Community Advisory Committee
Simons Searchlight is a partnership of leading scientists, doctors, and families, determined to accelerate the science of genetic changes related to autism and other neurodevelopmental disorders. As part of this mission, Simons Searchlight works with a Community Advisory Committee (CAC) whose purpose is to advise and guide research and community activities on behalf of all Simons Searchlight participants and gene groups. Read more about the current members below.
When Liz’s daughter, Lucy, was diagnosed with a variation on her GRIN2B gene in 2014, the only information available was a couple of scholarly neurological articles. Frustrated by the lack of resources for families, she vowed to never let that happen to anyone else. In 2017, Liz partnered with a group of GRIN2B parents to start GRIN2B Foundation, the first nonprofit to support GRIN2B families, fund research and promote awareness. Liz is determined to be a voice of positivity in the GRIN2B community. She is very passionate about supporting both the well-being of families and working with the medical community to better understand and treat GRIN2B. In addition to her duties as President, Liz works as a Project Manager for a small marketing firm in Chicago. Prior to that, she spent 9 years both managing budgets and writing for a reality television production company in California. She lives in the Chicago suburbs with her husband and three children.
I have lived in Lexington Kentucky all my life. My son Javan was diagnosed at age 18 months with a very rare genetic condition called Dubowitz Syndrome. He had various developmental delays and very little growth and weight gain. Nine years later it was determined he did not have Dubowitz. Eventually he was found to have the 1q21.1 chromosome micro deletion. I was tested and I also have the deletion. My wife does not. However, at the same time she was diagnosed with a different rare disorder, Ehlors Danlos Syndrome. Very shortly after that, my wife was introduced to Simons VIP from a mother whose child also had the deletion. My son and I have been very involved with various testing through Simons since 2012. Because of the wonderful help that my son received from our public school system, I left a job I had for 17 years so that I could work with differently abled students. I have been a special education paraeducator for nine years and I also do Community Living Supports work with differently abled people through Lord’s Legacy Life Ministries.
Stuart Charney, co-founder and President of SixDegrees Health Care Consulting, has established a career identifying and leveraging shared interests among diverse external constituencies to help commercial and not-for-profit organizations achieve their strategic goals and objectives. A business and public affairs executive with a background in law, pharmacy, lobbying and the biopharmaceutical industry, Stu is recognized as an insightful leader, problem solver, consensus builder and forceful advocate with deep roots across the global health care ecosystem. Stu is passionate about ensuring individuals with intellectual/developmental disabilities and mental health illnesses have access to critical services and support that enable them to live meaningful lives within their communities. Stu’s adult son was diagnosed with Autism at age three and has since been diagnosed with several genetic anomalies of unclear clinical significance.
Jeff D’Angelo is the Proud father of JJ. Since day one of his son’s birth he has been committed to giving him the best possible chance to succeed. After receiving a diagnosis of CHAMP1 It’s been his life’s mission to fuel research in hopes for a cure and of a better life. In addition to co-founding the CHAMP1 Research Foundation, Jeff has served as a teacher, basketball coach and special needs ministry leader at his church. Jeff is a loving father and husband who is motivated daily by his son to do all he can to advocate, spread awareness, and further research.
Sarah Glass, PhD is the Chief Development Officer at n-Lorem Foundation. Sarah received her graduate degree in Molecular Genetics and has over 20 years of experience in clinical development and research across academia, pharmaceutical companies, and CROs. Sarah has experience as an accomplished research geneticist, rare disease drug developer, and clinical trialist. She is most passionate about forging key strategic partnerships across rare disease sectors and driving efficiencies to decrease patient/ caregiver burden in clinical research.
Interestingly, amidst her career focused on genetics, precision medicine and rare diseases, Sarah became the parent of a child with severe health issues. As many are all too familiar, a 3+ year diagnostic odyssey ended with a diagnosis of DYRK1A syndrome for her son, Ethan. She views the urgency felt by a rare parent combined with the professional expertise and training as an obligation to aggressively drive the field of rare disease therapeutics forward- for her son and the broader rare disease community. Sarah translates this urgency into n-Lorem’s paradigm shifting non-profit platform solution for nano-rare diseases (n<30). Sarah is the chair of the DYRK1A Medical and Scientific advisory board and is engaged in many rare disease organizations to ensure collaboration in reaching our common goals. She lives with her husband and two children in Durham, North Carolina.
Alicia Halhed had a variety of childhood health conditions, many of which have now subsided as an adult. In an attempt to identify the cause of her early childhood health challenges, a genetic screening completed as a preteen identified a 16p11.2 deletion. This diagnosis got Alicia involved in the Simons VIP research study participant as a teenager, and she continues to participate today. Alicia is currently a graduate student in Ontario, Canada. Her graduate research investigates the role of the environment on microbiomes associated with non-human hosts, such as North American red squirrels and Canada jays.
Aaron J Harding, MS is a retired naval officer and clinical laboratory scientist professional with a son diagnosed with SynGAP1 Syndrome in 2015. He received his masters from George Washington University in immunohematology. An active leader within the SynGAP1 community since 2016, he currently is Board Co-Chair of the SynGAP Research Fund, which is leading in funding research and patient engagement. Previously, he served in several positions within Bridge the Gap. He has several publications in the Clinical Laboratory Sciences and Armed Services Blood Program. He and his wife, Monica, additionally have two daughters and reside in San Diego, CA.
Father to a boy affected by the TRIP12-related neurodevelopmental disorder. Stefan strongly believes that advancements in science and society are the keys to make meaningful improvements for individuals and families affected by neurodevelopmental disorders. Stefan received his PhD in the field of protein biochemistry from the University of Heidelberg and has been working for nearly 20 years in Biotech/Pharma drug discovery, holding scientist, managerial and executive positions. It was in 2017 when life decided to move Stefan’s private and professional worlds much closer. The genetic results of his youngest son revealed that a de novo mutation in the TRIP12 gene was the cause for the previously diagnosed autism spectrum disorder and developmental delay. TRIP12 belongs to a machinery of the cell that Stefan has been intensively studying on several occasions. Since then, Stefan has been driving the build-up of a global community of families sharing the TRIP12-related genetic diagnosis and connecting the group with the Simons Searchlight program in 2019. The family of 5 loves the outdoors and lives in Darmstadt, Germany.
Azra Jaferi, PhD, spent many years in neuroscience research, exploring brain circuits underlying chronic stress responses and anxiety, as well as brain receptor systems mediating the interaction between stress and drug use. Azra currently works as a scientific publications expert in the biomedical, health, and life sciences. She has both professional and personal interests in the burgeoning scientific literature on genetic contributions to neurodevelopmental conditions and admires the large-scale efforts that Simons Searchlight has been able to make in this area. Azra lives in the Greater New York area with her husband and two children, the younger of whom has ASD.
I’ve always been interested in the science of genetics and have followed the ongoing debate over whether and to what extend human traits such as personality, intelligence, longevity, and health are determined by our genes, our prenatal and postnatal environment, and other undermined factors. I practiced law for eight years in Nevada before moving to Alaska. My first child, Joshua, was born with several serious health problems including a very tiny left eye (microphthalmia) and a heart condition. Other issues arose during his first year along with developmental delays. Joshua was diagnosed with 1Q21.1 microduplication at nine months and with autism at age four. His father, half-siblings, and little sister also tested positive for the same duplication; however, Joshua is the only one who had any severe “negative” symptoms of the duplication. Despite this, Joshua taught himself to read age three, and began understanding math and large numbers soon afterwards. He also has musical talent. For me, the fact that each sibling has the same microduplication, from the same parent, and each one shows varying levels of symptoms, with a few siblings showing high intelligence and innate talents, highlights the need for more research into the science of genetics.
Tony King lives in Delaware with his wife and two kids. He is a graduate of the University of South Carolina where he studied Biology/Genetics. He spent seven years in the US Army as an enlisted Combat Medic and Infantry Officer. He has spent the last fourteen years working for the Federal Bureau of Investigation in multiple cities as a Special Agent and Supervisor. After a nine-year fight with doctors and insurance companies his oldest son was finally diagnosed in 2017 with CTNNB1 Syndrome, a rare genetic disease, with only approximately 200 known cases worldwide. Shortly after this diagnosis the King Family joined the Simon’s Foundation Study. Additionally Tony works with charitable organizations that raise money for research of treatments for CTNNB1 syndrome. In his spare time Tony enjoys functional fitness and nutrition and is an avid believer in using both to improve his son’s condition.
David Peles is a Ph.D. student at the Sagol Department of Neurobiological, University of Haifa, Israel. His research is focused on promoting treatments for ameliorating the neurological aspects of 7q11.23 Duplication Syndrome (dup7) by investigating cell models (iPSC and patient induced neurons) and mice models. He is the father of Ofir who was diagnosed with dup7. David holds a BA and MSc in Computer Science from The Open University of Israel and from the Technion-Israel Institute of Technology accordingly. Before starting his Ph.D. studies, David worked for many years in the field of Computer Vision and Machine Learning. David joined Simons Searchlight Community Advisory Committee in 2020. Email: davidpelz at gmail.com
Kris is rare disease advocate and health professional with Masters Degrees in both Health Science and Wellness and a background in nursing. After a 14yr odyssey Kris’s family received the diagnosis for their son, Will, who has SCN2A. Kris is a co-founder of Genetic Epilepsy Team Australia, founder of SCN2A Australia and has previously served as a board member in the disability sector. Kris is passionate about empowering consumers to have a voice in their care and outcomes. In 2020, Kris was appointed as the Consumer Engagement and Advocacy Manager for the Kids to Adults Alliance, an Australian network of researchers, clinicians and advocates. Kris consults to hospital boards, industry and community groups, ensuring quality consumer engagement across the health and disability sectors.
Taruna received her Masters Degree in Mechanical Engineering from Columbia University in the City of New York. Previously she worked in Global Structured Products at various investment banks. Her daughter Alya has PACS1 Syndrome.
Charlene is the Chief Executive Officer of RARE-X. She has spent her career building organizations at the intersection of data, technology, and life sciences. Charlene was previously Chief Business Officer at Fabric Genomics and held executive roles at enterprise software and genomics companies, including Oracle and Doubletwist. She started her career in neuroscience research at Roche. When Charlene’s daughter was diagnosed with a rare genetic disease, she co-founded the STXBP1 Foundation. She is committed to finding a cure for her daughter’s disorder. Charlene’s unplanned connection between her personal life and profession has helped push forward the search for a cure for her daughter and kids like her and given her work deeper meaning. She holds a B.A. in Human Biology from Stanford University and an M.B.A. from the Haas School of Business at U.C. Berkeley.
Charles has spent more than 26 years working on the human genome on the Wellcome Genome Campus near Cambridge UK, which is where he did his Ph.D. He currently works for Congenica, a digital health company on the same campus where he is the company’s Patient Advocacy and Engagement Lead. Charles has two young children, Imogen 8, and Jasper 2, with severe neurological disorders. Imogen also had infantile spasms when she was 8 months old. Charles, his wife, and two children have had extensive genome investigations through the UK 100,000 Genomes Project and Cambridge University’s Next Generation Children Study. As yet, nothing has been found to explain his children’s challenges.
Gina Tan is a co-founder of Cure CLCN4, a charity dedicated to helping further medical research into CLCN4, a gene associated with neurodevelopmental delays, epilepsy and autism. She is a mother to two daughters, the younger of whom has a variant of CLCN4. Professionally she is a medical doctor, sub-specialising in Rheumatology. She lives in London, UK.
Ana Garcia Vargas
Ana was born in Costa Rica and moved to the United States in 2009. She studied law but has always worked as a Medical Interpreter. I live with my husband Darryl, my daughter Fiona, two four-legged kids and a grumpy hedgehog. Fiona was born in 2015. When she was three months old, she started having seizures. After lots of testing and not being able to find the cause of the seizures, her geneticist decided to do genome sequencing. About a year after she was born, she was diagnosed with the PPP2R5D mutation. We were sent home with a copy of our results and a referral to two medical articles and a Facebook group. This group has now become our second family, and through them, we found Jordan’s Guardian Angels (foundation for PPP2R5D research) and were able to join Simon’s Searchlight. I work as a Medical Interpreter, but I am also a mother, a therapist, an advocate, a student, a teacher. I want to help my daughter and our PPP kids and adults as much as I can and in any way I can. I am glad we have the chance to be a part of all this groundbreaking research and I am eager to learn more, so I can help more and create more awareness within our community and also to the rest of the world.
Caroline is mother of Alex diagnosed in 2018 with a previously undiagnosed progressive neurodegenerative disorder caused by mutation of the IRF2BPL gene. This very rare recently discovered disease is also known as neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDEMSS). It was a diagnosis that ended a long 12 year diagnostic journey for the Yiu family. While relentlessly seeking answers for her son’s constantly shifting illness, she created the Community of Undiagnosed Rare and Extraordinary (CURE), formerly the San Diego Undiagnosed Family Support Group to connect families lacking a diagnosis for their child, empowering them with local resources to forge ahead in their diagnostic odyssey. She strives to bring awareness of NEDAMSS to the public, medical and research communities and continues to advocate for those families still seeking a diagnosis.
Vanessa Shealy Younger
Vanessa is the Director of Communications at the Children’s Tumor Foundation, a national nonprofit organization dedicated to finding treatments for neurofibromatosis (NF). Vanessa has a 12-year-old son who received an autism diagnosis nearly ten years ago. Together they joined the Simons Searchlight community in 2019 when genetic testing revealed that they each have a genetic variant in the SCN1A gene, which along with NF1, is included on the Searchlight list of genes of interest. Vanessa is personally and professionally dedicated to furthering research into the genetic causes of rare disorders, and is thankful to all of the members of this study who are looking for solutions and a greater understanding of so many important genetic differences.