UMDF

Quarterly publication connect Volume 19, Issue 3, Summer 2015

21st Century Cures Act Passes the House

t is now up to the United States Senate to the testing and approval of new treatments will vote on the 21st Century Cures Act. During be provided to the Food and Drug Administration the UMDF’s “Day on the Hill” in June, we (FDA). encouraged participants to ask their House and SenateI members to support the measure. Also Under the measure, clinical research trials, vital in known as H.R. 6, the bill passed the U.S. House on providing new medications and therapies, will be July 10, 2015, with bi-partisan support. expanded.

The 21st Century Cures Act was introduced in the The 21st Century Cures Act has received House because health care innovation is moving widespread praise from an array of doctors, very fast. From the mapping of the human genome researchers and experts in medical innovation. to personalized medicines linked to advances in molecular Dr. Francis Collins, Director of the National Institutes of Health, medicine, breakthroughs continue that are changing the way says he has “never seen a more exciting time” in transforming disease is treated, managed and cured. Those who proposed biomedical research. the legislation say federal drug and device approvals lag far behind the advances in medical science. That is why the Life sciences research drives resources and dollars into our legislation, led by House Energy and Commerce Committee hospitals and educational and scientific institutions, helping them Chairman, Fred Upton (R-MI-06), was introduced. prepare the next generation of scientists and doctors. The bill will help new scientists begin careers in research and apply their The 21st Century Cures Act helps to modernize the research skills to tackling disease. It enables scientists and caregivers to infrastructure and streamlines the bureaucracy between patients more effectively communicate, collaborate and share data on the and cures for conditions like mitochondrial disease. The diseases they study. National Institutes of Health (NIH), whose budget has been stagnant over the past few years, will see an increase of $10 The measure now rests within the U.S. Senate. If approved billion over the next five years. More resources to speed along there, it will be sent to the President for his signature. With generous support from From the Chairman Contents UMDF News - pages 5 - 7 UMDF Member Stories - pages 9 - 11 UMDF Education - pages 12 - 13 UMDF Symposium - page 14- 23 Adult Corner - page 25

UMDF Development - page 26 - 27 e are coming off another a clinical trial and one supports a UMDF Events - pages 8 - 30 very successful UMDF potential treatment. You can read WSymposium, and I am more about these projects in this UMDF Connect - page 31 always amazed by the number of newsletter, but we are very excited people who travel from near and far about the potential these research to attend. No matter how much projects could bring to patients and Board of trustees we know about mitochondrial families in the not so distant future. Patrick Kelley - Chairman disease, it is our job as patients and W. Dan Wright - Vice Chairman caregivers to continually expand As you read this, the calendar is John A. DiCecco - Treasurer/Secretary that knowledge. It should be rapidly approaching the month of Bruce H. Cohen, MD our personal mission to stay on September. It’s a busy month. Sumit Parikh, MD - SMAB Chair top of the latest information and Awareness week will begin on Brent Fields developments, because they seem September 20th. Awareness Week Hooper Hardison to be coming at a very rapid pace. I is sandwiched in between our 17 John Kieffer always come away from the UMDF Energy for Life Walkathons that Richard Leach Symposium energized after hearing will continue into November. I Sharon Shaw Reeder - Member Liaison the presentations and sessions that encourage you to do your part in Tyler Reimschisel, MD clearly point to the fact that we are raising awareness. Anything that moving forward toward potential helps us get the word out about Debra Schindler-Boultinghouse treatments and cures. If you were mitochondrial disease and its impact Charles A. Mohan, Jr. - Chair Emeritus able to be with us in Washington, is considered a success. Check out DC, in June, you no doubt heard the fall Energy for Life schedule at Scientific & Medical Advisory Board about the many clinical trials that are www.energyforlifewalk.org. Find Sumit Parikh, MD - Chair underway or about to start. These a walk near you and sign up a William Craigen, MD, PhD trials are critical to the affected team. Encourage family and friends Marni Falk, MD community, because they are paving to exercise their mitochondria by Amy Goldstein, MD the way towards better treatments participating in a walk. Andrea L. Gropman, MD, FAAP, FACMG and potential cures. Richard H. Haas, MB, BChir The path to a cure is made possible Marcia Haigis, PhD I am also delighted to report that through awareness and the power of Carla Koehler, PhD UMDF awarded nearly $500,000 the Energy for Life Walkathon! Dwight Koerbel, MD, PhD towards research. If successful, Mark Korson, MD two of these research projects could result in a faster diagnosis; Giovanni Manfredi, MD, PhD an additional two could result in Robert McFarland, MBBS, PhD potential therapies - one supports Patrick Kelley, UMDF Chairman Gerard Vockley, MD, PhD Kendall Wallace, PhD Richard Youle, PhD UMDF Connect | Summer 2015 3

advocacy

DAY ON THE HILL

ore than 230 UMDF to stimulate mitochondrial research; members and their families make the pre-clinical development Dino Scanio and his son, Giovanni, talk about how took part in the third “Day of therapeutics for the treatment of mitochondrial disease impacts their family with on the Hill” on June 18, mitochondrial diseases a focus area Rep. Gus Bilirakis of Florida. Dino’s son, Gianluca, 2015.M After being bussed to the Hill in for the Therapeutics for Rare and has mitochondrial disease. the morning, members fanned out across Neglected Diseases (TRND) program the United States Capitol for scheduled within the National Center for Advancing meetings with their Congressmen and two Translational Sciences (NCATS); work U.S. Senators. to develop novel, safe and effective nutritional interventions for mitochondrial UMDF Members were educated on the disease; and The Office of the Director issues that are affecting the mitochondrial should create a coordinator for disease community and were instructed mitochondrial research who is empowered to provide three requests of their House to hold the various institutes accountable Members and one for each U.S. Senator. for their commitment and progress.

Among the “asks” for Congress was Congress members were also asked a request for each Member to join the to support the 21st Century Cures Act, Congressional Mitochondrial Disease which does several things to help with the Caucus. Currently, 20 members of clinical trial process and the review and Congress are active on the caucus. approval of new drugs and biologicals. The goal for our “Day on the Hill” Micheal and Peggy Wichert of Husdon, Ohio, meet participants was to double the amount of For their meetings with U.S. Senators, with U.S. Senator Sherrod Brown. Congressmen sitting on the caucus and UMDF members asked each to sign participating in the numerous briefings onto a similar letter to Dr. Collins. That held each year to educate elected officials letter was written and signed by Senator about mitochondrial disease and its Barbara Boxer (D-CA). Numerous impact on individuals and families. Senators said they would review the letter and consider adding their name. UMDF members were also instructed to ask their Congressmen to sign onto If you were unable to participate in a letter, written by Rep. Jim McGovern Washington, DC, you can add your voice (D-MA-02) and Rep. Tim Murphy (R-PA- from home. UMDF invites you to visit the 18) to the NIH Director Francis Collins, UMDF Legisilative Initiatives page and Melissa Lane and her son, Parker, meet with MD, PhD. The letter to Dr. Collins asks the make appointments in your community Congressman Evan H. Jenkins of West Virginia. NIH to ensure that each of the relevant with your Congressman and U.S. NIH institutes are issuing mitochondrial- Senators. A complete outline of talking specific Requests for Applications and points, “asks”, and materials for your Program Announcements in an effort meeting can be viewed and downloaded to bolster inclusion of such research in at www.umdf.org/legislation. Our fourth “Day their various research portfolios; utilize on the Hill” will be held in Washington, DC, a portion of Common Fund resources in June 2017.

UMDF Connect | Summer 2015 5 Stealth BioTherapeutics is committed to the development of therapies for mitochondrial disease and proudly supports the advocacy efforts of the UMDF

To learn more about our work, please visit StealthBT.com or follow us on social media:

@StealthBT Stealth BioTherapeutics news

New Congressional Caucus New Therapeutic Approach Members Revealed uman Molecular Genetics recently published a study At the time the newsletter went to press, eight congressmen revealing a novel, promising therapeutic approach for joined the Congressional Mitochondrial Caucus as a direct result Hhuman mitochondrial disease based on the findings in of “Day on the Hill”. They are: human cells and animal models.

Rep. Hank Johnson (D-GA-04) The study is entitled “Inhibiting cytosolic translation and Rep. David P. Joyce (R-OH-16) autophagy improves health in mitochondrial disease” and Rep. Ryan Costello (R-PA-06) was conducted by researchers at The Children’s Hospital of Rep. Jared Polis (D-CO-02) Philadelphia and Perelman School of Medicine at University of Rep. Julia Brownley (D-CA-26) Pennsylvania. Rep. Mike Doyle (D-PA-14) Rep. Doug Collins (R-GA-09) “In this study, we investigated the effects of modulating not just Rep. Matt Salmon (R-AZ-05) signaling molecules, but two of the basic biological processes they regulate: protein translation and autophagy,” explained the We now have 27 House Members on the Caucus. Great work study’s senior author, Dr. Marni J. Falk, in a news release. “Both and please don’t forget to ask your Congressman to join! of these cellular activities are abnormal in mitochondrial disease, and we showed that using drugs that partially inhibit them offer novel treatment strategies.”

Dysfunction Linked to Aging? alk Institute Researchers in California have discovered an association between a longevity hormone, fat metabolism Stem Cell Therapy Sand mitochondrial disease in mice. Researchers analyzed new study recently published in the renowned journal, mouse models of mitochondrial disease and premature aging and Nature, revealed a breakthrough on combined stem cell discovered a hormone associated with longevity and the body’s Aand gene therapies for the treatment of mitochondrial response to starvation was very active even though the mice diseases. The study is entitled “Metabolic rescue in pluripotent showed signs of a fast aging process. cells from patients with mtDNA disease” and was led by researchers at Oregon Health & Science University. Scientists collected skin cells from patients with mitochondrial DNA mutations and, through a technique based on mitochondrial replacement via nuclear transfer (MRT), they were able to generate embryonic stem cells with healthy mitochondria. Mitochondrial Dysfunction and Colorectal Cancer Connection? he journal Diagnostic Pathology reports on a new potential biomarker. Kuwaiti researchers analyzed tumor samples Tfrom 30 people with colorectal cancer. In the study, researchers assessed the possible link between colorectal cancer and the mitochondrial A12308G alteration in tRNA Leu (CUN), as well as its utility as a disease biomarker. tRNA genes are crucial for the biological synthesis of new proteins. Mutations in mitochondrial tRNA genes have been considered a useful biomarker for different cancers, as defects in mitochondrial function have been suggested to have an impact on the development and progression of cancer.

UMDF Connect | Summer 2015 7 &

are proud to support UMDF in the ght against Mitochondrial Disease.

Visit www.epic4health.com for all your CoQ10 needs UMDF members Uplifting stories about our members

Calling All Artists!

MDF is looking for a design for our annual holiday card. We are looking for art that features a holiday Utheme,spreads mitochondrial disease awareness, and is created by patients or their family members.

How can you participate?

1. Create your artwork and take a picture of it. 2. Save your artwork in a JPEG format 3. Email your JPEG file to [email protected]

4. YOU MUST INCLUDE the name of the artist, age, city/

state and a contactwww.umdf.org phone number.

P: 888-317-UMDF P: 412.793-8077 F: 412. 793.6477 412. F: 412.793-8077 P: 888-317-UMDF P:

5.15239 SubmissionPA. Pittsburgh, 201 deadline isSuite - Road Friday,Saltsburg 8085 September 11, 2015, at

5:00 Foundation pm Eastern.Disease Mitochondrial United The

CONTACT PLEASE INFORMATION MORE FOR

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panel of judges will choose three pictures and post them on geted gene therapies. gene geted

Today, - tar for road the down and tool diagnostic a as used be will sequencing gene

the UMDF Facebook Page. dream. a just was sequencing gene 2003, In

2014 Holiday Card Artist Matt Calhoun

countries. different 16 Today, Today, 500 people attend represented by by represented attend people 500 In 2003, 124 people attended the UMDF symposium, with 3 people from other nations. nations. other from people 3 with symposium, UMDF the attended people 124 2003, In

The artwork with the most votes on Friday, September 25, 2015, been informed. been

Today, Today, 372 members of the House and Senate have have Senate and House the of members 372

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Holiday Card! ongoing. disease Today, Today, there are 305 clinical trials related to mitochondrial mitochondrial to related trials clinical 305 are there In 2003, there were three clinical trials related to mitochondrial disease. disease. mitochondrial to related trials clinical three were there 2003, In

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2013 Holiday CardDifference! of by RachelDecade a made Pipphas support Your 2008 Holiday Card by Kelsee Pollak In this season of Hope...

UMDF Connect | Summer 2015 9 Save the Date!

Mitochondrial Medicine 2016: Seattle

Scientific Program: June 15 - 18, 2016 Family Program: June 17 - 18, 2016

Doubletree by Hilton Seattle Airport 18740 International Boulevard Seattle, WA 98188

Scientific Course Chair: CME Chair: Russell Saneto, DO, PhD Bruce H. Cohen, MD Seattle Children’s Hospital / University of Washington Akron Children’s Hospital

activate

Walking to Raise Awareness

aren Loftus joined the Energy his annual golf outing, “The Greater Mito for Life Walkathon: Chicago in Open,” in honor of his daughter, Brianna, “In doing this challenge, it forces me to 2009. She was starting a lifelong who passed away from mitochondrial get up every day and get moving,” she journey to raise awareness disease. Karen was so inspired by their said. Kand advocate for not only herself, but story that she decided to join the UMDF’s all those affected by mitochondrial Activate your Mitochondria program and Karen’s favorite thing about the Activate disease. It wasn’t until 2010 that she turn her daily walks into something larger your Mitochondria program is that it would learn of her own diagnosis (her - she was going to hike the length of the gives those affected outside of an Energy mother, sister, niece and nephew also Appalachian Trail (2,180 miles)! for Life Walkathon city the ability to have mitochondrial disease). Since that participate and make a difference. time, she has participated in countless Soon Karen was plotting long distance events benefitting the UMDF, became walks and hikes, something she hadn’t “I use this as my rallying cry,” Loftus an ambassador and brought an Energy been able to do in a long time! She found cheers. for Life Walkathon to her hometown that plotting gorgeous walks helped to (Milwaukee/Southern Wisconsin). keep her inspired. Mentally, she said it For more information and to follow Karen’s was a huge relief to get her first walk out story, check out her Facebook page at “It is empowering to raise money for a of the way. That walk was 8 minutes long, https://www.facebook.com/ATMitoAwareness cure, and the EFL’s are a great way for our now she can do up to 20 miles in one day! community to come together and embrace Her favorite place to hike is Seven Bridges Join Karen by activating your each other. The support is great not only on Lake Michigan, it was her first elevation mitochondria! For more, visit for affected people but also for families challenge. “It is beautiful and as realistic www.umdf.org/activemito/at_mito_awareness and friends,” Loftus said. as we can get to the Appalachian Trail in Wisconsin.” During the past 13 months, Karen had Karen’s next challenge is to walk the been using Cam Walkers on her legs; and circumference of Lake Geneva, which she as soon as she was able to take them will attempt sometime this year. Although off, she decided she was going to start the physical activity is challenging, many walking. This past spring, Karen began days Loftus feels that walking has helped working with Dave Dobke in Wisconsin on to improve some of her mito symptoms.

UMDF Connect | Summer 2015 11 education

Planning for the Future

n last quarter’s issue, we introduced you to the importance of planning for your future by sharing information on wills and how to get started. We continue the “estate planning process” conversation this quarter by sharing some information from our partners at The Monteverde Group and Dayton & Kaikus, PC. “But I don’t haveI an estate!”, some folks may say – read on to learn more about what you can do now to protect what you do have in your “estate” regardless of size. - Beth Whitehouse

Estate Planning: An Introduction y definition, estate planning Over 18 Unmarried Couples is a process designed to help Since incapacity can strike anyone at You’ve committed to a life partner but you manage and preserve your anytime, all adults over 18 should consider aren’t legally married. For you, a will is assets while you are alive, and having: essential if you want your property to pass toB conserve and control their distribution to your partner at your death. Without a • A durable power of attorney: This after your death according to your goals document lets you name someone will, state law directs that only your closest and objectives. But what estate planning to manage your property for you in relatives will inherit your property, and means to you specifically depends on who case you become incapacitated and your partner may get nothing. If you share you are. Your age, health, wealth, lifestyle, cannot do so. certain property, such as a house or car, life stage, goals, and many other factors • An advanced medical directive: The you may consider owning the property as determine your particular estate planning three main types of advanced medical joint tenants with rights of survivorship. needs. For example, you may have a small directives are (1) a living will, (2) a That way, when one of you dies, the jointly estate and may be concerned only that durable power of attorney for health held property will pass to the surviving certain people receive particular things. care (also known as a health-care partner automatically. A simple will is probably all you’ll need. proxy), and (3) a Do Not Resuscitate Or, you may have a large estate, and order. Be aware that not all states Married Couples minimizing any potential estate tax impact allow each kind of medical directive, For many years, married couples had to is your foremost goal. Here, you’ll need to so make sure you execute one that do careful estate planning, such as the use more sophisticated techniques in your will be effective for you. creation of a credit shelter trust, in order estate plan, such as a trust. to take advantage of their combined Young and Single federal estate tax exclusions. A new law To help you understand what estate If you’re young and single, you may not passed in 2010 allows the executor of a planning means to you, the following need much estate planning. But if you deceased spouse’s estate to transfer any sections address some estate planning have some material possessions, you unused estate tax exclusion amount to the needs that are common among some should at least write a will. If you don’t, surviving spouse without such planning. very broad groups of individuals. Think of the wealth you leave behind if you die will This provision is effective for estates of these suggestions as simply a point in the likely go to your parents, and that might decedents dying after December 31, 2010. right direction, and then seek professional not be what you would want. A will lets advice to implement the right plan for you. you leave your possessions to anyone You may be inclined to rely on these you choose (e.g., your significant other, portability rules for estate tax avoidance, siblings, other relatives, or favorite charity). using outright bequests to your spouse instead of traditional trust planning. However, portability should not be relied upon solely for utilization of the first to

12 UMDF Connect | Summer 2015 education

die’s estate tax exemption, and a credit die simultaneously. If you fail to name a retirement years. Consider saving some shelter trust created at the first spouse’s guardian in your will, a court may appoint of your accumulated wealth using other death may still be advantageous for someone you might not have chosen. retirement and deferred vehicles, such as several reasons: Furthermore, without a will, some states an individual retirement account (IRA). • Portability may be lost if the surviving dictate that at your death some of your spouse remarries and is later property goes to your children and not Wealthy and worried widowed again. to your spouse. If minor children inherit Depending on the size of your estate, you • The trust can protect any appreciation directly, the surviving parent will need may need to be concerned about estate of assets from estate tax at the court permission to manage the money for taxes. second spouse’s death them. For 2015, $5,430,000 is effectively • The trust can provide protection of You may also want to consult an exempt from the federal gift and estate assets from the reach of the surviving attorney about establishing a trust to tax. Estates over that amount may be spouse’s creditors manage your children’s assets in the event subject to the tax at a top rate of 40 • Portability does not apply to the that both you and your spouse die at the percent. generation-skipping transfer (GST) same time. Similarly, there is another tax, tax, so the trust may be needed to You may also need life insurance. called the generation-skipping transfer fully leverage the GST exemptions of Your surviving spouse may not be able (GST) tax, that is imposed on transfers both spouses to support the family on his or her own of wealth made to grandchildren (and and may need to replace your earnings to lower generations). For 2015, the GST tax Married couples where one spouse is maintain the family. exemption is also $5,430,000, and the top not a U.S. citizen have special planning tax rate is 40 percent. concerns. The marital deduction is not Comfortable and looking Whether your estate will be subject allowed if the recipient spouse is a non- forward to retirement to state death taxes depends on the size citizen spouse (but a $147,000 annual If you’re in your 30s, you’re probably of your estate and the tax laws in effect in exclusion, for 2015, is allowed). If certain feeling comfortable. You’ve accumulated the state in which you are domiciled. requirements are met, however, a transfer some wealth and you’re thinking about to a qualified domestic trust (QDOT) will retirement. Here’s where estate planning Elderly or ill qualify for the marital deduction. overlaps with retirement planning. It’s just If you’re elderly or ill, you’ll want to write a as important to plan to care for yourself will or update your existing one, consider Married with children during your retirement as it is to plan to a revocable living trust, and make sure If you’re married and have children, provide for your beneficiaries after your you have a durable power of attorney and you and your spouse should each have death. You should keep in mind that even a health-care directive. Talk with your your own will. For you, wills are vital though Social Security may be around family about your wishes, and make sure because you can name a guardian for when you retire, those benefits alone they have copies of your important papers your minor children in case both of you may not provide enough income for your or know where to locate them.

UMDF Connect | Summer 2015 13 symposium

Dr. Doug Wallace Presented with UMDF Vanguard Award

he UMDF Vanguard Award is awarded to a veteran More than 35 years ago, Dr. Wallace and his colleagues mitochondrial disease clinician or researcher who founded the field of human mitochondrial genetics. One of his has demonstrated exceptional work in advancing the contributions has been to use mtDNA variation to reconstruct the mitochondrial medicine field. The recipient of this award origin and ancient migrations of women. These studies revealed hasT been at the forefront of medical and scientific contributions that humans arose in Africa approximately 200,000 years ago, in the fields of mitochondrial medicine and research for many that women left Africa about 65,000 years ago to colonize Eurasia, years. This person has demonstrated a lifetime commitment of and from Siberia, they crossed the Bering land bridge to populate progress towards a cure through research and medical treatment the Americas. Studies on the paternally-inherited Y chromosome and has diligently served the UMDF in a board or SMAB capacity. showed that men went along too. This person has also been involved with UMDF patient and educational programs and has provided inspiration to others in an A longtime supporter of UMDF and its patients and families, Dr. effort to bring new scientific and medical experts into the fields of Wallace is a passionate supporter of UMDF efforts in advocacy mitochondrial medicine and research. and a former member of the Scientific and Medical Advisory Board. Dr. Wallace is also a member of the National Academy of The 2015 Vanguard Award was presented to Douglas C. Wallace, Sciences and the 2012 winner of the prestigious Gruber Prize in PhD. Dr. Wallace is Director at the Center for Mitochondrial Genetics. and Epigenomic Medicine (CMEM) at Children’s Hospital in Philadelphia. He is also a professor in the Department of Pathology & Laboratory Medicine at CHOP.

14 UMDF Connect | Summer 2015 xxxxxx

Symposium Recap

by Phil Yeske, PhD, UMDF Science & Alliance Officer

he arrival of over 500 Institutes of Health, and longtime innovator researchers, clinicians and family in human genomics research. Dr. Green members in June of this year at spoke to a quarter century of progress Mitochondrial Medicine 2015 in in not only mapping the human genome Herndon,T VA, heralded the 17th annual but also the challenges in translating symposium sponsored by UMDF. As the deluge of genomic information into usual, there were scientific and family- actionable therapeutic opportunities. The oriented tracks and, as is customary for healthcare system of the United States when the symposium is located nearby to is converting into a “learning system,” Washington, DC, there was also a strong which is opening the door to an era of advocacy component via Day on the Hill, precision medicine. Precision medicine as along with NIH-sponsored activities. The it relates to mitochondrial disease was the scientific registrants represented a truly topic of Dr. Falk’s follow-up presentation international composition, with several in which she emphasized the challenge participants traveling from as far away as of diagnosis with a patient community Eastern and Southeast Asia. that can present anywhere from 7 to 35 symptoms to varying degrees. Access This year’s scientific program was to tools that tie together genomic and co-chaired by Drs. Marni Falk of the phenotypic (symptomatic) information will Children’s Hospital of Philadelphia and be the key to harnessing the power of “big Danuta Krotoski of the National Institutes data,” and the Mitochondrial Sequencing of Health. The first three days focused on Data Resource Tool, MSeqDR, under the multitude of roles that mitochondria development through funding by UMDF play within cells, while day four focused and NIH, will serve as a single, powerful on the role of genetic counseling in database for pooling such information mitochondrial disease and therapeutic for use by clinicians and researchers development efforts. Following are active in mitochondrial disease research. highlights from the various platforms. Co-developer of MSeqDR, Dr. Xiaowu Gai of Harvard Medical School, provided Harnessing the Power of BIG DATA to further details to the conference Understand Small Organelles attendees about how the feature-laden “Big data” is a hot topic on many scientific database serves as a one stop shop fronts these days as an exponential for variant mapping, annotation, exome increase in computing power delivers data analysis and disease discovery more and more information to researchers tools. With better understanding of the for analysis. The keynote presentation in genes underlying mitochondrial disease this platform was delivered by Dr. Eric comes the opportunity for therapeutic Green, Associate Director of the National development. Dr. Massimo Zeviani of

UMDF Connect | Summer 2015 15 symposium

now accepts as fact that mitochondrial dysfunction is a contributing factor in a multitude of degenerative diseases. The session was wrapped up by this year’s UMDF Vanguard Award winner for lifetime commitment and achievement within mitochondrial disease research or medicine- Dr. Doug Wallace of University of Pennsylvania. Dr. Wallace provided a wide-ranging overview on the relationship of bioenergetics and disease, and how the single gene-single disease model has in the MRC Mitochondrial Biology Unit and the potential of addressing difficult to large part been found to be the exception University of Cambridge, described the treat myriad neurologic symptoms often and not the rule. development of new in vitro models of observed in mitochondrial disease. A mitochondrial energy creation (OXPHOS) variety of disease models have already Mitochondria-Induced Mayhem: and how they have been exploited to been successfully utilized to demonstrate The Role of Other Organelles in implement novel therapeutic strategies this concept, including a POLG1 rat Mitochondrial Disease based on gene and cell replacement, or as well as MELAS and LHON patient The Friday morning session focused on pharmacological control of mitochondrial fibroblasts. A McMaster University co- the complex interactions between the biogenesis (creation of new mitochondria). worker of Dr. Tarnopolsky, Dr. Adeel mitochondria and other organelles in the Dr. Vamsi Mootha closed out the session Safdar, provided additional exosome cell. Dr. Wiep Scheper of the University with a summary of how database-driven therapy data showing a 4-fold increase of Amsterdam opened the session with a genomics, next generation sequencing in mitochondrial biogenesis, bringing discussion of his lab’s work on metabolic and metabolic profiling are combined us a step closer to safe and promising stress and protein homeostasis. They in his lab to improve the diagnosis and “exercise pills.” Dr. Tarnopolsky founded proposed a model where increased management of mitochondrial disease. EXERKINE Corporation to explore the metabolic stress leads to upregulation commercialization of these interesting new of the unfolded protein response and Mitochondrial Disease Mechanisms: agents. phosphorylation of the tau protein. If left Dissecting the Cellular Response to unchecked, this response can become Mitochondrial Disease Mitochondrial Connections to Cellular Life pathogenic, such as in Alzheimer disease Although a number of interesting talks Cardiolipin is the major phospholipid patients. Dr. Scheper’s talk was followed were presented in this session on building block in the mitochondrial inner by Dr. Michael Glickman of the Technion- important aspects of cellular response membrane, where it increases substrate Israel Institute of Technology and his work to mitochondrial disease, two talks that channeling, promotes respiratory on the relationship between proteasome focused on mimicking the benefits of supercomplex assembly, and facilitates systems (the garbage disposal systems of exercise to restore mitochondrial function the potential gradient. Genetic defects the cell) and the mitochondria. His lab has stole the show. Cutting edge work in in TAZ, the protein responsible for detected the first evidence of proteasomic this area has been conducted for years cardiolipin remodeling, result in Barth activity in mitochondria, and he showed at McMasters University under the syndrome. Dr. Steven Claypool of Johns that blocking of certain pathways leads to leadership of Dr. Mark Tarnopolsky. The Hopkins University described how he detrimental mitochondrial fragmentation Tarnopolsky lab has identified a series of and his colleagues established a model and increased oxidative species, exerkines- beneficial factors to cellular yeast system for studying these defects, potentially leading to neurodegenerative health that are released upon exercise. proving that although they remodel disorders. Dr. Keshav Singh of the Because many mitochondrial disease cardiolipin on different sides of the inner University of Alabama examined the effect patients are intolerant to exercise, the mitochondrial membrane, the loss of of decreased mitochondrial DNA in tumor ability to develop a so-called “exercise in function mechanism is the same in yeast cells. His lab found a number of defects a bottle” pill would represent a potentially as seen in patients. Turning to the outer present in both healthy and tumor cells transformative therapy. With over 25 mitochondrial membrane and its important lacking mitochondria. These studies help exerkines now identified, a next major role in importation, Dr. Carla Koehler of to explain the vast array of symptoms challenge is how to deliver these agents University of California Los Angeles (and seen with mitochondrial disorders. within the body, and significant progress UMDF Scientific and Medical Advisory has been made in the Tarnopolsky lab Board member) described her interesting Cellular Nutrition and Mitochondrial utilizing exosomes- tiny cellular vesicles work in developing modulators of protein Function used to transport various biomolecules import. When importation is compromised The Friday afternoon session began throughout the body, including across in some way mitochondrial dysfunction with Kathryn Camp of the NIH’s Office the blood-brain barrier, thus opening up results, and the scientific community 16 UMDF Connect | Summer 2015 symposium

of Dietary Supplements discussing what they are signing and receiving. the outcomes of the 2014 NIH-hosted To Market, To Market: How to Prioritize Workshop “Nutritional Interventions in Drugs for Clinical Trials and Most Primary Mitochondrial Disorders.” The Effectively Achieve FDA Approval primary purpose of the workshop was to The final session of the scientific promote a research agenda with a priority program at Mitochondrial Medicine 2015 on primary mitochondrial disorders (PMD). focused on therapies in development for Defining PMD and identifying biomarkers, mitochondrial disease and the clinical outcome measures, and endpoints for trials required for drug approval. The monitoring disease were key topics of patient perspective was presented by the workshop. The UMDF is working Dr. Zarazuela Zolkilpi Cunningham, from closely with the NIH to coordinate a wide Children’s Hospital of Philadelphia, who range of follow-up activities resulting from spoke to the barriers and motivations this workshop. Dr. Patricia Berninsone of patient involvement in clinical trials. of the University of Nevada examined Designing said clinical trials for a highly the impact of sugar-modified proteins heterogeneous disease population such on mitochondrial function. Her work as mitochondrial disease is a major suggests that such modifications impact challenge, reported Dr. Jeffrey Krischer of a wide variety of important mitochondrial University of South Florida. With limited mechanisms and are more prevalent than numbers of patients available, it is critical previously thought. Dr. Scott Bultman of to develop enhanced trial designs that the University of North Carolina discussed can still deliver the power necessary to the impact of epigenetics (modified gain FDA approval. Precision medicine genes) on cellular nutrition, emphasizing based on N=1 (“N of 1”) trials are the the importance of a two-way flow of ultimate in personalized design, but also information between mitochondria and the the most challenging to develop. Building nucleus. the case for FDA approval was the topic of Dr. Peter Stacpoole of University of Genetic Counseling in the Mitochondrial Florida’s presentation. Drawing upon years Community of personal experience, Dr. Stacpoole The Saturday morning session focused spoke to the need for disease background on mitochondrial clinical care in general information, natural history and a well- and the role of genetic counseling in chosen primary outcome measure as particular. Drs. Mary Kay Koenig of key elements of a therapeutic regulatory University of Texas and Patrick Chinnery strategy. Dr. Greg Enns of Stanford of Newcastle University began the session University closed the conference with an with a comparison of the clinical care overview of the drugs ready (or nearly models in the United States and the UK. ready) for mitochondrial disease-focused Both increasingly rely on genetic testing, clinical trials. Based on data available on and genetic counselors are often the www.clinicaltrials.gov, there are currently first line of communication for patients 17 trials either active or recruiting for and families. Elizabeth McCormick, a mitochondrial disease patients. Other genetic counselor at Children’s Hospital potential therapeutics are in pre-clinical of Philadelphia described best practices planning, and still others remain in early that her institution utilizes for conveying research- emphasizing the need for all the complex information, realizing that stakeholders in the mitochondrial disease children, adolescents and adults all community to work together at this process such information in different important time. manners. Dr. Richard Boles of Courtagen Life Sciences reinforced the importance of Mitochondrial Medicine 2015 was a communication, especially in identifying an whirlwind of scientific sharing and appropriate level of information to disclose discussion over four days. Next year the Dr. Yeske would like to thank Drs. so as not to create unnecessary anxiety. venue will shift to the Pacific Northwest in Karen DeBalsi, Megan McManus, It is an individualized process, unique to Seattle, Washington. As always, UMDF will Rachel Krasich and James Byrnes for each case, and Dr. Boles encouraged work closely with the scientific program their contributions to this article. patients to ask as many questions as chair to design a relevant, high impact necessary to ensure an understanding of agenda.

UMDF Connect | Summer 2015 17 Symposium Awards t its annual symposium, Mitochondrial Medicine 2015: Washington DC, the United Mitochondrial Disease Foundation honored several volunteers for their efforts and dedication in supporting the organization and the patients and A families it represents. he Energy Award recognizes an individual who Tembodies the spirit of the UMDF and its mission: Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and providing support to those affected. The 2015 Energy Award Recipient is Sherri Schultz of Buffalo, New York.

A tireless and atie Parsons of Marietta, Georgia, is the recipient of this selfless advocate for year’s Heartstrings Award. Katie was diagnosed with mitochondrial disease, mitochondrial disease when she was 3 years old, after Sherri is a main driving numerous illnesses and hospitalizations that began in force for mitochondrial disease awareness and action in Kinfancy. Now 13 years old, Katie is a caring, spunky young lady Buffalo. Sherri became involved with the UMDF after her who enjoys percussion, dance, and making things out of duct diagnosis in 2007. She has volunteered and participated in the tape. Katie turned her love of duct tape crafts into Katie’s Duck Energy for Life Walkathon in Western New York since 2009. Tape Kreations by making wallets, bookmarks, jewelry…and even an entire dress!...all out of duct tape. She has donated proceeds to After a lifelong struggle to find answers, Sherri realized how the UMDF and other mito-related causes. little awareness there was for mitochondrial disease. Since then, she started an online group support group, Mito Café, The Heartstrings award is presented to an individual under the and in 2014 became a Support Leader for UMDF. Through her age of 18 who has invested their time, demonstrated their talents, work with UMDF, she leads meetings, brings speakers to local effectiveness and generosity in raising money or donations to UMDF members, participates in community awareness events, enable the UMDF to continue its mission. networks and promotes other regional UMDF events and co- chaired the 2014 Energy for Life Walkathon in Western New Katie participates every year in the Energy for Life Walk in Atlanta York. and proudly served as a Junior Ambassador at age 7, when she gave her first speech at a UMDF walk. Katie is determined to Sherri also advocates for the UMDF with Day on the Hill educate others about mitochondrial disease by talking about the and all advocacy asks, as well as referring others to do the condition in her school, community, social media and the news. same. Sherri is also the UMDF representative on a legislative “Who knows,” she says, “maybe one of them will want to become committee working to pass legislation which will require a mito doctor!?” She wants to make a difference for not only insurance companies to cover the ‘mito cocktail’ and has been herself but for others with mitochondrial disease, such as her mom meeting New York State Senators and assembly members and friends she has made through the years. to gain their support and educate them about mitochondrial diseases and the UMDF Mission. It takes a village to raise a child, and the support and encouragement Katie has received, from all of you, has helped in Sherri has a 15 year old son, Ryan, who is clinically suspected her resolve to make a difference and find her cure. of having a mitochondrial disease and she is a lifetime partner of Richard Schultz. symposium

he LEAP Award recognizes an individual living positively with mitochondrial disease, highlighting the person’s accomplishments and volunteer service.

TChelsea Loyd is 20 years old and just completed her freshman heryl Porter, who lives in Flowery Branch, Georgia with year of college at Columbus State University. In 2012, she was her husband David, Sr. and her son David, Jr., is the diagnosed with mitochondrial disease, which finally provided an 2015 winner of the Stanley Davis Leadership Award. answer for all of the health issues she has suffered from birth. The award is the UMDF’s most prestigious national When she graduated from high school, she could not start college Caward honoring a UMDF Leader that best represents the selfless right away because she was facing two major knee surgeries. dedication and commitment to the UMDF Mission as that of its Many people would have opted not to go after missing a full namesake. year, but Chelsea couldn’t wait to get started. Chelsea was a cheerleader in middle school and high school; however, by her In 2009, Cheryl Porter just sent the last of her five children off to junior and senior years, she could not cheer through a complete college and thought that life was going to slow down. In March, football game due to the mito. Her goal was to become a college David began to experience dizziness and blurred vision. In May, cheerleader and, in spite of having mitochondrial disease and she heard the words “mitochondrial disease” for the first time as three major knee surgeries, she is actively pursuing this dream. he was diagnosed with Leigh’s Disease. Once David became more stable, Cheryl and David traveled to the UMDF to meet everyone Chelsea has been the co-chair for the Energy for Life Walk in and learn as much as possible about mitochondrial disease. It was Columbus, Georgia, since it began in 2013. She embraces the in the conference room at the UMDF that she uttered the fateful opportunity to bring awareness to the community about mito. words, “I’ll do anything that I can do to help!” She has done newspaper and radio interviews, presented at

The Optimist Club civic club and spoke to the Columbus City Since that time, she has helped with numerous fundraisers in the Council about mitochondrial disease and the EFL Walk - just to Atlanta area for the UMDF. She has been the Co-chair for the name a few of her opportunities. This year, she is helping with Atlanta Energy for Life walk for four years, raising over $200,000. the inaugural “Go Pro for Mito” golf tournament, another event Cheryl helped institute the successful Symposium Synopsis event designed to help raise awareness about mitochondrial disease in Atlanta which is now entering its 4th year. and raise funds for a cure/treatment.

“Hearing the words ‘“mitochondrial disease” in 2009 totally Chelsea learned about a fundraiser at the EFL training and has changed my life, but we are grateful every day for the support and adopted the “Flamingo Fundraiser” as her way of personally encouragement of the friends that we have made along the way raising money for her EFL team. By placing the flamingos and and for the UMDF,” said Cheryl. information signs in yards in our community, she is raising awareness and “earning” money for her team. UMDF Connect | Summer 2015 19 UMDF education Bringing the experts to your community

Research Grant Awards

he United Mitochondrial Disease Foundation, through your generous donations, Family Research Funds and Energy for Life Walkathons, is able to support nearly $500,000 in direct grants in 2015 to the following scientists. In addition to these grant awards, UMDF Supports the North American Mitochondrial Disease Consortium (NAMDC), MSeqDr, and the Mitochondrial Disease Community Patient Registry, bringing our direct support towards treatments, therapies, and potential cures to more T than $750,000 in 2015.

Dr. Lisa Riley and Patrick Kelley Patrick Kelley, Carrie Mullin, Dr. Daniel Bogenhagen and Laurel Smith

ohn Christodoulou, PhD, of Children’s aniel F. Bogenhagen, MD, Department of Hospital at Westmead in New South Pharmacological Sciences at Stony Brook Universitywas JWales, Australia was awarded Dthe recipient of an $100,000 UMDF Research Grant. Dr. $100,000 for his project, “Utility of FGF21 Diaz’s project is entitled “Kinetics of Mitochondrial Complex and GDF15 as Diagnostic and Prognostic Assembly.” Dr. Bogenhagen is utilizing mass spectrometry Biomarkers of Mitochondrial Respiratory techniques to study the assembly map of the mitoribosome as Chain Disorders.” Dr. Christodoulou will well as the mitochondrial respiratory complexes. The improved validate optimal methodology in a clinical understanding of both of these mitochondrial construction diagnostic laboratory setting to determine projects will enhance the diagnosis and future therapy of the utility of measuring FGF-21 and GDF- John Christodoulou, mitochondrial disorders. 15 as biomarkers of pediatric mitochondrial PhD disease. This has become a major question This grant is funded in part by the Corynna Strawser Family in the field, as to how potentially useful in terms of sensitivity and Research Fund & the fundraising efforts of our UMDF families specificity these biomarkers are for mitochondrial disease. participating in Energy for Life Walkathons. Carrie Mullin and Laurel Smith, Co-Chairs of the Delaware Valley Energy for Life This grant is funded in part by the UMDF Olivia Paige Goldberg Walk, presented the award. This walkathon has raised over Family Research Fund and the Australian Mitochondrial Disease $250,000 since 2010. Carrie and Laurel have walk teams in honor Foundation under the leadership of CEO Sean Murray. of their sons, “Patrick’s Parade” and “Jamie’s Dirt Dogs.”

20 UMDF Connect | Summer 2015 education

Patrick Kelley, Dr. Joni Nikkanen and Brent Fields Patrick Kelley, Dr. Atif Towheer and Kate Crawford

tif Towheer, PhD, Department of Pathology and nu Suomalainen Wartiovaara, MD, Laboratory Medicine, Children’s Hospital of Philadelphia, PhD, University of Helsinki, Finland received a $70,000 UMDF Research Grant. Dr. Towheed’s was the recipient of a $100,000 A A project is entitled “Allotopic RNA Rescue of LHON Mouse grant for the project “Vitamins B as Therapy Model.” The goal of Dr. Towheed’s work is to develop a novel for Disorders with mtDNA Instability.” Dr. gene therapy strategy for the treatment of Lebers hereditary optic Suomalainen Wartiovaara will utilize a mouse neuropathy (LHON) utilizing a mouse model developed in the model to build upon preliminary results labs of Dr. Douglas C. Wallace. If this therapeutic approach is indicating that vitamins B, especially B3 successful it could inhibit the onset of the optic nerve pathology. (Niacin) play key metabolism regulatory roles in patients with mitochondrial myopathies. Dr. Suomalainen This grant is funded in part by the UMDF John Geraci Family Pre-clinical data generated in mice will inform Wartiovaara Research Fund and the LHON Project Fund at UMDF, including the creation of a follow-up human clinical trial the Poincenot family’s “C.U.R.E. Ride”; the Loomer family’s on the impact of Niacin supplementation for “Dinner in the Dark” ; Shane Stewart & family’s “Birdie’s for the the alleviation of symptoms due to mitochondrial disease. Blind”; Lee Lyons’ “Stride for Sage”; and Chaz Davis & family’s

“20/20 fundraiser”. These families raised over $75,000. This grant is funded in part by the UMDF Brandon Leach Family Research Fund and the UMDF Chloe Fields Family Research The grant was presented by Kate Crawford for the John Geraci Fund. Brent Fields, Secretary on the UMDF Board of Trustees, Research Fund. John and Kate established the John Geraci presented the research grant In the short time the research fund Research Fund in 2013 after John was finally diagnosed the has been established, the Fields have raised over $15,000. previous year.

ara M. Nowinski, PhD, Department of Biochemistry University of Utah, was the recipient of a $70,000 grant Saward. Dr. Nowinski’s project is entitled “Characterizing the Function of the Atypical Mitochondrial Kinase ADCK3.” The studies in Dr. Nowinski’s grant will improve the understanding of ADCK3 function in the synthesis of coenzyme Q and cerebellar ataxia. Additionally, better treatment strategies for mitochondrial disease could be developed in the future if new roles for ADCK3 are identified.

This grant is funded in part by the UMDF Olivia Paige Goldberg Family Research Fund and the fundraising efforts of many UMDF families participating in our Energy for Life Walkathons, Patrick Kelley, Dr. Sara Nowinski and Tom and Elizabth Hefferon including our presenters Garret & Lindsey Flynt, parents of Jaxson. New to the UMDF Family, their family organized the ‘Fight for a Cure’ Golf Tournament. Combined, they have raised nearly $35,000.

UMDF Connect | Summer 2015 21 education

eter Stacpoole,MD, PhD, Department of Medicine, University of Florida, received a grant award of $24,898. PDr. Stacpoole’s project is entitled “Validation of an Observer Reported Outcome (ObsRO) Measure of Home Functionality in Children with Pyruvate Dehydrogenase Complex Deficiency (PDCD).” Dr. Stacpoole, in response to a specific request from the FDA for information from the patient or patient family to aid in regulatory decisions, has developed an innovative computer tool to track home functionality of pediatric PDCD patients. The pilot study in 10 PDCD families will test the feasibility of the survey instrument and refine it as needed for its eventual use in a planned Phase III trial of dichloroacetate (DCA). If the trial shows DCA is found safe and effective, it could lead to this drug being designated as the first FDA-approved therapy for PDCD. Patrick Kelley, Dr. Peter Stacpoole and Anne Tuccillo Anne Tuccillo and her co-chair, Sharon Goldin have organized the Fall into a Cure event since 2009. Over the last six years, the event has raised nearly $225,000. Anne and Sharon plan this event in honor of their sons, Bryan Tuccillo and Jake, Cole & he UMDF Research Grants are funded through the work Clayton Didinsky. and dedication of UMDF volunteers and donors who Tsupport Energy for Life Walkathons and other special events, Holiday Appeals, UMDF’s Path to A Cure, and UMDF Family Research Funds. If you would like to learn more about helping to further our research with a gift, please contact the UMDF Development Department at 888.317.UMDF (8633).

22 UMDF Connect | Summer 2015 Visit us at www.solacenutrition.com education

Ask the Mito DocSM

iving with mitochondrial disease presents many twists and turns, and a maze of questions. UMDF is pleased to offer answers to some Lof those questions as taken from Ask the Mito DocSM at www.umdf.org. Please note that information contained in Ask the Mito DocSM is for informational and educational purposes only. Such information is not intended to replace and should not be interpreted or relied upon as professional advice, whether medical or otherwise.

I have KSS. I am 54 years old and was correctly I want to know if you have heard of or know of the use of Q:diagnosed (muscle biopsy) in 1987. In regards to dental Q:low level light therapy in the treatment of mitochondrial work, is it okay for me to have a local anesthetic agent containing disease? Lidocaine Hydrochloride? Low level laser therapy is A:an interesting phenomenon It is not really a question for that in theory could have an effect A:a non-treating physician as it on mitochondria, but I have not is very specific to care and should be heard of its use in the treatment of addressed by your treating physicians primary mitochondrial disease. There who know all of your issues and have been some interesting reports other medications, many of which of its use in Parkinson’s disease, may impact your response to this Alzheimer’s disease and amyotropic medication and the procedure. Having lateral sclerosis. - Greg Enns, MD said that, the best I can answer is Greg Enns, MD, ChB as follows: Lidocaine can be mito toxic and its neurotoxicity is linked to Fran D. Kendall, MD mitochondrial apoptosis (destruction and subsequently cell destruction). Having said that, the dose typically used for a minor procedure is small and applied locally and more than likely won’t cause problems. However, your dentist needs to be aware that you are at greater risk than the average person so that he/she can either use the smallest dose possible or elect to utilize another anesthetic agent. - Fran D. Kendall, MD

You can quickly and easily find “Ask the Mito Doc” Q/As on topics of your choice by going to the UMDF home page at www.umdf.org. Go to “Find Support” and click on “Ask the Mito Doc.” Click on the search “Ask the Mito Doc” link; this will pull up a search box. Type in a keyword or phrase you are interested in and click “Go.” The search engine will pull up every Q/A that mentions your word or phrase. If you are not satisfied with the results, try variations or synonyms of your word/phrase.

Visit us at www.solacenutrition.com UMDF Connect | Summer 2015 23 adult corner

AACT News SYMPOSIUM EVENTS

he AACT was proud to host the ver two dozen EFL Walkathons 9th Annual Adult Gathering at take place across the country the 2015 UMDF Symposium to help fund vital research in Washington DC, as well as grants to find treatments and WEBINAR participateT in the Day on the Hill. Thanks curesO for mitochondrial diseases and to everyone who attended the Symposium disorders. If you cannot walk a good and the Gathering! It was great to distance, don’t let this discourage you Stay tuned for our upcoming hosted see everyone, learn the latest about from forming a team, joining a team, webinar with updates on research and mitochondiral disease in the sessions, and attending or forming a virtual team. The current clinical trials, followed by a have many exciting discussions. venues are fantastic, and it’s a great day question and answer session. to join together with energy, resilience, If you were not able to attend the and hope. www.energyforlifewalk.org Visit www.umdf.org for more information on Symposium, you still have the opportunity upcoming date and time! to watch presentations via the UMDF To find and view listings of other website! Visit www.umdf.org/symposium to upcoming events and meetings in your access the Presentation archives, and area, visit www.umdf.org and click on Find watch much of the 2015 Symposium Support - lots happening! Family Program right on your computer screen! AACT is honored and proud to represent, serve, and support you.

Adult Advisory Council Team (AACT) Purpose of AACT Jennifer Schwartzott, AACT Chair, New York Christy Koury, North Carolina To represent and serve the unique needs of the Gail Wehling, AACT Co-chair, Illinois Joy Krumdiack, Washington affected adult community and to ensure that those Devin Shuman, YA Coordinator, Washington Terry Livingston, Florida needs are adequately represented to UMDF resulting Kailey Danks, Canada Deb Makowski, Arizona in enhanced services to the affected adult population. Whit Davis, Pennsylvania David McNees, Ohio Rev. David Hamm, Maryland Sharon Shaw Reeder, California AACT is a liaison to the UMDF Board of Trustees Pam Johnson, MD, Missouri/Kansas Gregory Yellen, Maryland and will assess and evaluate, provide advice and Medical Advisors: guidance, and make recommendations to UMDF on Bruce H. Cohen, MD Amy Goldstein, MD adult-related issues.

24 UMDF Connect | Summer 2015 development

Companies Match Your Efforts

our support enables us to fund our critical mission; but did you know that many companies match cash donations and volunteer hours? Last year, these companies and foundations generously supported employee giving AACT News campaigns benefiting UMDF. Thank you to the employees who gave Ydonations and volunteered their time! Aetna Foundation Dominion Foundation Meredith Village Savings Bank Allstate Ericsson Microsoft American Water Charitable Fdn Fluor Foundation Monsanto Amica Companies General Mills Northwestern Mutual Fdn AOL/Time Warner GlaxoSmithKline Foundation Pepsico Foundation Applied Materials Goldman, Sachs & Co. PG & E Corporation Autozone Google Pitney Bowes Foundation Axa Foundation Grantham, Mayo, Van Otterloo Prudential Foundation BAE Systems Halliburton Ensign-Bickford Foundation Ball Corporation HCA Foundation Trans Union, Llc Baxter International IBM U.S. Bancorp Foundation BlueCross BlueShield of NC Kohl’s Union Bank Bobby Rahal Automotive Group Liberty Mutual Group Union Bank of California Canadian Pacific Macy’s United Healthcare Services Colgate Mastercard Veeva Systems Constellation Energy McKinsey & Company Volkswagen Group of America Costco Wholesale Medtronic VOYA Crail-Johnson Foundation McDonald’s Corporation

Over 19,000 U.S. companies offer matching gift programs and make charitable giving a priority! Please inquire at your work place today, or visit https://doublethedonation.com/umdf

Questions? We’re happy to help.

Leslie Heilman Barbara Cullaj [email protected] [email protected] 412-793-8077 ext 122 412-793-8077 ext 100

UMDF Connect | Summer 2015 25 development

Donor Spotlight April 1, 2015 - June 30, 2015

$50,000+ Capps Charitable Fund Mr. and Mrs. Michael Morell The J. Willard & Alice S. Marriott Mr. Jeff Carter New Albany Plain Local Schools Foundation Center For Pediatric Therapy Mr. Joe Orr Reata Pharmaceuticals Dr. and Mrs. Bruce Cohen Palm Valley Lutheran Church William Wright Family Foundation Mrs. Clarey Collins Dr. Michelle Snyderman Platt Dr. and Mrs. John Curran Prem Corp $10,000-$49,999 Mr. Brian Dannemann Puget Sound Kidney Centers Astellas Pharma US Mr. and Mrs. John DiCecco Drs. Lon and Rebecca Raby FedEx Domtar Paper Company Ms. Sheila Rinaberger Sage Foundation Dorman High School Roberts-Winegardner Funeral Home The Spartanburg County Foundation Ms. Kara Eichelkraut Saal Family Fund Stealth BioTherapeutics Extended Ag Services Inc. Scharff Charitable Foundation Mr. Mike Felts Ms. Catherine Sims $5,000-$9,999 Fidelity Charitable Gift Fund Mr. Robert Snell Akron Children’s Hospital Mr. and Mrs. Garret Flynt Sports & Exhibition Authority Aytu BioScience Fraternal Order of Eagles St. Nicholas Philoptochos Society Baylor Miraca Genetics Laboratories GeneDx Stanford University The Joe W. & Dorothy Dorsett Brown Perry Glassgow Mr. Gregory Stromberg Foundation Mrs. Olga Goldberger UAW Ford Courtagen Life Sciences, Inc. Mrs. Tiffany Grove Usher Oil Company Jakes Warriors Golfers Mrs. Anne Hall Ms. Stephanie VanMeter Mr. Laird Pendleton Mr. and Ms. Tom Hodge Veeva Systems Raptor Pharmaceuticals Holland & Knight ViaGenetics Santhera Pharmaceuticals IBM Corporation Waterford Commercial & Savings Bank Mrs. Doris Snell Mr. David Keane Wausau Financial Systems Solace Nutrition Kobelco Stewart Bolling, Inc. Mr. and Mrs. W. Dan Wright Starfish Fund Mr. and Mrs. Bob Ladd Ms. Katherine Young Sure Logistics, Llc Lalilab, Inc. Dr. and Mrs. L. Shaun Williams MD Latin Brothers Inc. The Lindsey Family $1,000-$4,999 Macy’s American Endowment Foundation Mrs. Jenny McCoy Dr. and Mrs. Oscar Boultinghouse Medtronic Bradley Arant Boult Cummings Mrs. Tami Mee Mr. and Mrs. Dan Braun Microsoft Mr. and Mrs. Rich Brotherton Mr. Robert Molinari

26 UMDF Connect | Summer 2015 development

$500-$999 Mr. and Mrs. Charles Mohan Jr. Mr. and Mrs. Gene Staes Altoona Area School District Ms. Lucretia Nilmeyer State Farm Insurance Mrs. Lauren Barrett Mr. and Mrs. Tommy Nusz Ms. Jenifer Steele Dr. and Mrs. Jay Bender Ms. Amanda Oakes T.L. Rodes Elementary BLE&T Division 207 Mrs. and Mr. Michele O’Connor Tampa Bay Rays Bransford Elementary Mr. Douglass Passon Jr D.J. Tatar Mr. Michael Brewster Perry County Community Club Temple Congregation B’Nai Jehudah Buffalo Academy of the Sacred Heart Piedmont Park Conservancy, Inc. Teoco Mr. and Mrs. Roy Cederholm Jr. Pine Pharmacy The Thornsberry Family Charlotte’s Trove Mr. and Mrs. Gordon Prichard Ms. Judy Toler Chick-Fil-A at Hamilton Mill Mr. and Mrs. Joseph Rice Veterans of Foreign Wars Post #9299 City of Tampa Ms. Kathie Rodland Volkswagen Group of America Inc. Mr. William Clark Mr. and Mrs. Steve Runyon Mr. and Mrs. Li Kan Wang Convenient Food Mart Mr. Andrew Shea Wells Family Fund Mr. Anthony Crawford & Family Mr. Michael Shea The Whitehouse Family Daniel Steel & Machine Inc. Shileds Health Care Group LP Mr. and Mrs. Doug Woleben Educational Ventures Ms. Sara Jane Snell World Wide Technology, Inc First Financial Bank Southampton Middle School Mr. Rand Wortman Foe Ladies Auxiliary #251 Mr. Tag Foster G. Kidd, Inc. Introducing the Ms. Julie Grissom RedoxSYS® System Harvard Pilgrim Health Care Inc. Dr. David Hazelrigg Mr. and Mrs. Todd Hickerson Ms. Linda Howe Ms. Heather Hunt Ms. Catherine King Mrs. Lauri Klaus Mr. and Mrs. Barret Klein A proprietary technology from Aytu BioScience, the Mr. Paul Klingler RedoxSYS® System is the first and only platform that Mr. and Mrs. John Kobunski provides an accurate, easy, and complete real-time Kohl’s assessment of global redox status. Mr. and Mrs. Michael Kolodziesjski For more information about how the RedoxSYS Ms. Ronda Lawyer platform can assist in your research and clinical Ms. Joanne Ligeros initiatives visit online at www.redoxsys.com. Mr. and Mrs. John Lukas Aytu BioScience is a proud supporter of the United Mr. and Mrs. Jim Maher Mitochondrial Disease Foundation. Ms. Stacey Mangni Mr. and Mrs. Chris McKulka Meramec Valley Middle School eventsUMDF The energy providing education, support and research.

Former Ohio State Buckeye Jamal Luke and Baylee at Bet on Baylee Fundraisers Benefitting the UMDF March 21, 2015 – The 6th Annual Jackson April 24, 2015 – Girlfriend’s Journey to a May 30, 2015 – A bike run hosted by Culley Mito What? 5k was held at the USA Cure Glow Run was held in Cordele, GA the Ford City Eagles Club in memory of Stadium in Millington, TN and raised a and was a unique and fun glow in the dark Connor Hadden was held in Armstrong whopping $21,405.95! fun run! County, PA. The bikers rode to several different towns in the county before live March 28, 2015 – The EFL Walkathon: April 25, 2015 – The EFL Walkathon: music and raffles! The event raised over Atlanta was held at Piedmont Park’s Cincinnati was held at Eden Park and $4,000! Promenade Lawn. Despite the inclement raised $25,298! weather, the EFL still raised $39,942! June 20, 2015 – U Kan Jam 4 UMDF, April 25, 2015 – The EFL Walkathon: a Kan Jam tournament, was held at the March 28, 2015 – The EFL Walkathon: Pittsburgh got off to an unusually snowy Apex in Getzville, NY. The event also had Dallas - Fort Worth was held at the start; but with weather clearing up by walk games, raffles, and food! Downtown Garland Square. The event time, they were able to raise $69,918! was filled with fun activities and raised June 13, 2015 – The annual Nicholas J. $69,174! April 25, 2015 – The EFL Walkathon: St. Torpey Butterfly Golf Classic was held Louis in Tower Grove Park raised $36,467! at the Sycamore Hills Golf Course in March 28, 2015 – The EFL Walkathon: Macomb, MI. The outing included a golf Nashville managed to have a great turnout May 8, 2015 – The Julia Joules Splash a scramble and dinner, as well as raffles despite below freezing temperatures! thon was held at the Royal Oak Middle and auctions. Everyone stayed warm and energized and School in Royal Oak, MI in honor of Julia raised $25,463! Joules and her EFL team!

March 29, 2015 – The Second EFL May 9, 2015 - The EFL Walkathon: Walkathon: Tampa Bay was held at Al Evansville in Burdette Park raised $35,707! Lopez Park and raised $17,042! May 16, 2015 - The 6th Annual Breylon April 11, 2015 – The first annual EFL Senn 5k Run/Walk/Stroll was held at the Walkathon: Shreveport/Bossier City was Tri County High School in Howard City, an exciting occasion held at Airline High MI. The 5k benefitted the Breylon Senn Greater Mito Open School and raised $23,838! Research Fund through the UMDF and raised $3,027! April 18, 2015 – The 12th annual Bet June 13, 2015 – The 9th Annual Greater on Baylee event in honor of Baylee May 17, 2015 – Mito Mania/Brielle’s Mito Open (“Birdies for Brianna”) was Thompson was held at the Perry County Beauty Extravaganza was held at held at the Broadlands Golf Club in North Fairgrounds in New Lexington, OH. The Charlotte’s Trove in Roaring Springs, Prairie, WI. The event held in memory of event was a jam packed event filled PA. The event was a week-long Chinese Brianna Dobke boasted a successful golf with fun games as well as some very Auction culminating in an exciting and tournament and a beautiful dinner. impressive auction items! This year’s successful fashion show! The event raised event raised over $14,000! over $17,000! June 26, 2015 – The 3rd annual Thomas’ Golf for a Cure was held at the River Bend April 18, 2015 – The EFL Walkathon: San May 17, 2015 – Olga Goldberger hosted Country Club in West Bridgewater, MA. Francisco Bay Area was held at its new an arboretum skin care party, a skin care The event not only had golf and other golf location in the Bishop Ranch Business line that focuses on your mitochondria! related competitions but a silent auction, Park in San Ramon and raised $50,825! She raised $1,060! 50/50 raffle, and a steak dinner!

28 UMDF Connect | Summer 2015 events

Upcoming Events Thomas’ Golf for a Cure August 1, 2015 – The Carter Lackey will be a golf outing and dinner. For more memorial celebration fun run will be held information, please contact Cristina Rue at at the Waverly Glen park in Waverly, NY. [email protected]. The event will be a carnival style party with Central Regional Symposium 5k, 10k, and half marathon walk/run/bike September 19, 2015 – The Bryn Athyn UT Health-The University Texas/ options. All proceeds benefit the Carter 5k for the UMDF will take place at Bryn Children’s Memorial Hermann Lackey Research fund through the UMDF. Athyn, PA. For more information, contact Hospital, Houston, TX For more information, contact Brittany Weston Wadsworth at Weston.wadsworth@ February 12-13, 2016 Lackey at [email protected]. ancss.org. Full CME day on Friday for medical

professionals and morning meetings on August 1, 2015 – The Annual Baylee’s Ball September 26, 2015 – The second Saturday for patients/families. Bash softball tournament will be held in annual Jaxon’s Warriors 5k, 10k, and little Course Chair: Mary Kay Koenig, MD Cannelville, OH, at the Cannelville Softball warrior fun run will take place at Highland CME Chair: Bruce H. Cohen, MD Field. The entry fee per team is $120. Church of Christ. All proceeds will benefit

For more information,please email Jody the Jaxon Sharma Research Fund Southeast Regional Thompson at [email protected]. through the UMDF. For more information, Symposium please contact Amanda Sharma at Duke University School of Medicine, August 2, 2015 – Andrea Emery will be [email protected]. Durham, NC participating in a Leap for Life Sky Dive! February 19-20, 2016 benefitting her EFL Walkathon: Minnesota October 9, 2015 – The Emma Frances Full CME day on Friday for medical team Quinn’s Quest. Dalton Memorial Golf Tournament will professionals and morning meetings on be held at the Juniper Hill Golf Club Saturday for patients/families. August 3, 2015 - The Expressway BP and in Northborough, MA. All proceeds Course Chairs: Dwight Koeberl, MD and Edward Dairy Queen are donating all proceeds will benefit the Emma Frances Dalton Smith, MD from Dairy Queen and $.10 of every Research Fund through the UMDF. For CME Chair: Bruce H. Cohen, MD gallon of gas to the UMDF’s Energy for more information, please contact William

Life Walkathon: Minnesota team Leo’s Dalton at [email protected]. Great Lakes Regional Lions! For more information, contact Anne Symposium Simonsen at [email protected]. October 11, 2015 – The UMDF is Mayo Clinic, Rochester, MN partnering with the Chicago Marathon April/May 2016 – Dates TBA August 12, 2015 – The Chuck E. Cheese to raise funds and awareness for Full CME day on Friday for medical in Troy, Michigan will be hosting Blake’s mitochondrial disease. For more professionals and morning meetings on Super Powered UMDF Fundraiser to information, please contact Gary Moberly Saturday for patients/families. benefit Blake’s Super Powered Team of at [email protected]. Course Chair: Linda Hasadsri, MD, PhD EFL Detroit! 15% of all sales from 3pm- CME Chair: Bruce H. Cohen, MD 9pm will benefit the UMDF and Blake’s November 7, 2015 – The Mito Disc team! For more information, contact Golf Fundraiser will be held in Knoxville, Mitochondrial Medicine Danielle Diaz at [email protected] TN as a part of the Knoxville Disc Golf 2016: Seattle – National Association. Contact Justin Forbes for Symposium August 30, 2015- ZANEBASH will be held more information at [email protected]. DoubleTree by Hilton, Seattle, WA at Jack’s Beagle NoDa in Charlotte, NC. Scientific Program -June 15-18 The event will have live music and a silent November 2015 – Coming soon! The Family & LHON Program – June 17-18 auction. For more information, contact annual “Fall into a Cure” wine-tasting Course Chair: Russell Saneto, DO, PhD John Dungan at [email protected]. event and auction! For updates and more CME Chair: Bruce H. Cohen, MD information, visit www.umdf.org/fallintoacure

September 18, 2015 – The second Annual For details on all UMDF Symposia visit www. Carlos Alberto Memorial Golf Outing will umdf.org/symposium in the coming months. be held at the PipeStone Golf Club. There

UMDF Connect | Summer 2015 29 events

Upcoming EFL Walkathons

ur Spring 2015 Walk Season was We are looking forward to our Fall Walks! amazing! THANK YOU to our 10 Our 17 fall walks have a goal of $932,625! OEnergy for Life Walks for raising Please help us reach those goals by an outstanding $395,000! supporting one of these amazing cities!

From March through May, the walks Saturday, Aug 8 – Minnesota experienced, wind, rain, sun and even www.energyforlifewalk.org/minnesota SNOW! But through it all, we shared our Saturday, Sep 12 – Indianapolis stories, our love, laughs and our time for www.energyforlifewalk.org/indianapolis the cure. Saturday, Sep 12 - Western New York www.energyforlifewalk.org/westernnewyork Thank you to: Saturday, Sep 19 – Central Texas Energy for Life: Atlanta www.energyforlifewalk.org/centraltexas Saturday, Sep 19 – Detroit www.energyforlifewalk.org/atlanta Energy for Life: Tampa Bay www.energyforlifewalk.org/detroit Saturday, Sep 19 – Del/Val www.energyforlifewalk.org/tampabay Energy for Life: Cincinnati www.energyforlifewalk.org/delval Saturday, Sep 19 – Kansas City www.energyforlifewalk.org/cincinnati Energy for Life: St. Louis www.energyforlifewalk.org/kansascity Saturday, Sep 19 – New Orleans www.energyforlifewalk.org/stlouis Energy for Life: Nashville www.energyforlifewalk.org/neworleans Sunday, Sep 20 – Chicago www.energyforlifewalk.org/nashville Energy for Life: Evansville www.energyforlifewalk.org/chicago Saturday, Sep 26 – Omaha www.energyforlifewalk.org/evansville Energy for Life: Pittsburgh www.energyforlifewalk.org/omaha Saturday, Sep 26 – S. Wisconsin www.energyforlifewalk.org/pittsburgh Energy for Life: Dallas www.energyforlifewalk.org/southernwisconsin Saturday, Oct 3 – Akron www.energyforlifewalk.org/dallasfortworth Energy for Life: Shreveport/Bossier City www.energyforlifewalk.org/akron Sunday, Oct 4 – Seattle www.energyforlifewalk.org/sbc Energy for Life: San Francisco Bay www.energyforlifewalk.org/seattle Saturday, Oct 17 – Birmingham www.energyforlifewalk.org/sanfrancisco www.energyforlifewalk.org/birmingham P.S. It’s not too late to make a donation or Saturday, Oct 17 – Charlotte to double your donation with a matching www.energyforlifewalk.org/charlotte gift! Ask your employer if they match gifts! Saturday, Oct 24 – Columbus, GA www.energyforlifewalk.org/columbusga Saturday, Nov 14 – Fort Myers www.energyforlifewalk.org/southwestflorida

30 UMDF Connect | Summer 2015 Are you looking for someone to connect with? Connect with a UMDF Ambassador, an UMDF affected individual/family member who would be happy to network with you. To get started, complete our contact form at http://secure.umdf.org/RegionalContact or call us toll-free at 1-888-317-8633. national Are you interested in volunteering? If yes, please visit www.umdf.org/volunteeropps!

News from the national office. NETWORK WITH OTHERS What UMDF region do you live in?

Below are the UMDF’s current regional coordinators and their email addresses. Inspire is a free online patient/caregiver community organized by discussion We also encourage you to stay topics. Visit us at: up to date in your region by www.inspire.com/groups/united-mitochondrial- visiting the regional webpages disease-foundation listed below!

Follow us on

Northeast Region 2 Great Lakes Region 4 Nicole Shanter Anne Simonsen [email protected] [email protected] The UMDF Facebook Group is intended www.umdf.org/northeast www.umdf.org/greatlakes for networking with affected individuals and families. Join us at https://www.facebook.com/#!/groupsumdfgroup. Southeast Region 3 Margaret Moore “Like” our page to stay updated! Simply [email protected] type United Mitochondrial Disease www.umdf.org/southeast Foundation in the search box on Facebook to find our page.

United Mitochondrial Disease Foundation Staff Executive Staff Finance Development & Charles A. Mohan Jr. Mark Campbell Member Services Nicole Shanter CEO/Executive Director Chief Financial Officer Beth Whitehouse Regional Coordinator - Northeast Janet Owens Donna Nameth Director of Development Executive Administrative Asst. Data Entry Manager Tania Hanscom Margaret Moore National Walk Manager Regional Coordinator - Philip Yeske, PhD Barbara Cullaj Southeast Science and Alliance Officer Administrative Assistant Cassie Franklin Gifts Officer Anne Simonsen Regional Coordinator - UMDF Symposia Communications Julie Hughes Great Lakes Kara Strittmatter Clifford Gorski Development Associate/ Grants Leslie Heilman, JD Meeting Event Director Director of Communications Development Associate/ Jeff Gamza Tara Maziarz Matching Gifts Multimedia Coordinator Development Associate/ Social Media

UMDF Mission To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. The UMDF focuses on coordination, communication and collaboration. We bring people and resources together to make an impact on diagnoses, treatments and a cure for mitochondrial disease.

UMDF Connect | Summer 2015 31 Join the UMDF on the Path to a Cure! ooking for a unique way to honor your loved one? Consider • The “Hope” brick allows the purchaser to add up to 75 characters of purchasing a brick on UMDF’s Path to a Cure and help us fund text for a $25 donation. crucial research at the same time. The donation of a virtual brick • The “Energy” brick allows the purchaser to upload a JPEG picture and on UMDF’s Path to a Cure is a perfect way to honor a loved one or allows for up to 125 characters of text for a $50 donation. celebrateL the memory of a mitochondrial disease patient. • The “Life” brick allows the purchaser to upload a JPEG picture, an online video (from You Tube or Vimeo and can be any length), and up to UMDF’S Path to A Cure offers three different types of virtual bricks for 250 characters of text for a $100 donation. purchase. You can create your own path, or add to the path of a friend or loved one. Start your path now or donate a brick to another’s path simply by visiting www.umdfpathtoacure.org!

8085 Saltsburg Road, Suite 201 Pittsburgh, PA 15239

Donate today! Every dollar counts. Visit www.umdf.org.