The advisory board helps the foundation stay connected to research, clinical understanding, and future opportunities.
The JdVS Foundation is committed to spreading awareness and educating communities about Jansen de Vries Syndrome. A crucial part of that mission is staying actively involved with research related to JdVS and the PPM1D gene. We are grateful to be connected with medical professionals, researchers, and educators who have taken an interest in JdVS.
The Medical Advisory Board helps the foundation interpret current research, answer medical and scientific questions, and review future research proposals. As charitable funds allow, the foundation hopes to support research into the PPM1D gene through future grants.
Board members bring a broad range of clinical and scientific experience. As relationships with additional rare-disease stakeholders grow, the board may welcome new members.
The board brings together professionals with different forms of expertise to help the foundation make better-informed decisions.
Help the foundation understand emerging research findings and what they may mean for families and clinicians.
Provide insight into medical and scientific questions that come up as awareness and diagnosis continue to grow.
Support thoughtful review of future research proposals as the foundation continues building its charitable grant work.
Clinical genetics, neurology, molecular genetics, and patient-model research inform the board’s collective perspective.
Clinical Geneticist & Principal Investigator, Radboud University Medical Center
Based in Nijmegen, The Netherlands, Dr. de Vries studies the clinical and molecular basis of neurodevelopmental disorders. His work helped identify genes involved in intellectual disability and autism, including PPM1D in Jansen-de Vries syndrome.
Clinical Geneticist in Training & PhD Researcher
Sandra combines clinical genetics training at Amsterdam UMC with research at Radboud University Medical Center. Her work focuses on improving phenotyping in intellectual disability and finding genetic causes of neurodevelopmental disorders; she and colleagues described the PPM1D-related syndrome now known as JdVS.
Professor of Pediatrics Emerita, UCSF Fresno
Dr. Curry has spent her career in clinical and academic genetics. Her work includes syndrome delineation and the clinical presentation of intellectual disability, including JdVS. She has been instrumental in connecting families and growing the JdVS network.
Pediatric Neurologist & Neurogenetics Specialist, Boston Children’s Hospital
Dr. Srivastava studies genetic causes of neurodevelopmental presentations through gene discovery, cognitive and behavioral phenotyping, and biomarker identification. He also cares for children through neurodevelopmental and neurogenetics clinics.
Researcher, Children’s Mercy Research Institute
Dr. Vivian’s group uses pluripotent stem cells, genome engineering, and mouse models to understand genetic and developmental conditions. The lab uses patient-specific cell models and genome editing to investigate variants such as those associated with JdVS.
Associate Professor, Department of Human Genetics, Radboudumc
Lisenka is a molecular geneticist studying rare genetic disease and intellectual disability. Her work bridges genome-wide technologies and clinical application, and she contributed to the discovery of PPM1D as a cause of Jansen-de Vries syndrome.
Physician-Scientist, Albert Einstein College of Medicine
Dr. Lachman researches the molecular and genetic basis of psychiatric, autism-spectrum, and intellectual and developmental conditions. His laboratory uses patient-derived induced pluripotent stem cells and CRISPR-based models to identify disrupted pathways and potential therapeutic strategies for JdVS.
Learn about the R21 research grantOur Medical Advisory Board helps support families and professionals who are learning about JdVS. Please reach out with questions.
jdvsyndromefoundation@gmail.com