What is DAND?
DEAF1-Associated Neurodevelopmental Disorders (DAND) is a group of ultra-rare genetic disorders resulting from the mutation in the DEAF1 gene. DEAF1 (deformed epidermal autoregulatory factor 1 homolog) plays a critical role in early brain development and regulates the functionality of other genes and proteins in the brain and central nervous system.
The DEAF1 gene has steadily moved into the top handful of genes relevant for understanding Autism.
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Common traits associated with DAND include autism, developmental delays/intellectual disability, impacted speech, seizures, abnormal gait, movement disorders, sleep disturbances, anxiety, and a high pain tolerance.
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The FDA considers ultra-rare genetic conditions as diseases that affect less than 1 in 50,000 individuals in the U.S. There are approximately 200 known DAND cases identified in the world to-date. However, we believe there are likely thousands—if not tens of thousands—undiagnosed cases. Due to this small population, accelerating understanding, developing clinical trials—and, ultimately, treatment—presents an increased challenge for this ultra-rare genetic condition.
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DEAF1-Associated Neurodevelopmental Disorders (DAND) comprises two distinct disorders with different modes of inheritance and slightly varying symptoms (and associated severity):
Our Mission
The DAND Alliance is committed to advancing awareness, understanding, and treatment of DEAF1-Associated Neurodevelopmental Disorders (DAND): the Vulto-van Silfhout-de Vries Syndrome (VSVS) and NEDHELS Syndrome.
Through community engagement, scientific research, and collaborative partnerships, The DAND Alliance aims
to improve the quality of life for affected individuals and their families.
Community Engagement
DAND families around the world stay connected through our active Facebook community.
Scientific Research
We are actively collaborating with scientists, clinicians, and the medical community to accelerate discoveries and drive progress in DAND research.
Collaborative Partnerships
Help us get one step closer to treatments
Meet the Board
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President, Chairperson of Board
Jacalyn has more than 20 years of experience architecting communications strategy for global and startup brands in the consumer tech, media, and wellness industries, including Equinox, The Knot, Care.com, and Gopuff.
Her journey into advocacy began in 2024 when her youngest daughter, Isla, was diagnosed with DEAF1-Associated Neurodevelopmental Disorders (DAND). Determined to empower families navigating the complexities of raising a child with a disability, Jacalyn became a credentialed Non-Attorney Special Education Advocate and champions neurodiversity inclusion. Now, through The DAND Alliance, Jacalyn is leading efforts to advance awareness and critical scientific research for DAND.
Jacalyn lives in New York with her husband and three children.
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VP, Vice Chairperson of Board
Leslie graduated from the University of Central Florida with a Business degree and has 20 years of experience as a leader in the Financial Services industry. Leslie lives in South Florida with her husband and their two boys and being a mom is Leslie’s most treasured role.
In March 2024, her youngest son Nash was diagnosed with DEAF1 and the journey into the world of rare disease began. According to the geneticist at the time, Nash was 1 of 35 documented cases in the world, which made the journey even more challenging and unguided. Leslie is passionate and determined to seek awareness, education, and medical guidance to provide Nash and children like him with the best quality of life.
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Advocacy Chair, Board Director
Rohini lives in the Washington, DC area with her husband and three boys. Her youngest son Aran, 5, was diagnosed with DEAF1 and since then her family has been passionate about advancing research into DEAF1 and the rare disease community in general.
Rohini has served at the highest levels in the White House, U.S. Senate, and several presidential campaigns. She is currently a fellow at Stanford’s Institute for Human-Centered Artificial Intelligence and a Venture Partner at Fusion Fund, focused on early stage technology and health care companies. She has negotiated various legislation over the last two decades, including the Affordable Care Act, Breakthrough Therapies and Devices designations at the FDA, as well as multiple payments related provisions at the Centers for Medicare and Medicaid.
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Secretary, Marketing + Community Engagement Chair, Board Director
Annie lives in Seattle, WA with her husband, their two children, and pup Tilly. Her son was diagnosed with VSVS at 10 months and is an incredibly motivated, social, and adventurous little guy. By day, Annie works in program management in the tech industry and feels fortunate to be able to apply her professional experience in support of The DAND Alliance. In her (limited) spare time, she loves to cook, bake, craft, and support her children’s school. Annie received her Bachelor’s degree from Cornell University.
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Scientific + Clinical Advisory Committee Chair, Board Director
NSF S-STEM I-ACED Grant Program Manager
Postdoctoral Associate, Department of Bioengineering
Rice University, Houston, TX
Lesia received her PhD in Biomedical Engineering and has experience in neuroscience, synthetic biology, computational modeling, and research administration. Her passion lies in science communication and research administration, which she hopes to employ to support collaborative research around DEAF1 globally and expedite the clinical DAND symptom management and treatment. Lesia’s daughter Ella, diagnosed with DAND is now 2, goes to the Rise School of Houston, is a sensory toy enthusiast, and a rising pianist.
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Treasurer, Finance + Audit Committee Chair, Board Director
Rio Escueta is a seasoned financial professional with nearly 30 years of experience in accounting, financial operations, and systems optimization. A Certified Public Accountant (CPA) in New York State, he holds an MBA from the NYU Stern School of Business.
Rio began his career in public accounting before spending 17 years at American International Group (AIG) in New York and Paris, focusing on corporate accounting, financial controls, and global financial operations. Since 2019, he has been with AmTrust Financial Services, specializing in cloud financial applications and finance systems to enhance reporting and drive efficiencies. With a strong background in financial management, corporate accounting, and systems integration, Rio brings a strategic and solutions-driven approach to supporting business growth and financial decision-making.
Rio lives in New York with his wife and three daughters. His youngest daughter, diagnosed with DAND, constantly inspires him to see the world from a new perspective.
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Advisor, Board Director
Catherine Kahn is a dedicated advocate for families affected by rare diseases, proudly serving as a Parent Board Member for The DAND Alliance. Her commitment to this mission is deeply personal, rooted in her journey with her son, who was diagnosed with VSVS syndrome due to a mutation in the DEAF1 gene shortly before his second birthday in 2014. As one of the first families in the United States identified with this rare disease, Catherine recognized the need for community and support, prompting her to establish a Facebook group to connect with other families facing similar challenges.
Since her son's diagnosis, Catherine has been actively involved in raising awareness and fostering connections within the rare disease community. She has attended numerous rare disease forums and reached out to researchers around the world who are engaged with the DEAF1 gene, advocating for increased understanding and research into VSVS syndrome. Through her efforts at The DAND Alliance, she works collaboratively with board members and stakeholders to enhance educational resources, support research initiatives, and create a strong, interconnected community for affected families.
In addition to her role at The DAND Alliance, Catherine enjoys traveling with her family and spending time on the water. She believes that these experiences are essential for building resilience and connection within her family. Catherine resides in Southern California, committed to creating a brighter future for all individuals impacted by VSVS syndrome and other rare diseases.
Scientific Advisory Board
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Associate Professor, Division of Molecular and Integrative Physiology
Southern Illinois University School of Medicine
Studies indicate that individuals with pathogenic heritable and de novo mutations in the DEAF1 gene have intellectual disabilities, speech disorders and autism spectrum disorders (termed DEAF1-Associated Neurodevelopmental Disorders or DAND). Dr. Jensik’s research goal is to characterize the mechanisms, likely due to a common subset of molecular and cellular alterations, by which the various DEAF1 mutations cause DAND.
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Associate Professor of Genetics, Yale Stem Cell Center
Yale University School of Medicine
In-Hyun Park received his Ph.D. from the University of Illinois at Urbana-Champaign, where he studied mTOR pathways regulating cell growth and myogenic differentiation in the laboratory of Jie Chen. He continued his research as a postdoctoral fellow in George Daley’s laboratory at Boston Children’s Hospital, where he isolated one of the first human induced pluripotent stem cells (iPSCs) and investigated epigenetic changes during reprogramming process.
Park started his own laboratory at Yale University in 2009 and is now an associate professor of genetics in the Yale Stem Cell Center and the Child Study Center. Park investigates human neurodevelopment and related disorders using human iPSCs and develops in vitro brain developmental model systems.
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Scientific + Clinical Advisory Committee Chair, Board Director
NSF S-STEM I-ACED Grant Program Manager
Postdoctoral Associate, Department of Bioengineering
Rice University, Houston, TX
Lesia received her PhD in Biomedical Engineering and has experience in neuroscience, synthetic biology, computational modeling, and research administration. Her passion lies in science communication and research administration, which she hopes to employ to support collaborative research around DEAF1 globally and expedite the clinical DAND symptom management and treatment. Lesia’s daughter Ella, diagnosed with DAND is now 2, goes to the Rise School of Houston, is a sensory toy enthusiast, and a rising pianist.
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Chief, Department of Pediatrics
Mary Ellen Avery Professor of Pediatrics Boston Children's Hospital
Harvard Medical SchoolWendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity, diabetes, autism, birth defects including congenital diaphragmatic hernia and congenital heart disease. She has led studies to improve newborn screening for spinal muscular atrophy, Duchenne muscular dystrophy, and now GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns). She is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.
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Pediatric Neurology
Columbia University
Jennifer Bain, MD, PhD, is an assistant professor of neurology and pediatrics at Columbia University Medical Center. Dr. Bain completed both an M.D. and Ph.D. as well as general pediatrics residency at Rutgers–New Jersey Medical School in New Jersey. She then trained in Child Neurology at New York Presbyterian – Columbia University Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology seeing both inpatient and outpatient pediatric neurology patients. Her clinic focuses on diagnosis and management of autism, cerebral palsy, and neurodevelopmental disorders in addition to genetic disorders associated with such conditions.
Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic-ischemic encephalopathy. During her residency training, her clinical research focused on studying autonomic dysfunction in children with autism spectrum disorders and neurological complications during extracorporeal membrane oxygenation. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in development, behavioral neurology, autism, and cerebral palsy. Her clinical research has focused on studying the genetics of neurodevelopmental disorders including autism and cerebral palsy. The genes she has also worked closely on include HNRNPH2 and related disorders, GRIN disorders, KIF1A. She is interested in understanding clinically meaningful measures in families affected by neurodevelopmental disorders and measuring longitudinal trajectories in such disorders. She has been working closely with several patient advocacy groups, researchers, and Simons Searchlight to continuously move forward in the understanding of the developing and aging brain.
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Former FDA Director of Orphan Products Development and Rocket Pharmaceuticals, Chief Regulatory Officer
Dr. Gayatri R. Rao is a seasoned FDA and biotech executive with over 20 years of experience advancing medical product development for rare diseases and innovative therapies.
Most recently, she served as Chief Development Officer and Chief Regulatory Officer at Rocket Pharmaceuticals, where she spearheaded the end-to-end development of transformative gene therapy programs from translation through global regulatory filings.
Her leadership in the private sector followed a nearly decade-long tenure at the FDA, including seven years as Director of the Office of Orphan Products Development (OOPD). In that role, she oversaw congressionally mandated programs providing millions of dollars in incentives to accelerate rare disease research, including launching a natural history grant program, and leading the implementation of the rare pediatric disease priority review voucher program. Before leading OOPD, she served as an Associate Chief Counsel in the FDA’s Office of Chief Counsel following an earlier career in private practice at Sidley Austin LLP.
She holds an M.D. from Rutgers New Jersey Medical School, a J.D. from the University of Pennsylvania Law School, and a Master of Bioethics from the University of Pennsylvania School of Medicine.
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Vice President, AAV Research & Development
Rocket Pharmaceuticals, Inc.
Dr. Herzog is a seasoned translational scientist with a 25-year history in nonclinical and early clinical phase R&D. He obtained his Ph.D. in Behavioral Neuroscience from Rutgers University and pursued post-doctoral research in Neurochemistry at Ohio State University before transitioning to the biotechnology industry.
Over the course of his career, Dr. Herzog has gained expertise, most notably in field of gene therapy, that spans the R&D pipeline from initial target identification and construct engineering to the successful design and execution of IND-enabling nonclinical programs supporting first-in-human clinical trials. He is passionate about advancing much-needed therapeutics for genetic disorders of the central nervous system, cardiovascular system, and related conditions.
Dr. Herzog has most recently been with Rocket Pharmaceuticals, Inc. for over 7 years advancing gene therapies for rare and devastating diseases.