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.
Lacey Akins has been a Marketing Consultant for over 10 years and received her MBA from the University of Florida. She lives in Atascadero, California with her husband of 20+ years, Jeff, her two sons, Derek and Dylan, and her labradoodle, Violet Olivia. Lacey’s son Dylan, aka “Pickles” was diagnosed with MED13L Syndrome in 2018. Shortly after the diagnosis, Lacey started volunteering for the Foundation. In the fall of 2022, she took a position on the Board of Trustees of the MED13L Foundation. The Foundation is working hard to support families and find treatments/cure for MED13L Syndrome.
My name is Kathy Bergwerk. I grew up in LA, Boston and NY. I met my husband Ari (a pediatric gastroenterologist) and did an ophthalmology residency in NY. After our 1st 3 children, we moved back to LA to be near my parents, where we had 3 more children. After working as an ophthalmic geneticist at UCLA, we moved to Israel where we had 2 more children. Hila our daughter with SETBP1 is our 8th child. We now have 2 grandchildren as well. Parenting and working take up most of my time, but otherwise, I have a passion for women’s health and supporting caregivers. In the late hours of the night, I dream of finding a way to teach Hila to read in English or Hebrew, love reading, walking, and doing glass mosaics( always with eye protection). I look forward to helping in whatever way possible to expand our knowledge base and to teach others not just awareness but acceptance.
Cecilia is a physician from Argentina, who did her training in Infectious Diseases in immunocompromised patients in the US. After working as a treating physician of patients with onco hematological diseases and stem cell transplantation for 20 years, she started working at a CRO and was transferred from Buenos Aires, Argentina to Durham, North Carolina in the US as Medical Director in December 2020. Her only son Felipe is 15 years old and he has recently been diagnosed with di novo TAOK1 related disorder after a long history of multiple medical consultations, speech delays, and learning difficulties in Argentina. Cecilia has registered her son in the online study of people who have genetic changes and features of autism: Simons searchlight. She also participates in the Facebook group for TAOK1 related disorders. She understands the challenges of kids with special needs when, on the top of their difficulties, add the language barrier. She also understands that research plus communication to the community are the only way to get around these challenges.
Sarah DiSalvatore is the mother of two daughters, the younger who was diagnosed with DDX3X Syndrome when she was six years old. This rare genetic mutation is associated with intellectual disabilities, low muscle tone, neurological disorders, autism, ADHD and developmental delays. DDX3X occurs primarily in females because it is located on the X chromosome. This mutation was discovered in 2014 and to date, approximately 600 individuals have been diagnosed with DDX3X. Sarah is a member of the Leadership Advisory Board for the DDX3X Foundation and actively advocates for rare disease awareness, genetic testing and gene therapy development. Professionally, Sarah has over 25 years of experience in research, drug development and operations within the pharmaceutical and biotech industry. Currently, Sarah is the Vice President of Clinical Operations at AGTC, a biotechnology company focused on gene therapy for rare inherited retinal diseases. Given Sarah’s daughter’s diagnosis, she remains committed to utilize her scientific background, professional network and passion to find a cure for this disease through gene therapy discoveries. Sarah holds a Masters in Public Health in Epidemiology and a BS in Biology. Sarah lives with her children and golden doodle in Colts Neck, New Jersey.
Rebecca’s daughter Kate died of Sudden Unexplained Death in Epilepsy in 2019 at age 30. In 2020, a reanalysis of genetic tests conducted in 2017 revealed Kate had CSNK2B Neurodevelopmental Disorder (also known as POBINDS). This ultra-rare condition, first described in 2017, has been documented in fewer than 100 people worldwide. Kate was one of the longest-living patients and the first known to have died of POBINDS-related complications.
Rebecca has a PhD in botany from the University of Georgia. Before retirement, she conducted research in the genetics of rare plants and taught introductory biology at Butler University in Indianapolis, IN, USA. She writes summaries of research articles for the POBINDS community and partnered with the Simons Searchlight team on the summary of the condition on the Searchlight website.
Dina Gerber has always been passionate about helping young children find their potential. While born and raised in North Carolina she went to graduate school in Chicago, Illinois to get a dual degree in child development and social work. Since then she has been a social worker in NC specializing in early childhood mental health for over 14 years. About 4 years ago Dina birthed a child, Evie, whose unique characteristics have helped meld the personal and professional for Dina in a variety of interesting, fun, tiring, confusing, complicated and rewarding ways. Because of the recent growth of genetic research, Evie was diagnosed with a genetic condition by the age of 4 that helps explain some of her symptoms and current challenges. This diagnosis has helped answer the “Why?” question that was hard not to constantly ask and wonder about. Having an answer has opened up energy and time to focus on supporting Evie’s development and help her build a strong, supportive, open-hearted community that celebrates her for her unique presence and abilities.
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.
Hi, my name is Katelynn. I’m the parent & primary caregiver of an amazing little boy with additional medical needs. I’m also active in the local inclusive athletics community & a fierce disability advocate. In my spare time, I like to curl up with a good book, or one of my unique plushies & spend time with my family.
After a career in the IT field on the hardware and software side of Network Management, Stacey Hanna moved to the customer service Side after the welcome interruption of extended medical leave to welcome Natalie, her first daughter into the world. Natalie was a 33 week baby weighing 2 pounds 13 3/4 ounces. After a second child, a dissolved marriage, a remarriage that presented a third daughter at 5 years old. Stacey became a full-time housewife for many years and was able to home school her children. Natalie was diagnosed with Autism at 12 years old. She had already been diagnosed with a 16 P microdeletion. This put the slow IUGR, and all complications of her pregnancy into perspective. While home schooling and trying to boost Natalie’s reading material through Comic Books, Stacey started volunteering at local Comic Cons. Stacey started bringing her girls to the events as volunteers while they were young teenagers. This new group of friends has been more accepting of Natalie for herself and boosted her social and business skills. Stacey is currently the Chief Research Officer for a Houston-based talent agency, and travels within the USA and internationally for many major events now that her children are all adults.
Dr. Alain Lartigue came to Simons Searchlight in 2021. His professional background and research interests are in Pain and Anesthesiology. In 2017 his second son Marc was born, and two years later he was diagnosed with a rare genetic disorder: Rubinstein-Taybi Type II (RTS 2). Alain is the moderator of several online RTS and RTS 2 groups and his efforts are centered around collaborating with RTS experts, increasing research in RTS and conducting his own RTS research. To this end, Alain collaborates with UCSF STAR Center for Autism Spectrum Disorders and Neurodevelopmental Disorders and Cincinnati’s Children’s Rubinstein-Taybi Program by helping connect researchers and RTS families.
Alexandra Lee is a senior undergraduate at Brown University in their Program in Liberal Medical Education (PLME) program, Brown’s combined BS/MD program. She studies Anthropology and Human Biology, and is passionate about the social side of health and medicine. Her younger sister’s diagnosis of Okur-Chung Neurodevelopmental Syndrome (OCNDS) has motivated her passion for rare diseases, as can be seen by her involvement in research with Dr. Okur and Dr.Chung, as well as serving on the CAC. Her other research projects include a study on preeclampsia salivary markers and the ethics live donor transplantation.
Marissa is a speech-language pathologist and researcher at the Geisinger Autism & Developmental Medicine Institute. Her clinical specialty is augmentative & alternative communication for children with limited speech, while her research interests focus on the genetic architecture of motor speech disorders and the characterization of speech and language skills among children with rare genetic conditions. Although she has worked with children with neurodevelopmental disorders for many years, her perspective broadened when her son was diagnosed in 2021 with a NRXN1/2p16.3 deletion. She strives to support and advocate for individuals with rare genetic disorders by strengthening the bridge between researchers, clinicians, and families. She lives in Lewisburg, PA with her husband and three children.
Gilianne Nelissen’s oldest daughter Charlotte was diagnosed in 2015 with Grin2B related neurodevelopmental disorder. It was the end of an 8 year long search for a diagnosis but unfortunately also the start of a new search for treatment options and for the answers the doctors were unable to provide. Having struggled herself for years to find these answers and subsequent treatment options for her daughter, Gilianne has made it her goal to provide support to other Grin parents and to help them find the information and answers she so sorely lacked. Gilianne is a co founder of Grin(2B) Europe and has her own Dutch patient organisation Grin in Nederland.
Gilianne lives in the Netherlands near Amsterdam with her husband and three children. She has worked for 20 years as a tax lawyer, specializing in expatriate taxation and emigration law. However she now dedicates her time to Charlotte and her siblings and to the Dutch and international Grin Community.
Laura Palmer is a National Board Certified English Language Arts teacher. She has been teaching middle- and high-school Language Arts for 20 years; she currently teaches 8th-grade Language Arts. Laura earned her Bachelor’s degree in Middle Childhood Education and a Master’s degree in Writing, both from Miami University of Ohio. She lives in the Cincinnati, Ohio suburbs with her husband and three children: Tessa, Morgan, and Nolan. Her youngest son, Nolan, was diagnosed with DLG4-related synaptopathy (or SHINE Syndrome) in October of 2017. An active leader in the SHINE Syndrome community, Laura helped mobilize a parent group to found the SHINE Syndrome Foundation in late 2021. Laura is passionate about building family support and community within the DLG4 population, clear and intentional communication, connecting with other rare disease leaders, and collaborating with researchers.
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.
Cheryl Richt is a co-founder and board member of the International FOXP1 Foundation. She holds a Masters Degree in Vocal Performance from the University of Illinois, Champaign-Urbana and Graduate Performance Diploma from the Johns Hopkins – Peabody Conservatory of Music. Cheryl’s youngest son was diagnosed with FOXP1 Syndrome at the age of 16 after many years of searching for answers to explain significant developmental disability. Cheryl was active with the Autism Society of Iowa Board of Directors and Co-Founder of the Flint Hills Summer Fun Camp for children with developmental disabilities in northeast Kansas. She has also helped establish autism parent support groups in Iowa and Kansas. Cheryl has been on the Voice Faculty at Kansas State University since 2010.
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.
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.
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.