Community Advisory Committee
Simons Searchlight is a partnership of leading scientists, doctors, patient advocacy leaders, clinicians, participants, and families, determined to accelerate science and improve lives for people with rare genetic 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 genetic communities. Read more about the current members below.
Christie Abercrombie is a dedicated individual with a passion for making a difference in the lives of others. With a degree in psychology and 10 years of pharmaceutical sales, she brings a strong scientific background to her philanthropic pursuits. Christie has spent many years actively engaged in charity service, demonstrating a deep commitment to helping her state change archaic laws.
In addition to her academic achievements, Christie has gained valuable experience working with children with many different abilities. As the current children’s director at her church, Christie is committed to providing compassionate care and support to all children, including those facing unique challenges.
With a heart full of compassion and a mind grounded in scientific knowledge, Christie continues to make a meaningful impact in both the scientific community and the realm of charitable service, embodying the spirit of service in her life’s work.
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.
April Canter is a federal strategy director for the American Association for Retired Persons (AARP), April engages in advocating for the interests of the 50+ community while collaborating closely with Congressional Republicans. Her role involves strategizing and promoting initiatives aimed at benefitting this demographic.
Before assuming her current position, she served as the coalition’s director & senior legislative assistant for Congressman Joe Sempolinski (NY-23). In this role, she managed various aspects of the Congressman’s legislative endeavors, including Congressional appropriations requests, co-sponsorship movement, and stakeholder engagement.
Prior to her work with Congressman Sempolinski, she spent four years at the Harley-Davidson Motor Company. Her responsibilities included overseeing the US government affairs strategy and managing the Harley Political Action Committee (HarleyPAC).
April’s professional background also encompasses advocating for the scope of practice of advanced practice registered nurses for the American Nurses Association and safeguarding artists’ intellectual property rights for the Recording Academy – The Grammys.
With a deep-rooted passion for public service, April has held roles at all levels of government – municipal, county, state, and federal – across the legislative, executive, and judiciary branches.
Originally from Arizona, she pursued a BS in political science from Northern Arizona University and obtained a master’s degree in public administration from the University of Colorado at Denver.
Jacquelyn Cattage was born and raised in Jackson, MS. She obtained an undergraduate degree in psychology from the University of Mississippi (Ole Miss) and moved to Saint Louis, MO where she trained and received a doctorate in clinical psychology at Saint Louis University. She completed her postdoctoral training at Family Care Health Centers and has remained on staff at the federally qualified health center to this day with a clinical focus in pediatric behavioral health issues and assessment of Autism in children and adolescents. She is also involved in medical education, holding the position of part-time adjunct behavioral science faculty in the SSM Saint Louis University Family Medicine Residency in St. Louis. Jacquelyn is a wife and mother of three young children, one of whom was diagnosed with a rare genetic condition (SETD5 deletion) in 2020. Jacquelyn is passionate (both personally and professionally) about helping families gain education and understanding of neurodevelopmental conditions and reducing barriers to accessing assessment, treatment, and support services, especially within the BIPOC (black, indigenous, and people of color) community. She is excited to have been chosen to participate on Simon’s Searchlight Foundation Community Advisory Committee to help and support creative efforts to expand outreach to those communities that are currently underrepresented in the medical research of rare genetic conditions.
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.
Adrienne M. Gilligan
Adrienne M. Gilligan, PhD is a Director of Value, Evidence and Outcomes in Oncology at Eli Lilly where she develops and oversees health economics and outcomes research (HEOR) strategy from clinical development through commercialization for the oncology pipeline. She is a senior-level HEOR professional with over 10 years of experience in the pharmaceutical industry in the areas of health economics, outcomes research, pricing and reimbursement, and health technology assessment. In addition, she has served as an adjunct assistant professor at the University of North Texas School of Pharmacy since 2013. She has experience developing and conducting various applied research and data analytic methods and has an extensive knowledge of a wide variety of methods and models analyzing health disparities, cost of care, resource utilization, quality-of-life indicators, and retirement trends working with large retrospective databases. Her research has resulted in multiple publications across a variety of therapeutic areas, including oncology, neurology, cardiology, and wound care. Dr. Gilligan holds a PhD and master’s degree in pharmaceutical economics, policy and outcomes from the University of Arizona and a bachelor’s in economics from the University of North Texas. She lives in Forth Worth, TX with her husband (Jason), 2-year old son (Vincent), 1-month old son (Caleb) and their vizsla (Yoshi). Her son, Vincent, was diagnosed with ARID1B-related disorder in November 2022. She hopes to be able to contribute to the CAC as an advocate for her son.
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.
Alida James-Fenner is a former educator, teacher mentor/coach, school/museum administrator, educational technology consultant, constant maker of to-do lists and a vocal advocate for her son, Evan. He was diagnosed with 2q23.1 microdeletion syndrome in 2012 at age four. Now known as MAND (MBD5-Associated Neurodevelopmental Disorder), Evan is one of about 600 known cases worldwide. Although there is variation among those diagnosed with MAND, Evan’s diagnosis includes Autism, Intellectual Disability, ADHD, Epilepsy, Scoliosis, Bilateral degenerative progressive high myopia, and a myriad of other medical and educational concerns. He is also kind, expressive, clever, joyful, loving, and a whiz with any sort of technology.
Alida helps to moderate numerous support spaces; including the 2q/MAND Caregiver Support group and the MAND Research Roundtable on Facebook. She is active in her local community as well, most recently working with the Mid-Atlantic Equity Consortium as a Maryland Parent Representative. She prides herself on finding opportunities for Evan to participate in as many adapted activities as possible, including waterskiing, boating, camping, theater, hip-hop and ballet classes, karate, and Miracle League to name a few.
Alida is excited to join the Community Advisory Council this year. She hopes to bring attention to MAND as a research opportunity for scientists, to highlight some of the unique challenges of being a member of a minority group while also being diagnosed with a rare disorder, and to offer continued support and knowledge to “2qties” and their families around the World.
She lives in Maryland with her husband Jesse and their son.
Piotr Kosla is a proud parent of 2 years old fraternal twin girls – Lena & Zuzia. Lena has extremely ultra rare, single point mutation in the PACS2 gene with only dozens of cases diagnosed worldwide.
Following Lena’s rapid diagnosis thanks to whole exome sequencing (7 weeks from 1st seizure) in February 2022, together with his wife Malgorzata, they have decided to take advantage of their entrepreneurial spirits to save their daughter and founded PACS2 Research Foundation (May 2022) to start exploration around PACS2 syndrome. Completely from scratch as a mechanism of action is unknown. Today, they work with several scientists across the whole world, actively managing 7 projects and pushing science to help all patients with PACS2 syndrome, almost all of whom have a mutation in the same place.
Very quickly, together with his wife Malgorzata, they went beyond PACS2 syndrome, supporting other families and helping them navigate in this complex world. “I am thrilled to be joining Simons Searchlight as a CAC member, a program with whose mission I am fully aligned, where I can leverage my professional background and personal journey to uplift and advocate for families impacted by rare diseases. The opportunity to contribute to this cause ignites an unparalleled sense of purpose within me, underscoring the importance of supporting others in their moments of greatest need. The rare diseases community has captured my profound interest, and I am committed to driving scientific progress and bringing the international voice of rare disease patients and their families.”
Piotr holds a master’s degree in finance & international management, but quickly turned his pathway towards commercial bringing experience from various industries and today he is focusing on rare diseases in his professional life. He is rare- disease community contributor 24/7. He lives with his family in Warsaw, Poland.
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.
Ashley Point grew up in Marietta, Georgia and graduated from the University of Kentucky. Ashley worked in national political fundraising for 10 years before attending medical school at Marshall University, where she met her husband, Dana. After two years, she left medical school to stay home with their three children –Jackson (born 2012), Davis (2014) and Alex Cate (2017). Ashley became interested in Koolen-de Vries Syndrome (KdVS) after her son, Davis, was diagnosed with Koolen-de Vries Syndrome (KdVS) at 16 months old. She serves as President of the KdVS Foundation and the My Kool Brother Foundation. Ashley feels that collaboration i skey to treatments and cures for neurological disorders and is excited to join the Simons Searchlight Community Advisory Committee (CAC). Ashley and her family currently reside in Wilmington, North Carolina.
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.
Rebeca Ridings Figueroa
Rebeca is the Research Program & Charity Manager at Cure CLCN4. Her role is to help advance the goals of Cure CLCN4, working with the Board of Trustees to develop, shape and implement Cure CLCN4’s research strategy, policy and governance. Originally from the Canary Islands (Spain), Rebeca completed a PhD in Genetics at the University of Cambridge. She also holds a Master’s by Research and a BSc in Molecular Cell Biology from the University of York. Simons Searchlight has been an integral part of Cure CLCN4’s mission of moving the research on CLCN4-related conditions forward, and Rebeca is now excited to give back by bringing her energy and expertise to the Simons Searchlight CAC and to contribute to the CAC’s mission of supporting and shaping research initiatives within the Simons Searchlight community.
Liz Spitzer, PhD is a licensed clinical psychologist and mother to her son, who has a rare genetic disease. As a psychologist, she has worked in both private practice and hospital settings, including being a clinical research psychologist studying the implementation of best practices for suicide prevention within the Department of Veterans Affairs. Liz is also the Chief Operations Officer and Co-Founder of the DYNC1H1 Association. She is excited to join Simons Searchlight’s CAC to help continue to improve Simons Searchlight and make sure information is accessible and relevant to patient communities.