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.
Amy Clugston lives in Michigan with her husband and 3 kids. Her oldest daughter Lorna was born with multiple congenital anomalies which would begin an 18-year diagnostic odyssey. In 2014, after many years of genetic testing and being involved in research projects a mutation in the DYRK1A gene was found. With the newly found information, she set out to find others and started a community. Shortly after the mutation was found her story sharing had reached someone at Simons VIP at which time began participating in the program. She had spent a good portion of her daughter’s undiagnosed years being involved with many different organizations. Today she is the founder and president of DYRK1A Syndrome US and plays a lead role internationally through collaborative efforts under DYRK1A Syndrome International Association.
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.
I’m Julie Foxx, wife to Marc and mom to Dylan and Pickles (okay he’s a dog but he acts like a toddler). We live in Cherry Hill, NJ right outside of Philadelphia. Our son Dylan was diagnosed with a microdeletion at 16p11.2 10 years ago. At that time, we discovered the Simon’s Foundation and became part of their study. I am also Head of Business Development at a logistics tech firm out of Philly. In our spare time, we like to go hiking, fishing, traveling (pre-pandemic) and spending time with friends and family.
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.
Haley Oyler is the president and founder of the 501(c)3 volunteer-run nonprofit SETBP1 Society. In 2016, her eldest son was diagnosed with SETBP1 disorder. Finding and uniting parents with SETBP1 disorder and moving the science forward to improve the lives of individuals living with the disorder are her focus. She joined the Simons Searchlight community in 2017 when SETBP1 was added to their list of genes of interest. She has actively engaged with and promoted Simons ever since.
Leah has spent her entire career working in health care administration and never imagined she would find a use for her skills in an entirely different way. From medical secretary to hospital manager and everywhere in between, Leah learned how to manage the needs of large populations within a medical setting. When her son, Ben, was diagnosed with an SCN2A Disorder in 2012, it became abundantly clear how to leverage her 20+ years of experience to help not only her family but hundreds of others. In July of 2019, Leah transitioned from her volunteer position as President of the Foundation Board to a full-time Executive Director role.
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
I am a mother, architect, wife, and lover (not a fighter) – with a thirst for knowledge. My journey has been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life. My mission is to find the parents of other children with a HIVEP2 loss-of-function diagnosis and create a community to advocate for our children. As whole exome sequencing becomes more available, more children will be diagnosed. We need doctors and researchers involved to help us get on the map and provide management and treatment options that allow our children to reach their full potential.
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.
Jennifer Sills is the President and Founder of the CSNK2A1 Foundation. She was inspired to become an advocate for individuals and families affected by Okur-Chung Neurodevelopmental Syndrome (“OCNDS”) following the 2016 diagnosis of her daughter, Juliet (“Jules”). For years, Jennifer and her family searched for a diagnosis to better explain the symptoms plaguing Jules since birth; some symptoms were similar to Autism while others were inexplicably different. With so few available explanations, the search to find ways to help Jules was an isolating and heartrending one. But in 2016, with the help of breakthroughs in the science of genetic testing, Jules was diagnosed with OCNDS, a rare genetic syndrome. At the time, Jennifer only knew of 5 other patients with OCNDS. Jennifer was determined to figure out how to further OCNDS research as well as find and support individuals with OCNDS. In 2018, Jen and her husband Jason launched the CSNK2A1 Foundation. Prior to her work with the CSNK2A1 Foundation, Jennifer worked as an Estate Planning and Tax Attorney, advising local non-profit organizations on planned giving and fundraising. Jennifer is active in her own community and in other nonprofit organizations. She is a Mentor to a first-generation college student for the Pay it Forward Scholarship and Mentoring Program at CSUMB. She serves as an Advisory Board Member for BOK Ranch, a non-profit organization providing therapeutic horseback riding for clients with special needs. She also serves on the West Coast Advisory Board for the Child Mind Institute. Jennifer received a B.A. from the University of California, Berkeley, and her J.D. from Pepperdine University. She currently resides in the San Francisco Bay Area with her husband, Jason, their 2 children, and their mini zoo consisting of 2 cats and 2 dogs.
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.
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.