Community Advisory Committee

Christie Abercrombie

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.

Kathy Bergwerk

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

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

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 Dignani

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

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 Dolan

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

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.

Stacey Hanna

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

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 

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.