Medical And Scientific Advisory Board

Ethan Perlstein, PhD

Medical & Scientific Advisor, Scientific CureGuide

Dr. Ethan O. Perlstein is responsible for setting the scientific direction of the Foundation. Ethan uniquely straddles the worlds of Silicon Valley entrepreneurship, drug discovery and development, and patient-led medicine. Ethan received a PhD in 2006 from Harvard University in the Department of Molecular and Cell Biology while working in the laboratory of Professor Stuart Schreiber. He completed an independent postdoctoral fellowship at the Lewis-Sigler Institute at Princeton University from 2007 to 2012.

Ethan is an author on 19 peer-reviewed scholarly publications, including the discovery of a novel mechanism of action for the antidepressant Zoloft based on studies in yeast cells.

Since its founding in 2014, he is CEO of Perlara PBC, the first biotech PBC partnering with highly motivated families to develop treatments and cures for rare genetic diseases applying “evolutionary pharmacology.” Perlara’s first joint venture Maggie’s Pearl is the commercial sponsor of a Phase 3 trial of epalrestat for the treatment of PMM2-CDG at the Mayo Clinic.  Prior experiences include the Christopher & Dana Reeve Foundation as their first Chief Scientific Officer and later as the CEO of the EveryONE Foundation (EOF), cofounded by Dr. Tim Yu and Julia Vitarello, whose mission is to make individualized medicines safe and accessible to everyone.

Wendy Chung

Medical & Scientific Advisor

Precision Medicine Resource Leader-Irving Institute
Medical Director: Columbia Genetic Counseling Graduate Program

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, congenital heart disease, and esophageal atresia, autism, neurodevelopmental disorders, pulmonary hypertension, cardiomyopathy, obesity, diabetes, and breast cancer. She leads the Precision Medicine Resource in the Irving Institute at Columbia University.

Dr. Scott Demarest

Dr. Scott Demarest

Medical & Scientific Advisor

Dr. Scott Demarest is an assistant professor in the Department of Pediatrics, Division of Neurology and the Adult & Child Consortium for Health Outcomes Research and Delivery Science. He is board certified in Neurology with special qualification in Child Neurology as well as Epilepsy. His clinical practice and research focus on the evaluation and treatment of early-life genetic epilepsies. This includes clinical trials for novel therapies for epilepsy, conduct of natural history studies and the development of better outcome measures for early life epilepsies. He received a Bachelor of Science in biology from the University of Texas at Austin before going on to medical school at the University of Texas Health Science Center in San Antonio. He completed his residency in Pediatrics and child neurology at Children’s National Health System in Washington, DC and his Epilepsy fellowship at Children’s Hospital Colorado.

indu Navar

Founder, EverythingALS

Over the past 20 years, Indu has experience in being Co-founder/CEO of software companies and taking them through successful exits, strategic partnerships and M&A. She is an Investor and Strategic Advisor in many startups. She is currently CEO and Founder of EverythingALS. She co-founded geek.ly and Xendota. Prior to that, Indu was Managing Director at Woodside Capital Partners where she advised software companies on strategic financing transactions and M&A. She was Founder and CEO of Serus Corporation, provider of SAAS platform for companies with outsourced manufacturing. The company was acquired by E2OPEN (Nasdaq:EOPN). Prior to Serus, Indu has been on the ground floor of several successful technology companies including Healtheon (WebMD), Silicon Graphics, Black and White Software (Segue). She started her career at NASA in Moffett Field, California. Indu has B.S Electrical Engineering from Bangalore University, India and M.S. in Computer Science from California State University, Chico.

Dr. Devorah Segal

Dr. Devorah Segal

Medical & Scientific Advisor

Dr. Devorah Segal earned her MD and PhD in Neuroscience at Icahn Mount Sinai School of Medicine. She completed her pediatrics and pediatric neurology training at Rutgers New Jersey Medical School and then completed a fellowship in Pediatric Neuro-Oncology at NYU Langone Medical Center. She spent several years practicing general child neurology and neurogenetics, including helping lead a research neurogenetics clinic.  She is now a pediatric neurologist and neuro-oncologist at NYU Langone, where she is associate director of the Comprehensive Neurofibromatosis Center. She treats children with primary brain tumors and patients of all ages with neurofibromatosis and schwannomatosis. Dr. Segal leads several clinical trials treating pediatric brain tumors, neurofibromatosis, and several other genetic disorders with neurologic components.

Why Project 8p?
I have been incredibly inspired with my patients living with 8p and their families. When I first encountered 8p, almost nothing was known about this condition. Thanks in large part to the efforts of Project 8p, we are learning more about the symptoms and course of this condition and are starting to move towards specific treatments and even a cure. Project 8p is a testament to what can be accomplished by a group of passionate, motivated families who are committed to improving the lives of their loved ones in partnership with the medical and scientific community.

Eric Schultz

Medical & Scientific Advisor

Eric Schultz is a distinguished leader in the field of genomics and healthcare innovation. As the Co-Founder and Strategic Advisor of Ocean Genomics, he has been instrumental in providing advanced software for gene expression analysis and supporting groundbreaking research through collaboration with computational biologists and data scientists. With over five years at Ocean Genomics, he has significantly contributed to the advancement of RNA sequencing technologies. Previously, Eric served as President of Informatics, Technology, and Innovation at Cota Healthcare, where he drove strategic initiatives in healthcare data analytics. His academic background from Harvard University has underpinned his professional endeavors, equipping him with a strong foundation in science and innovation. Eric’s diverse experience reflects his commitment to advancing healthcare and supporting community-driven initiatives through his strategic and advisory roles.

Dr. Devorah Segal

Dr. Dennis Lal

Associate Professor and Director of the Center for Neurogenetics
Dr. Dennis Lal, Associate Professor and Director of the Center for Neurogenetics at UTHealth Houston, is a distinguished researcher and educator in genomics and clinical neurogenetics. He earned his B.Sc. in Biochemistry, M.Sc. in Genetics, and Ph.D. in Neurogenetics from the University of Cologne, followed by postdoctoral training in quantitative genetics and bioinformatics at the Broad Institute of Harvard, MIT, and Massachusetts General Hospital. Dr. Lal’s research focuses on understanding genetic contributions to brain disorders, developing disease prognoses, and improving genetic variant interpretation. He has published extensively in prestigious journals and has led bioinformatic analysis groups in major epilepsy genomic research projects. He actively participates in large-scale genomics consortia, advises several rare genetic epilepsy family foundations, and has created educational initiatives to train neurologists in genetics and precision medicine. At UTHealth Houston, Dr. Lal continues his research and promotes the clinical application of genetic tests to advance gene-informed precision medicine clinical trials.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.