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Reframing Psychiatry for Precision Medicine
Reframing Psychiatry for Precision Medicine Elizabeth B Torres 1,2,3* 1 Rutgers University Department of Psychology; [email protected] 2 Rutgers University Center for Cognitive Science (RUCCS) 3 Rutgers University Computer Science, Center for Biomedicine Imaging and Modelling (CBIM) * Correspondence: [email protected]; Tel.: (011) +858-445-8909 (E.B.T) Supplementary Material Sample Psychological criteria that sidelines sensory motor issues in autism: The ADOS-2 manual [1, 2], under the “Guidelines for Selecting a Module” section states (emphasis added): “Note that the ADOS-2 was developed for and standardized using populations of children and adults without significant sensory and motor impairments. Standardized use of any ADOS-2 module presumes that the individual can walk independently and is free of visual or hearing impairments that could potentially interfere with use of the materials or participation in specific tasks.” Sample Psychiatric criteria from the DSM-5 [3] that does not include sensory-motor issues: A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. -
Sensory Deficits in a Mouse Model of Christianson Syndrome Tarheen
Sensory Deficits in a Mouse Model of Christianson Syndrome Tarheen Fatima Department of Physiology McGill University, Montreal April 2019 A thesis submitted to McGill University in partial fulfillment of the requirements of the degree of Master of Science. © Tarheen Fatima 2019 Abstract Christianson Syndrome (CS) is a recently characterized X-linked neurodevelopmental disorder caused by loss-of-function mutations in the gene slc9a6, encoding the endosomal Na+/H+ Exchanger 6 (NHE6). The disorder is associated with developmental delay, intellectual disability, loss of motor coordination, mutism, ataxia, epilepsy, as well as autistic features. In addition to these symptoms, CS patients exhibit elevated pain thresholds to noxious stimuli as well as discomfort at normally innocuous stimuli. The underlying causes of these sensory deficits are yet to be determined. Hence, this study aims at understanding how loss-of-function of NHE6 affects transmission and processing of pain. To this end, we examined the expression of NHE6 in peripheral and central neurons implicated in sensation and interpretation of pain. Additionally, we characterized the nociceptive behaviour of NHE6 knockout (KO) mice using a battery of behaviour tests. Our immunohistochemical experiments demonstrate that NHE6 is highly expressed in nociceptive, small-diameter dorsal root ganglia (DRG) neurons. Moreover, mice lacking NHE6 display decreased responses to noxious mechanical, thermal and chemical stimuli but are more responsive to noxious cold than wild-type littermates. Interestingly, immunohistochemical characterization of DRG tissue from aged NHE6 null mice indicates a decrease in some neuronal subsets suggesting cell death. Finally, using light brush-induced Fos activation in the dorsal horn, we found that the spinal processing of innocuous stimuli is not different between wildtype and NHE6 knockout mice. -
What Is Christianson Syndrome? by Dr
What is Christianson Syndrome? By Dr. Eric Morrow Christianson syndrome is a genetic disorder that affects brain development. It is an “X-linked” disorder (see “Why is CS found only in boys?” section for a description of what X-linked means). Symptoms of CS usually appear in infancy and include epilepsy and intellectual disability. Although the exact prevalence of Christianson syndrome is unknown, a genetic study by Tarpey and colleagues identified Christianson Syndrome in 2 of about 200 families (about 1% of families with apparent X-linked developmental disabilities). This was among the most common genetic change in X-linked forms of intellectual disability. What are the causes of Christianson syndrome? Christianson syndrome is caused by changes in the gene, SLC9A6. Genes are important because they code for proteins, which carry out essential processes in the cells of our bodies. The SLC9A6 gene codes for the NHE6 protein. NHE6 is part of a family of proteins that are sodium (Na+)/hydrogen (H+) exchangers. The NHE6 protein is found in endosomes, which take up molecules to be destroyed or recycled for other processes in our body. NHE6 makes sure that these endosomes have the correct intra-endosomal acid level by letting in Na into the endosome and getting rid of hydrogen, which is the acid molecule. The acid level regulates protein turnover. My analogy our stomach acid, the acidity in endosomes helps degrade cellular proteins. These genetic changes in SLC9A6 cause the NHE6 protein to not work properly. You may have heard words such as “loss-of-function”, “truncation” or “frame- shift”, which describe how the NHE6 protein cannot be made in the cells to carry out these processes in the endosome. -
Luca Bartolini, MD 1 8/9/2021 CURRICULUM VITAE LUCA
8/9/2021 CURRICULUM VITAE LUCA BARTOLINI, MD Director, Pediatric Epilepsy Program Hasbro Children’s Hospital Assistant Professor of Pediatrics Assistant Professor of Neurology Assistant Professor of Neurosurgery The Warren Alpert Medical School of Brown University Email: [email protected] EDUCATION: Undergraduate Liceo Classico “Tito Livio”, Padova, Italy Medical School University of Padova School of Medicine, Padova, Italy 09/2000 – 07/2006 Doctor of Medicine (M.D.) POSTGRADUATE TRAINING: Residency Obstetrics and Gynecology University of Parma, Italy 07/2007 – 01/2008 Pediatrics (Pediatric Neurology Track) University of Padova, Italy 04/2008 – 10/2013 Pediatrics Children’s National Medical Center / The George Washington University, Washington DC 07/2012 – 06/2013 Child Neurology Children’s National Medical Center / The George Washington University, Washington DC 07/2013 – 06/2016 Luca Bartolini, MD 1 Fellowship Neuroscience Research Children’s National Medical Center / The George Washington University, Washington DC National Institutes of Health, Bethesda, MD 07/2016 – 06/2017 Epilepsy National Institutes of Health, Bethesda, MD 07/2017 – 06/2018 Clinical Neurophysiology National Institutes of Health, Bethesda, MD 07/2018 – 06/2019 POSTGRADUATE HONORS AND AWARDS: Research Career Symposium Scholarship American Academy of Neurology 02/2015 Pediatric Epilepsy Fellow Pipeline Travel Scholarship Epilepsy Foundation of America 12/2015 Sentinel of Science Award (Top 10% of Researchers contributing to the peer-review of the field of Medicine) -
Through 2019 Season 1980 1983 1986 7-5-1 7-6-3 Overall 5-11-1 Overall Coach Steve Knipstein Coach Ron Cervasio Coach Noel Cotterell
Year-by-Year Schedule & Results - Through 2019 Season 1980 1983 1986 7-5-1 7-6-3 overall 5-11-1 overall Coach Steve Knipstein Coach Ron Cervasio Coach Noel Cotterell 9/16 EASTERN NAZARENE W 1-0 9/8 ROGER WILLIAMS T 1-1 9/8 at Eastern Nazarene L 1-2 9/27 U. OF NEW ENGLAND W 4-0 9/10 RHODE ISLAND T 1-1 9/17 at Roger Williams L 0-3 10/1 FITCHBURG STATE L 0-5 9/12 EASTERN NAZARENE W 3-2 9/20 SUFFOLK T 1-1 10/3 ROGER WILLIAMS L 0-1 9/15 HAWTHRONE L 0-2 9/22 at Fitchburg State L 2-7 10/6 NEW HAMPSHIRE COLLEGE T 1-1 9/19 PLYMOUTH STATE L 0-5 9/24 at Plymouth State L 0-4 10/13 MERRIMACK W 2-0 9/21 UNIV. LOWELL L 0-3 9/27 at Bridgewater State W 3-2 10/16 FRAMINGHAM STATE W 5-3 9/27 FITCHBURG STATE W 3-0 10/2 at Salem State L 0-6 10/18 BRIDGEWATER STATE W 1-0 10/1 SALEM STATE W 2-1 10/4 SOUTHEASTERN MASS. W 2-0 10/20 WORCESTER STATE L 0-3 10/11 MERRIMACK W 3-0 10/9 SALVE REGINA L 2-3 10/22 CURRY L 0-1 10/13 FRAMINGHAM W 2-1 10/11 at Framingham State W 5-1 10/31 PLYMOUTH STATE L 1-8 10/17 WORCESTER STATE W 1-0 10/15 at Curry W 1-0 11/3 EMERSON W 7-2 10/19 CURRY T 0-0 10/21 MERRIMACK L 2-4 11/5 MASS. -
Circle of Scholars
Circle of Scholars 2021 Spring Online Circle Courses of Scholars Salve Regina University’s Circle of Scholars is a lifelong learning program for adults of all inclinations Online Seminar Catalog and avocations. We enlighten, challenge, and entertain. The student-instructor relationship is one of mutual respect and offers vibrant discussion on even the most controversial of global and national issues. We learn from each other with thoughtful, receptive minds. 360 degrees. Welcome to Salve Regina and enjoy the 2020 selection of fall seminars. Online registration begins on Wednesday, February 3, 2021 at noon www.salve.edu/circleofscholars Seminars are filled on a first-come, first-served basis. Please register online using your six-digit Circle of Scholars identification number (COSID). As in the past, you will receive confirmation of your credit card payment when you complete the registration process. For each seminar you register for, you will receive a Zoom email invitation to join the seminar 1-3 days before the start date. If you need assistance or have questions, please contact our office at (401) 341-2120 or email [email protected]. Important Program Adjustments for Spring 2021 • Most online seminars will offer 1.5 hour sessions. • Online class fees begin at $15 for one session and range to $85 for 8 sessions. • The 2019-2020 annual membership was extended from July 2019 - December 2020 due to COVID- 19. Membership renewal is for • Zoom is our online platform. If you do not have a Zoom account already, please visit the Zoom website to establish a free account at https://zoom.us. -
Amyloid Clearance Defect in Apoe4 Astrocytes Is Reversed by Epigenetic Correction of Endosomal Ph
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH Hari Prasada and Rajini Raoa,1 aDepartment of Physiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205 Edited by Reinhard Jahn, Max Planck Institute for Biophysical Chemistry, Goettingen, Germany, and approved June 6, 2018 (received for review January 28, 2018) Endosomes have emerged as a central hub and pathogenic driver ability (7–9). Patients who have CS also show striking age- of Alzheimer’s disease (AD). The earliest brain cytopathology in dependent neurodegeneration, with prominent glial pathology neurodegeneration, occurring decades before amyloid plaques and phosphorylated tau deposits (7). Female carriers have and cognitive decline, is an expansion in the size and number of learning difficulties and behavioral issues, and some present with endosomal compartments. The strongest genetic risk factor for low Mini-Mental State Examination scores suggestive of early sporadic AD is the e4 allele of Apolipoprotein E (ApoE4). Previous cognitive decline (10). Interestingly, NHE6 was among the most studies have shown that ApoE4 potentiates presymptomatic endo- highly down-regulated genes (up to sixfold) in the elderly (70 y) somal dysfunction and defective endocytic clearance of amyloid brain, compared with the adult (40 y) brain (11). These obser- beta (Aβ), although how these two pathways are linked at a cel- vations led us to consider a broader role for NHE6 in neuro- lular and mechanistic level has been unclear. Here, we show that degenerative disorders, including Alzheimer’s disease (AD), a aberrant endosomal acidification in ApoE4 astrocytes traps the major cause of dementia in the elderly. -
FICE Code List for Colleges and Universities (X0011)
FICE Code List For Colleges And Universities ALABAMA ALASKA 001002 ALABAMA A & M 001061 ALASKA PACIFIC UNIVERSITY 001005 ALABAMA STATE UNIVERSITY 066659 PRINCE WILLIAM SOUND C.C. 001008 ATHENS STATE UNIVERSITY 011462 U OF ALASKA ANCHORAGE 008310 AUBURN U-MONTGOMERY 001063 U OF ALASKA FAIRBANKS 001009 AUBURN UNIVERSITY MAIN 001065 UNIV OF ALASKA SOUTHEAST 005733 BEVILL STATE C.C. 001012 BIRMINGHAM SOUTHERN COLL ARIZONA 001030 BISHOP STATE COMM COLLEGE 001081 ARIZONA STATE UNIV MAIN 001013 CALHOUN COMMUNITY COLLEGE 066935 ARIZONA STATE UNIV WEST 001007 CENTRAL ALABAMA COMM COLL 001071 ARIZONA WESTERN COLLEGE 002602 CHATTAHOOCHEE VALLEY 001072 COCHISE COLLEGE 012182 CHATTAHOOCHEE VALLEY 031004 COCONINO COUNTY COMM COLL 012308 COMM COLLEGE OF THE A.F. 008322 DEVRY UNIVERSITY 001015 ENTERPRISE STATE JR COLL 008246 DINE COLLEGE 001003 FAULKNER UNIVERSITY 008303 GATEWAY COMMUNITY COLLEGE 005699 G.WALLACE ST CC-SELMA 001076 GLENDALE COMMUNITY COLL 001017 GADSDEN STATE COMM COLL 001074 GRAND CANYON UNIVERSITY 001019 HUNTINGDON COLLEGE 001077 MESA COMMUNITY COLLEGE 001020 JACKSONVILLE STATE UNIV 011864 MOHAVE COMMUNITY COLLEGE 001021 JEFFERSON DAVIS COMM COLL 001082 NORTHERN ARIZONA UNIV 001022 JEFFERSON STATE COMM COLL 011862 NORTHLAND PIONEER COLLEGE 001023 JUDSON COLLEGE 026236 PARADISE VALLEY COMM COLL 001059 LAWSON STATE COMM COLLEGE 001078 PHOENIX COLLEGE 001026 MARION MILITARY INSTITUTE 007266 PIMA COUNTY COMMUNITY COL 001028 MILES COLLEGE 020653 PRESCOTT COLLEGE 001031 NORTHEAST ALABAMA COMM CO 021775 RIO SALADO COMMUNITY COLL 005697 NORTHWEST -
S 3025 State of Rhode Island
2010 -- S 3025 ======= LC02958 ======= STATE OF RHODE ISLAND IN GENERAL ASSEMBLY JANUARY SESSION, A.D. 2010 ____________ S E N A T E R E S O L U T I O N THANKING SENATOR LEONIDAS P. RAPTAKIS FOR HIS EIGHTEEN YEARS OF DEDICATED AND DISTINGUISHED SERVICE TO THE CITIZENS OF RHODE ISLAND AS A MEMBER OF THE RHODE ISLAND HOUSE OF REPRESENTATIVES AND THE RHODE ISLAND SENATE Introduced By: Senators Paiva-Weed, Connors, Algiere, and Blais Date Introduced: June 10, 2010 Referred To: Recommended for Immediate Consideration 1 WHEREAS, The Honorable Leonidas Raptakis was first elected to public office in 1992, 2 representing Coventry, East Greenwich, West Greenwich, and Exeter in the House of 3 Representatives. He pledged to represent his constituents with integrity and honor, to oppose 4 government waste, and to fight diligently on behalf of good government and in support of reform 5 issues such as public access to public information and campaign finance reform. He also swore to 6 protect citizens by strengthening Rhode Island’s drunk driving laws and creating a better business 7 environment for small business owners; and 8 WHEREAS, Senator Raptakis was born on November 18, 1959. He graduated from 9 Coventry High School, the Community College of Rhode Island, and Rhode Island College. He is 10 married to Donna Marie Digidio, is the proud father of Alexandra-Marie and Nicholas Peter, and 11 is the owner of Venus Pizza Restaurant; and 12 WHEREAS, He earned a seat in the Senate in November 1996, and he continued to 13 champion the causes of his District 33 constituents. -
A Potential Gain-Of-Function Variant of SLC9A6 Leads to Endosomal T Alkalinization and Neuronal Atrophy Associated with Christianson Syndrome Alina Iliea, Andy Y.L
Neurobiology of Disease 121 (2019) 187–204 Contents lists available at ScienceDirect Neurobiology of Disease journal homepage: www.elsevier.com/locate/ynbdi A potential gain-of-function variant of SLC9A6 leads to endosomal T alkalinization and neuronal atrophy associated with Christianson Syndrome Alina Iliea, Andy Y.L. Gaob, Annie Bouchera, Jaeok Parkc, Albert M. Berghuisc, ⁎ Mariëtte J.V. Hofferd, Yvonne Hilhorst-Hofsteed, R. Anne McKinneyb, John Orlowskia, a Department of Physiology, McGill University, Montreal, Canada b Department of Pharmacology and Therapeutics, McGill University, Montreal, Canada c Department of Biochemistry, McGill University, Montreal, Canada d Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands ARTICLE INFO ABSTRACT Keywords: Loss-of-function mutations in the recycling endosomal (Na+,K+)/H+ exchanger gene SLC9A6/NHE6 result in Christianson Syndrome overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and X-linked intellectual disability degenerative form of X-linked intellectual disability called Christianson Syndrome (CS). However, knowledge of Alkali cation/proton exchangers –SLC9A6/ the disease heterogeneity of CS is limited. Here, we describe the clinical features and underlying molecular and NHE6 cellular mechanisms associated with a CS patient carrying a de novo missense variant (p.Gly218Arg; G218R) of a Endosomal pH homeostasis conserved residue in its ion translocation domain that results in a potential gain-of-function. The patient Membrane trafficking Neurodegeneration manifested several core symptoms typical of CS, including pronounced cognitive impairment, mutism, epilepsy, ataxia and microcephaly; however, deterioration of motor function often observed after the first decade of life in CS children with total loss of SLC9A6/NHE6 function was not evident. -
EURORDIS Member Associations - February 2018
EURORDIS Member Associations - February 2018 Country Name Website Membership Albania Shoqata e Semundjeve te Rralla - Rare Disease Association www.rda-al.com Associate Member Association ELAMANI pour venir en aide aux malades Algeria Associate Member souffrant de l'anémie héréditaire FUNDACION GEISER - GRUPO DE ENLACE, Argentina www.fundaciongeiser.org Associate Member INVESTIGACION Y SOPORTE ENFERMEDADES RARAS Armenia Doctors and Children Health Care Associate Member Armenia Neurohereditary Diseases Charity Association Associate Member Australia Cystic Fibrosis Australia www.cysticfibrosis.org.au Associate Member Australia Genetic Alliance Australia www.geneticalliance.org.au Associate Member Australia Rare Voices Australia www.rarevoices.org.au Associate Member Austria Angelman Verein Österreich www.angelman.at Full Member Austria Debra International www.debra-international.org Full Member Austria Hand in Hand gegen Tay-Sachs und Sandhoff www.tay-sachs.net Associate Member Austria ICA Österreich www.ica-austria.at Full Member NF Kinder – Verein zur Förderung der Austria www.nfkinder.at Associate Member Neurofibromatoseforschung Österreich Austria Pro Rare Austria, Allianz für seltenen Erkrankungen www.prorare-austria.org Associate Member Austria Pulmonary Hypertension Association Europe www.phaeurope.org Associate Member Selbsthilfegruppe Lungenhochdruck - Austrian Ph Patient Austria www.lungenhochdruck.at Full Member Group Austria Usher Deafblind Forum Austria www.usher-taubblind.at Associate Member Belarussian Organization of patients -
Graduate Catalog 2019–2020
SALVE REGINA UNIVERSITY Graduate Catalog 2019–2020 Salve Regina University A Catholic University in the Mercy Tradition Salve Regina University does not unlawfully discriminate on the basis of age, sex, race, religion, color, national or ethnic origin, or disability in the administration of its admissions policies, educational policies, or financial aid programs. Salve Regina University reserves the right to change without notice any statement in this publication concerning, but not limited to, rules, policies, tuition, fees, faculty, curricula, and courses. This catalog is not a contract or an offer of a contract. Salve Regina University 100 Ochre Point Avenue Newport, RI 02840-4192 144 Metro Center Boulevard Warwick, RI 02886 www.salve.edu Page 1 of 153 TABLE OF CONTENTS Introduction ...................................................................................................................................................................................... 5 History .......................................................................................................................................................................................... 5 Mission of the University .............................................................................................................................................................. 5 Accreditations and Memberships .................................................................................................................................................. 5 Disability Accommodations