About Our Medical Scientific Board
The Medical Scientific Board of the Potocki Lupski Hope Research Foundation is a distinguished group of world-class professionals dedicated to advancing research, treatment, and care for individuals affected by Potocki-Lupski Syndrome (PTLS) and other related genetic conditions. Our board comprises experts across diverse fields, including genetics, neuroscience, developmental pediatrics, and clinical research. Together, they provide strategic direction, scientific oversight, and innovative solutions to help us achieve our mission of improving the lives of families impacted by PTLS worldwide.
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Lori Potocki is Professor and Vice Chair for Undergraduate Medical Education in the Department of Molecular and Human Genetics at Baylor College of Medicine and Texas Children's Hospital. She graduated from Boston University College of Liberal Arts with a Bachelor degree in Biology in 1983 and earned her Doctor of Medicine degree from the Boston University School of Medicine in 1987. After completing a Genetics Fellowship at Baylor College of Medicine, Dr. Potocki established herself as a medical educator and clinical geneticist and is internationally recognized for the clinical characterization of two RAI1-related conditions—Smith-Magenis syndrome and Potocki-Lupski syndrome. Dr. Potocki is the recipient of several teaching awards including the Barbara and Corbin J. Robertson Presidential Award for Excellence in Education, and the Master Clinician Award at Baylor College of Medicine. Over her 30-year career at Baylor College of Medicine Dr. Potocki has mentored dozens of medical students and clinical genetic trainees and provides clinical care for children with developmental and genetic conditions and their families. When not at the Texas Medical Center, you can often find Dr. Potocki enjoying a bike ride or practicing yoga.
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Jim Lupski is Cullen Professor of Genetics & Genomics and Professor of Pediatrics. He received his initial scientific training at Cold Spring Harbor Laboratory as an Undergraduate Research Participant (URP) and at New York University receiving his undergraduate degree in chemistry and biology (1979), completing the MD/PhD program in 1985. In 1986, he moved to Houston, Texas for clinical training in pediatrics (1986-1989) and medical genetics (1989-1992), then, established his laboratory at Baylor College of Medicine. Jim is an elected member of AAAS (1996), ASCI (1998), IOM/NAM (2002), and American Academy of Arts and Sciences (2013). For his work in human genomics and elucidation of genomic disorders, he received a DSc honoris causa in 2011 from the Watson School of Biological Sciences at CSHL. He has co-authored more than 900 scientific publications, co-edited 3 books including the definitive text on genomic disorders, is a co-inventor on more than a dozen patents and delivered over 546 invited lectures in 38 countries.
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Dr. Sarah Elsea Professor of Molecular & Human Genetics at Baylor College of Medicine is a distinguished geneticist specializing in rare disorders, particularly Potocki-Lupski Syndrome (PTLS) and related conditions. With a wealth of experience and expertise, Dr. Elsea has made significant contributions to the field of medical genetics through her research and clinical practice. She currently serves as a key figure at Baylor College of Medicine, where she leads groundbreaking research initiatives aimed at better understanding PTLS and developing effective treatments. Dr. Elsea's dedication to advancing knowledge and improving the lives of individuals with rare genetic disorders has earned her recognition and respect in the international scientific community.Director of Clinical Genomics for the BCM-Human Genome Sequencing Center
Completed postdoctoral fellowships in human molecular and clinical biochemical genetics at BCM
Board certified in Clinical Biochemical Geneticn by the American Board of Medical Genetics & Genomics
Member of several professional societies and has authored > 150 scientific and lay articles
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Doctor Pehlivan is an Assistant Professor in the Department of Pediatrics/Neurology at Baylor College of Medicine (BCM). He graduated from University of Istanbul and completed his genetic residency training at the same institute. He then moved to United States of America and joined the laboratory of James Lupski at BCM to study identifying genetic etiologies of many neurological conditions. He completed his second residency in Child Neurology at BCM. He is a physician scientist at Texas Children’s Hospital and working on genetic-based treatments for neurogenetic disorders. He has co-authored over 110 articles and received numerous awards from national/international organizations.
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Katherina Walz, Ph.D., is an Associate Professor at the Dr. John T. Macdonald Foundation Department of Human Genetics, Director for the Division of Human Disease Modeling at the John P. Hussman Institute for Human Genomics, University of Miami, Florida, and Independent Investigator at the Consejo Nacional de Investigaciones Científicas y Técnicas CONICET, Argentina. Dr. Walz obtained her Ph.D. in Biology (1998) from the University of Buenos Aires and did her postdoctoral training at Dr. JR Lupski’s laboratory in the Molecular and Human Genetics Department at Baylor College of Medicine, Houston, TX (1998-2004), where she generated the first animal model for PTLS. She established her laboratory at the Centro de Estudios Científicos (CECS), Valdivia, Chile (2005-2009) and she later moved it to the University of Miami (2009-present). She is interested in the molecular basis of human genetic conditions, from the validation of the genetic cause to the elucidation of the molecular and physiological pathways related to human genetic diseases in general and PTLS in particular.
Commitment to Excellence and Collaboration:
The board works tirelessly to uphold the foundation's commitment to rare disease research by fostering collaboration among clinicians, scientists, and advocacy groups. Their shared vision ensures that families affected by PTLS have access to the latest scientific discoveries, compassionate care, and vital resources.
Together, the Medical Scientific Board stands as the cornerstone of our mission: to drive research advances in genetic disorders, raise Potocki-Lupski Syndrome awareness, and offer hope to families navigating the challenges of rare genetic conditions.
Jamison, 19 with his parents Shelly & Joe