ADCY5 Gene Mutation Support and Research Organization - ADCY5 International Patient Registry
Gay Grossman, a co-founder of ADCY5.org and Patient Advocate, has a proven track record of almost two decades successfully obtaining medical and educational accommodations, procuring medical care & equipment, while leveraging health insurance coverage. She successfully advocates for special needs children, bringing extensive experience to families of disabled children to obtain services, while teaching them to advocate on their own behalf. Gay speaks publicly on the subject of living with Rare Disease addressing audiences at precision medicine conferences, patient advocacy conferences, and graduate school seminars. Prior to raising her daughter who has a Rare Disease, Gay worked with Glaxo Inc. as a Senior Sales Representative, District and National Sales Trainer, and represented Glaxo Inc. on their national Convention Team. Gay graduated from Ohio Wesleyan University majoring in English and Economics.
Chairman of the Board
Dan Bradbury is a Life Sciences Executive with over 30 years of experience creating and implementing strategies that transform businesses, bring novel medicines to market and maximize shareholder value. He is the Managing Member of BioBrit, LLC, a Life Sciences Consulting and Investment Firm. Dan is the former President, Chief Executive Officer and Director of Amylin Pharmaceuticals, a biopharmaceutical company based in San Diego, CA, focused on metabolic diseases. During his 18-year tenure at Amylin, the company launched three first-in-class medicines, including the first once-a-week therapy to treat diabetes and was listed on the Nasdaq 100. He served as Amylin’s Chief Executive Officer from March 2007 until its acquisition by Bristol-Myers Squibb Company in August 2012. Before joining Amylin, Dan worked in marketing and sales roles for ten years at SmithKline Beecham Pharmaceuticals. He serves on the board of directors of Biocon Limited (NSE: BIOCON), Corcept Therapeutics (NASDAQ: CORT), Geron Corporation (NASDAQ: GERN), Illumina, Inc. (NASDAQ: ILMN), Syngene International Limited (NSE: SYNGENE), Castle Biosciences, Inc. (Private), DiaVacs, Inc. (Private), Freedom Meditech, Inc. (Private), Liquid Grids, Inc. (Private), Microdermis, Inc. (Private), Profil Institute for Clinical Research, Inc. (Private), Renova Therapeutics (Private), Sensulin, Inc. (Private) and Troia Therapeutics, Inc. (Private). He also serves on the board of the Riecken Community Libraries, the board of trustees of the Keck Graduate Institute, the Investor Growth Capital Advisory Board, the BioMed Ventures Advisory Committee and the University of California San Diego’s Rady School of Management's Advisory Council. Dan received a Bachelor of Pharmacy from Nottingham University and a Diploma in Management Studies from Harrow and Ealing Colleges of Higher Education in the United Kingdom.
Steve Grossman is co-founder of ADCY5.org and advocates for patient-driven rare disease efforts and collaboration between rare disease organizations. He is especially interested in patient control of healthcare data and samples to drive treatments, to drive research, and to foster open collaboration between clinicians and researchers. He advocates low-cost strategies to advance under-funded rare disease efforts by leveraging disruptive technologies. He was active in the United Mitochondrial Disease Foundation’s IT steering group, its largest yearly fundraiser, and as a patient liaison (www.umdf.org). He also volunteers with the Brave Cort Pediatric Brain Cancer Foundation(www.bravecort.com) .
Steve’s professional background includes senior level positions at companies in laboratory equipment, health information technology, pharmacy management software, and aerospace and defense software. He graduated from Ohio Wesleyan University with a degree in Economics.
Scientific Advisory Board
Betsy Grossman is General Counsel of The Public Interest Network, which includes the state Public Interest Research Groups, U.S. PIRG, state environmental groups in 29 states, Environment America, and other organizations. Previously, Betsy worked for the law firm of Caplin & Drysdale in Washington, DC, counseling nonprofit clients, including charities, advocacy organizations, grantmaking foundations, and political organizations, on a range of tax-exempt, political, and corporate governance issues. She also served as a law clerk for the Hon. Peter W. Hall of the U.S. Court of Appeals for the Second Circuit. Prior to attending law school, Betsy managed a non-profit program that manufactured low-cost, high-quality adaptive equipment for children with special needs and also did non-profit organizational development work. Betsy is a graduate of Harvard Law School and Oberlin College.
Lisa M. Betyar, CPA obtained both her undergraduate and graduate education degrees from the University of San Diego. Lisa dedicated five years as a Tax Consultant, from 1988 to 1993, with the international CPA firm, Deloitte. In 1993, Lisa joined Mark Lindsay and Stephen Brownell to become the third partner of Lindsay & Brownell, LLP.
Lisa donates her time and expertise by being involved in multiple organizations throughout San Diego County. For many years, Lisa has donated her time to the St. Germaine's Children's Charity, a La Jolla based non-profit organization for child abuse prevention, serving as treasurer for 10 years, and currently is a member. Presently, she is a member of the Children's Hospital Trusts and Estate Committee. She serves as President of Las Patronas and was previously CFO for two years; a charitable organization in La Jolla. Lisa is a director and board member of the Seacoast Commerce Bank. Currently Lisa is the chair of the San Diego Yacht Club Finance. Additionally, Lisa is a member of the board of directors for the Walden Family Services Organization. Previously, Lisa volunteered as the sorority chapter advisor to Gamma Phi Beta at the University of San Diego.
Nicholas Schork, Ph.D., is Professor and Director, Human Biology, at the J. Craig Venter Institute (JCVI), Professor at the Translational Genomics Research Institute (TGen) in Phoenix and an Adjunct Professor at the University of California, San Diego. Prior to his position at the JCVI, Dr. Schork was a Professor, Molecular and Experimental Medicine, at The Scripps Research Institute (TSRI) and Director of Bioinformatics and Biostatistics for the Scripps Translational Science Institute (STSI). Dr. Schork has also held faculty appointments at Case Western Reserve University (CWRU) and Harvard University. Between 1999 and 2000 Dr. Schork took a leave of absence from CWRU to conduct research as the Vice President of Statistical Genomics at the French Biotechnology company, Genset, where he helped guide efforts to construct the first high-density map of the human genome. He has published over 500 articles in the area of the genetic dissection of complex phenotypes. These articles include both methodological and applied studies. He also has a long history of collaborative and consortium-related research in which he has contributed analysis methodology and applied data analysis expertise. Dr. Schork has a number of patents associated with genetic analysis methodology, been involved with more than 10 start-up companies, and has mentored over 75 students and post-doctoral fellows.
Board of Directors
Matt Might, Ph.D., has a passion for accelerating the promise of precision medicine for patients since 2012, when his son was diagnosed as the first known case of NGLY1 deficiency. Dr. Might is currently a Visiting Associate Professor in Biomedical Informatics at the Harvard Medical School. His interests there include social-media-driven case-finding for rare disease; systematizing delivery of care in precision medicine; systems pharmacology; and in silica drug discovery. He is actively engaged with White House and NIH leadership on the Precision Medicine Initiative, serving as an ardent advocate for the clinical side of precision medicine. Dr. Might is also an Associate Professor in Computer Science at the University of Utah, with research interests in programming languages, cybersecurity and scientific computing.
Emmanuel Roze, M.D., Ph.D., is a professor of Neurology at the Pierre et Marie Curie University in Paris. He is working as a clinician at the movement disorders clinic, and as scientific researcher at the Brain and Spine institute, within the Salpêtrière Hospital (Paris). His main research interests are neurodevelopmental disorders of the motor system and particularly dystonia and mirror movements. He studies clinical aspects, genetic causes and neurophysiological mechanisms and recently conducted the first randomized controlled trial demonstrating the effectiveness of a drug in myoclonus-dystonia, a rare genetic disorder. He published about 140 papers, mostly on these topics. As a teacher at the university, he has implemented an innovative simulation-based medical education program using role-play to teach neurology. In the past, he received the award of the French neurological society for his works on dystonia and the “pilot project” award of the dystonia coalition (supported by the NIH/USA) for a project studying the role of the cerebellum in focal dystonia.
Wendy Raskind, M.D., Ph.D., is an Internist/Medical Geneticist. She graduated from Brown University with a BA in Mathematics, worked as a computer systems analyst/programmer at Cornell University Medical School and the Department of Biological Sciences at Columbia University, and later obtained her MD and PhD degrees at the University of Washington. Following a residency in Internal Medicine and postdoctoral fellowship in Medical Genetics, she joined the faculty at the University of Washington, where she is now Professor of Medicine, Professor of Psychiatry and Behavioral Sciences (Joint) and Adjunct Professor of Genome Sciences. She sees patients and supervises residents and medical students in the Genetic Medicine clinic at the University of Washington Medical Center. A long-time focus of research in her laboratory has been to identify the genes responsible for neurogenetic disorders and to study how mutations alter the function of the genes. In collaboration with Dr. Thomas Bird, who saw the first patients with what we now call ADCY5-related dyskinesia in 1976 and 1978, the group described one form of the disease in two multigenerational families in 2001, localized the gene in 2009, and identified a mutation in ADCY5 in 2012. Dr. Raskind’s laboratory continues to study the spectrum of disease in ADCY5 mutation carriers and the effects of the mutations on ADCY5 activity. In addition to ADCY5-related dyskinesia, her group identified the genes that cause X-linked Sideroblastic Anemia and Ataxia, X-linked Thrombocytopenia with Thalassemia, Spinocerebellar Ataxia Type 14, X-linked Parkinsonism with Spasticity, and Ataxia-Pancytopenia Syndrome.
Fred Wu M.D., Ph.D. is a medical director of hospital medicine and past Chief of Medicine at Scripps Mercy Hospital in San Diego. After graduating from Yale University, he worked as a technician at Geron corporation for two years (developing a commercial test for telomerase, being granted a patent for telomerase RNA testing, and working on the successful cloning of the human telomerase gene) before attending UC Davis for his MD, PhD. He started his residency in internal medicine at Scripps Mercy Hospital and after flirting with the idea of a career in academic medicine after completion, he took a newly created position as a hospitalist at Mercy as it appealed to his broad interests. Five years later, he formed a new group of hospital physicians whose goal was to provide the best hospital care for the underserved population of San Diego. His residency training program will soon be merging with his current hospitalist group and he will be tasked with herding 80 physicians to move in the same direction.
Email: info@ADCY5.ORG +1.858.882.7280
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