IN THIS ISSUE SPRING/SUMMER 2017 • ISSUE 7 EINSTEIN 2 Rapin Conference: Tuberous Sclerosis 3 Rare Disease Day Albert Einstein College of Medicine OF YES HIV A U N I VER S I T Y 3 Featured Investigator: Suzanne Zukin Science at the heart of medicine 4 Awards, Grants & Updates NEWS Rose F. Kennedy Intellectual and Developmental Disabilities Research Center Birth of Hope for People with Intellectual Disabilities: 50 Years and Counting
“Although we have attacked on the broad front the problems of mental illness, although we have made great strides in the battle against disease, we as a nation have for too long postponed an intensive search for solutions to the problems of the mentally retarded.* That failure should be corrected.” – President John F. Kennedy October 11, 1961
week after President Kennedy spoke these words at a news con- A ference, Eunice Kennedy Shriver hosted a meeting of the 27-member President’s Panel on Mental Retardation Rose (fourth from right) and Robert Kennedy (third from right) at the groundbreaking at the White House. The panel, headed of the Rose F. Kennedy Center in November 1966. by Dr. Leonard Mayo, was charged with delivering—within a year—a report on its report. It recommended development disability. People soon realized that the what the nation should do to address of research facilities (called Mental president’s October 1961 news confer- the problem raised by the president. Retardation Research Centers or MRRCs) ence had held personal meaning; one The panel quickly broke into two to advance understanding of the causes of his siblings was affected. In October factions, one headed by Dr. Seymour of the condition, and university-affiliated 1963, just three weeks before he was Kety and other scientists who empha- facilities (UAFs) to address the need for assassinated, President Kennedy signed sized the importance of basic research, excellent clinical care for those affected. into law PL88-164, which established 12 the second by Dr. Anne Ritter and At around the same time, an article MRRCs and 18 UAFs. other behavioral/social scientists who appeared in the Saturday Evening The MRRCs were to be funded by advocated for high-quality clinical Post in which Eunice Kennedy Shriver a newly established section of the care. In 1962, after a year of debate, revealed for the first time that her sister, National Institutes of Health (NIH), the President’s Panel delivered Rose Marie Kennedy, had intellectual (continued on page 2)
*At the time these words were spoken “mental retardation” was the accepted term for the condition we now know as “intellectual disability.”
Newsletter for the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center Birth of Hope forfor thethe MentallyIntellectually Retarded Disabled (continued (continued from pagefrom page1) 1) known as the National Institute of constructionRose and Robert of a newKennedy MRRC, attended which theneuroscience leadership ofin Dr.the Dominickcountry, under Purpura, the Child Health and Human Development wouldgroundbreaking bear the name ceremonies of the late for thepresi - wholeadership succeeded of Dr. Dr. Dominick Gordon asPurpura, the center’s (NICHD), which had been created as dent’sconstruction mother. of a new center, which director.who succeeded Dr. Gordon as the a result of lobbying efforts made by wouldAs Rose bear Kennedy the name said of the during president’s this center’sTo celebrate director. these successes, and in Eunice Kennedy Shriver and others on momentousmother. event, “Fifty years ago anticipationTo celebrate of future these advances successes, in inteland -in behalfon behalf of the of theKennedy Kennedy family. family. In 1987, whenAs IRose was seekingKennedy help said for during my own this lectualanticipation disability of futureresearch advances and treatment, in intel- MRRCsFollowing changed widespread their collectiverecognition name of the daughtermomentous who event, was retarded, “Fifty years there ago was welectual are holding disability a 50thresearch anniversary and treatment, sym- topejorative Intellectual nature and of Developmental the term ‘mental nowhen place I was to seekingturn. I was help bewildered, for my own posiumwe are forholding the Rose a 50th F. Kennedy anniversary IDDRC sym - Disabilitiesretardation,’ Research the NICHD Centers changed (IDDRCs). the frustrateddaughter whoand heartbrokenwas retarded, to there learn was how onposium November for the 2, Rose2017. F. Please Kennedy mark IDDRC your nameA key of theadvisor MRRC’s to the to KennedysIntellectual dur and- littleno place was knownto turn. and I was how bewildered, little could be calendarson November for this 2, important2017. Please event. mark your Developmental Disabilities Research frustrated and heartbroken to learn how calendars for this important event. ing this period was Dr. Robert Cooke, done...I hope my name, as a mother of – Steven U. Walkley, director, the Centers (IDDRCs). little was known and how little could be a prominent pediatrician at Johns a retarded child, may bring faith and –Rose Steven F. U.Kennedy Walkley, Intellectual director, the and A key advisor to the Kennedys during done...I hope my name, as a mother of a Hopkins who himself had two children hope and confidence to other mothers, DevelopmentalRose F. Kennedy DisabilitiesIntellectual and this period was Dr. Robert Cooke, a retarded child, may bring faith and hope Developmental Disabilities with intellectual disability. A colleague as they realize the perseverance and Research Center (RFK IDDRC) ofprominent Dr. Cooke’s pediatrician in Baltimore at Johns was another Hopkins zeal,and confidencethe self-sacrifice to other and mothers,devotion, as ofthey Research Center (RFK IDDRC) pediatrician,who himself hadHarry two Gordon, children who with in 1962 scientistsrealize the and perseverance doctors working and zeal, here.” the wasintellectual recruited disability. to Albert A Einsteincolleague College of self-sacrificeOver the past and half devotion, century, ofwe scientists have SAVE THE DATE! ofDr. Medicine. Cooke’s in Once Baltimore here, wasDr. Gordon, another comeand doctors to better working understand here.” the causes undoubtedlypediatrician, Harrythrough Gordon, the influence who in 1962 of of intellectualOver the past disability half century, and ways we tohave RFK IDDRC will celebrate its was recruited to Albert Einstein College come to better understand the causes of Dr. Cooke, set out to bring one of the treat it. The Rose F. Kennedy Center has 50TH ANNIVERSARY on covetedof Medicine. 12 MRRCs Once here,to Einstein. Dr. Gordon, beenintellectual at the disabilityforefront ofand many ways of to these treat undoubtedlyHis effort was through successful, the influence and in 1966, of developments;it. The Rose F. Kennedyin 1974, theCenter center has also been Thursday, November 2, 2017! RoseDr. Cooke, and Robert set out Kennedy to bring attended one of the gaveat the rise forefront to one ofof manythe first of thesedepartments devel- Mark your calendars; details to follow! groundbreakingcoveted 12 MRRCs ceremonies to Einstein. for the ofopments; neuroscience in 1974, in thethe country,center also under gave His effort was successful, and in 1966, rise to one of the first departments of
THE FIFTH ANNUAL ISABELLE RAPIN CONFERENCE: TUBEROUS SCLEROSIS n November 8, 2016, the Rose F. Kennedy chief scientific officer of the Tuberous Sclerosis Alliance; Peter Intellectual and Developmental Disabilities Research Crino, M.D., Ph.D., professor and chair of neurology at the OCenter (RFK IDDRC) hosted its fifth annual Isabelle University of Maryland School of Medicine; and Michael Wong, Rapin Conference, named for the late professor emerita of M.D., Ph.D., the Allen P. and Josephine B. Green professor the Saul R. Korey Department of Neurology and the depart- of pediatric neurology at the Washington University School ment of pediatrics. Each year, the conference focuses on a of Medicine. genetically based neurodevelopmental disorder, or a group From Einstein-Montefiore, the event featured Fatema of such disorders, that is of particular interest to the clinical Malbari, M.D., director of the Montefiore Neurocutaneous and research community at Einstein-Montefiore. Center, and Adam S. Levy, M.D., director of pediatric neuro- This year, the focus was tuberous sclerosis (TS), a rare, oncology at CHAM. multisystemic genetic disease that causes the growth of The IDDRC-sponsored event also included a presentation by benign tumors all over the body, including, in some cases, Luisa Vidal, a TS family caregiver, who offered a personal view in the brain and other vital organs. Like many genetic of the disorder. For more details, go to www.einstein.yu.edu/ disorders, TS is highly variable, with some patients exhib- docs/centers/iddrc/Rapin-2016-Program.pdf; for video, see iting many more signs and symptoms than others. The www.einstein.yu.edu/centers/iddrc/seminars-workshops/. complexity of TS requires the kind of multidisciplinary approach that has become a hallmark of the Einstein- Montefiore system; clinicians actively and comprehensively treat people with the disease at the Neurocutaneous Center at the Children’s Hospital at Montefiore (CHAM) in the Bronx (www.cham.org/programs-centers/ neurocutaneous-center). The November conference included a number of notable speak- Back row, left to right: Steven U. Walkley, director of the IDDRC; Melissa P. ers, among them Elizabeth A. Thiele, Wasserstein; Peter Crino; Michael Wong; and Solomon L. Moshe. Front row, left M.D., Ph.D., director of the Pediatric to right: Adam S. Levy; Fatema Malbari; Isabelle Rapin; Luisa Vidal, a relative of a Epilepsy Program at the Herscot Center tuberous sclerosis patient; Elizabeth A. Thiele; Steven L. Roberds; Sophie Molholm, for Tuberous Sclerosis Complex at associate director of the IDDRC; and Aristea S. Galanopoulou. Massachusetts General Hospital and WeOn Mayare saddened 24, 2017, toIsabelle report Rapin, that on M.D. May, 24,professor 2017, Isabelleemerita Rapin,in the Saul M.D. R., professorKorey professor of neurology at Harvard emeritaDepartment in the of Saul Neurology R. Korey and Department of pediatrics of Neurologyat Einstein andand ofa neurologistpediatrics at at Einstein Medical School; Dr. Steven L. Roberds, andMontefiore, a neurologist passed at Montefiore,away following passed a brief away illness. following She was a brief89. illness. She was 89. featured investigator
R. SUZANNE ZUKIN, Ph.D. Professor, Dominick P. Purpura Department Ca2+-permeable AMPA receptors are important in synap- of Neuroscience tic plasticity, the response to stress and a myriad of brain F. M. Kirby Chair in Neural Repair disorders, including stroke, global ischemia, epilepsy, spinal and Protection cord injury, cocaine addiction and withdrawal, ALS and alco- Director, Neuropsychopharmacology Center holism. In 2008, Dr. Zukin became the first F. M. Kirby Chair ne of the most notable research- in Neural Repair and Protection, and in 2012 she published ers at Albert Einstein College of another seminal finding: that the gene-silencing transcrip- OMedicine—and within the Rose F. tion factor REST orchestrates epigenetic remodeling and Kennedy Intellectual and Developmental drives the switch in synaptic NMDA receptors during brain Disabilities Research Center (RFK IDDRC) development. This is significant in that it represents the —is Dr. R. Suzanne Zukin, who came to Einstein in 1977 first demonstration that REST is expressed in differentiated immediately following a postdoctoral fellowship in the labo- neurons under physiological conditions and is critical to ratory of Dr. Daniel Koshland at the University of California the fine-tuning of genes involved in synaptic plasticity. Dr. at Berkeley. Prior to joining Dr. Koshland’s lab, Dr. Zukin had Zukin’s work on synaptic NMDA, AMPA receptor proper- already distinguished herself by having earned a bachelor’s ties, mTOR signaling and synaptic efficacy in response to degree, cum laude, from Bryn Mawr College in chemistry, and external cues, via epigenetic mechanisms, is far-reaching by having received her Ph.D., with distinction, from the Johns and was critical in uncovering the mechanisms that under- Hopkins University School of Medicine. However, it was while in lie autism, fragile X syndrome, schizophrenia, stroke and Dr. Koshland’s lab at Berkeley that Dr. Zukin began her distin- addictions. guished career of discovery and found that bacteria such as Among her many awards and honors, in 1983 Dr. Zukin salmonella, use chemoreceptors to detect metal ions such was inducted into the American College of Neuropsycho- as Mg2+. pharmacology, and was elected a lifetime fellow in 2013. In Within two years of having established her lab at Einstein, 2009, she was a recipient of the McKnight Neuroscience of Dr. Zukin published her seminal paper on the phencyclidine Brain Disorders Award, and in 2014, she was given the receptor (1979), a paper that became a citation classic in 1982. NARSAD Distinguished Investigator Award. She has been By 1987, Dr. Zukin was a full professor in the department of the beneficiary of numerous NIH and foundation grants, neuroscience and director of the Neuropsychopharmacology most recently Rest-Activated Program of Gene Expression Center at Einstein. In 1997, she made her landmark discov- in Ischemia (5R01 NS046742) and Epigenetic Remodeling ery that Ca2+-permeable AMPA receptors are expressed in of NMDA Receptors (5R01 HD083828-01A1), and she is response to neuronal activity and insults and play a critical role the author of over 185 peer-reviewed papers in eminent in neuronal injury and neuronal death, and in 2003, her group journals and over 40 book chapters. showed that the mechanism underlying the switch in AMPAR phenotype at insulted hippocampal synapses from Ca2+- ON THE WEB: For more about Dr. Zukin and impermeable to Ca2+-permeable involves REST-dependent the work her lab is doing, visit epigenetic remodeling. It is now well established that www.einstein.yu.edu/faculty/6725/r-suzanne-zukin/.
“LIVING IN THE LIGHT TM”: INTERNATIONAL RARE DISEASE DAY 2017 WITH LEVI GERSHKOWITZ
n February 28, 2017, the RFK IDDRC hosted Einstein’s fifth annual Rare Disease Day celebration. OThe event featured photojournalist/ethnographer Levi Gershkowitz, founder of Living in the Light, a nonprofit advocacy initiative that uses photography and personal narratives to educate the public about the difficulties and challenges faced by those affected by rare diseases. For the past five years, Living in the Light has attempted to convey the unspoken thoughts and feelings of people with rare diseases in hopes that the two-dimensional view, which usually shows people only as patients and focuses solely on their diseases, can be expanded to include full portraits of each unique human being. The event also featured presentations by parent advocates, and a separate poster session in the Forchheimer Building, on Main Street, Levi Gershkowitz , Living in the Light founder and highlighting rare diseases Einstein-Montefiore researchers photographer, standing next to one of his “storyboards” are currently studying. For additional information, visit in the Price Center/Block Research Pavilion lobby. www.einstein.yu.edu/centers/iddrc/seminars-workshops/. NOTEWORTHY PUBLICATIONS Dr. Noboru Hiroi recently published awards and grants three manuscripts on cognitive deficits in 22 11.2 mouse models: A Self- enerated Environmental Factor as a 2017 RFK IDDRC PILOT AND CONGRATULATIONS Potential Contributor to Atypical Early FEASIBILITY AWARDS Social Communication in Autism Dr. Aristea Galanopoulou received the 2017 (Neurops chopharmacolog , December Scott Emmons, Ph.D. Binding Studies of Saul R. Korey Prize for Translational Medicine 2016) Human COMT Over-Expression Neural Cell Adhesion Proteins and Science at Albert Einstein College of Confers a Heightened Susceptibility to Medicine. Anna Francesconi, Ph.D. Exploring nAChR Dyskinesia in Mice (Neuro iolog of Function in Fragile X Syndrome Dr. Karen Bonuck received a grant from the Disease, June 2017) and Cry, Baby, Cry: American Sleep Medicine Foundation for Expression of Distress as a Biomarker Bryen ordan, Ph.D. Converging Mechanisms Expanding urveillance of leep Pro lems and and Modulator in Autism Spectrum in Autism Spectrum Disorder Ris actors for peech- anguage Impairment Disorder (International ournal of Bernice Morrow, Ph.D. Whole Exome in oung hildren. Neurops chopharmacolog , February 2017). Sequence Analysis of ID in Patients with Dr. Eric Hollander, anna idivarin D Dr. David H. Hall published elegans 22q11.2DS vs Place o in hildren ith Autism pectrum Neurons Jettison Protein Aggregates and Lars Ross, Ph.D. Cerebellar Hypoplasia Disorder A D , was awarded 1,267,800 over Mitochondria under Neurotoxic Stress in and Saccadic Adaptation in Autism Spectrum four years by the Department of Defense office the February 8, 2017, edition of Nature. Disorder of Congressionally Directed Medical Research For more information, see www.einstein. Programs. This phase 2, double-blind, yu.edu/r/ rain. Su anne Zukin, Ph.D. Autophagy as a New randomized, placebo-controlled study Therapeutic Target for Cognitive Defects in will investigate CBD as a treatment for Fragile X Syndrome HIGHLIGHTS the core symptoms of ASD. On November 7, 201 , the Rett Syndrome RECENT NIH GRANTS Dr. Theodore Kastner, RFK IDDRC member Center hosted a fundraising event at and director of Children’s Evaluation and Capitale in New ork City. ith over 00 Hannes Buelow, Ph.D. PI Rehabilitation Center, was awarded a in attendance, 0,000 was raised for NI /NINDS 1R01NS0 72-01A1 3.5 million, five-year grant, Interdisciplinar the Children’s ospital at Montefiore 0 /01/201 0 / 1/2021 eadership raining in Neurodevelopmental and the Rett Syndrome Research Trust. Genetic Analyses of Dendrite Development and Related Disa ilities (T73 MC00027), Congratulations to Dr. Aleksandra D ukic in Caenorhabditis elegans to support the Rose F. Kennedy Leadership and to all involved Education in Neurodevelopmental and Scott W. Emmons, Ph.D. PI Related Disabilities program. On May 21, 2017, Einstein and Montefiore NI /NIM 1R01M 112 8 -01 hosted their annual 22q Day at the oo 02/1 /2017 11/ 0/2021 Drs. Kastner Bonuck also received a renewal event. For more information about 22q at for the University Center for Excellence in Neural Cell Adhesion Genes in Synaptic Montefiore, go to www.einstein.yu.edu/r/ Developmental Disabilities (UCEDD) for Specificity de ete. 2,735,000 over the next 5 years. Aristea Galanapoulou, M.D., Ph.D. PI , and On September 1 , 2017, Einstein-Montefiore Solomon Moshe, M.D. PI NEW RFK MEMBERS will be opening its first 22q11.2DS NI /NINDS 1 NS10000 -01 clinic at the utchinson Metro Center, 01/1 /2017 11/ 0/2021 The RFK IDDRC welcomed . Tiago one of the new Montefiore outpatient The Epilepsy Bioinformatics Study for Anti- Gon alves, Ph.D., into its membership last locations. The center is the first 22q11.2DS Epileptogenic Therapy (Epibios4RX) Project 2 fall. Dr. on alves is an assistant professor multidisciplinary center in New ork. For in the Dominick P. Purpura Department of more information, please contact Erica Steven Walkley, D.V.M., Ph.D., and Neuroscience and in the Stem Cell Institute. Kessler at . Sophie Molholm, Ph.D. erica.kessler einstein.yu.edu To read more about Dr. on alves’ lab, D0 02 0-01 see www.einstein.yu.edu/r/tia o. 0 /01/201 08/ 1/2021 IN THE MEDIA Support for the Rose F. Kennedy IDD To become an RFK IDDRC member, The Atlantic interviewed Dr. Eric ollander
Research Center please email Dr. Steven U. Walkley at about his study suggesting a link between ste e.walkley einstein.yu.edu or visit autism and addiction March 21, 2017 . R. Su anne Zukin, Ph.D. PI www.einstein.yu.edu/r/in est. For more, visit www.einstein.yu.edu/r/ NI /NIC D 1R01 D08 828-01A1 autism . 0 /08/201 0 / 0/2021 Epigenetic Remodeling of NMDA Receptors
ALBERT EINSTEIN ADMINISTRATION E ECUTIVE COMMITTEE To support the work of the ROSE F. KENNEDY IDDRC Director MEMBERS RFK IDDRC, contact: te en . alkley . . . . leksandra ukic . . . . Albert Einstein College of Medicine Our mission: to improve the lives ack and Pearl Resnick Campus Associate Director rai ranc . . of children with intellectual and 1 00 Morris Park Avenue ie l l . . ernice . rr w . . developmental disabilities through arold and Muriel Block Bldg., Rm. 72 research and clinical outreach. Administrator ytautas erselis . . Bronx, New ork 10 1 The center actively supports and isa uill ry . . elissa . asserstein . . Phone 718. 0.2 11 encourages collaboration among Administrative Assistant institutionaladvancement einstein.yu.edu bench scientists and clinicians. rances ndrade www.einstein.yu.edu/donors