About Us
Our Mission
ADCY5.org supports families affected by the ADCY5 gene variant, clinicians treating patients, and researchers pursuing treatments or a cure by collaborating or funding efforts.
We search to identify anyone affected by, or interested in, the ADCY5 variant. We engage with others interested in solving our puzzle. We collaborate and share information to move science further. We believe in not reinventing the wheel by sharing data and working as a team.
Our Story
This organization was born simply out of the love, research and community created by a small family of three, looking for answers. Gay and Steve Grossman’s daughter, Lilly, spent years living with ADCY5‐related movement disorder (ADCY5‐RMD) before finally receiving a diagnosis. Since then, they’ve been trailblazers for this rare disease, from driving and funding research, to bringing together families around the world, to connecting the dots between everything from genetic testing to caregiver support. This family’s initiative to find answers for their daughter has led to international visibility, scientific advancement and impact for hundreds of people living with ADCY5‐related movement disorder (ADCY5‐RMD).
Scientific Advisory Board
Matt Might, Ph.D.
Dr. Might 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.
Wendy Raskind, M.D., Ph.D.
Dr. Raskind 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.
Emmanuel Roze, M.D., Ph.D.
Dr. Roze is a professor of Neurology at Sorbonne University in Paris. He is consultant neurologist at the movement disorders clinic with a special expertise in children movement disorders, and as scientific researcher at Paris Brain 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 also works on experimental therapeutics in preclinical models and patients with movement disorders. He published about 250 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 and the Breughel price 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.
Nicholas Schork, Ph.D.
Dr. Schork 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.
Fred Wu M.D., Ph.D.
Dr. Wu 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.
Emma Maly
My Name is Emma Maly and I am the proud mother of a beautiful 5 year old girl, Grace with ADCY5-related dyskinesia. I have a Bachelor of Nursing graduating from the University of Technology Sydney in 1998. I have worked in Acute Cardiology and Oncology at both Royal North Shore Hospital, Sydney Australia and the Mater Hospital Sydney Australia. Following this I have worked in the Pharmaceutical Industry for the following companies Lundbeck Australia, as a Field Education Specialist in the area of psychiatry medications and Mayne Pharmaceuticals as a Specialist Sales Representative in their Oncology team. Also at Amgen Australia, a Biotechnology company in the following roles as a Specialist Representative in Oncology, Field Education-Training Specialist and Product Specialist. I have also worked casually in retail in between having my three children. My most recent role is a fulltime carer for Grace, helping her to reach her fullest potential whilst she navigates through life living with ADCY5-related dyskinesia, as well as caring for her two older brothers . I am very excited to be part of the Scientific Advisory Board for the foundation, ADCY5.org and the work they are doing to make a difference in and improve the lives of those living with ADCY5-related dyskinesia
Marla Tobia
Marla is the parent of a teenage daughter, Laura with ADCY5-related dyskinesia. Marla graduated from Eastern Kentucky University with a BSN in 1998 and worked as an RN for the University of Kentucky in the Neonatal Intensive Care Unit. She obtained a Masters of Science in Nursing from the University of Louisville in 2003 and now works as a Neonatal Nurse Practitioner at Winnie Palmer Hospital for Women and Babies, one of the largest Neonatal Intensive Care Units in the world. Marla formerly worked as a NNP for the University of Kentucky, St. Vincent Women’s Hospital and Johns Hopkins All Children’s Hospital. She currently sits on multiple hospital committees and her special interests include neonatal intestinal surgical patients, congenital diaphragmatic hernias and pulmonary hypertension in infants. Since Laura was diagnosed in 2013, Marla and her family have been dedicated to finding the best treatment options available for Laura. Marla, her husband son, and Laura live in Florida.
Board of Directors
Dan Bradbury
Chairman
Dan 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.
Uma Lakshmipathy, Ph.D.
Scientific Advisor
Uma is Director of R&D in Science and Technology and Head of Patheon Translation Services supporting Advanced Therapies in Pharma Services Group at Thermo Fisher Scientific. Prior to this, her work was focused on tools and technologies for stem cells and characterization platforms for cell therapies. Her work has resulted in the development of novel cell engineering platform to modify stem cells, robust reprogramming systems to generate induced pluripotent stem cells and comprehensive characterization tools for cell therapy applications. She has authored several scientific publications, books, patents and currently serves as member of many Committees and Advisory Boards. Uma has a doctoral degree in Molecular Biophysics from the Center for Cellular and Molecular Biology in India and postdoctoral experience in DNA double strand break repair from University of Minnesota Medical School. As a junior faculty at the Stem Cell Institute, University of Minnesota, her work involved developing ex vivo gene repair systems that enable correction of single gene mutations in adult stem cells.
Steve Grossman
Co-Founder
Steve 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).
Partner Organizations
Support Our Work
Support our work through a donation or sharing your experience with ADCY5‐related movement disorder (ADCY5‐RMD).