The goal of this study is to identify genes that convey susceptibility to major symptoms in patients with chromosome 8p deletions and duplications.
Part of this study was published here in 2021 funded by Project 8p.
After we identify the critical region of genes, we will examine their structure and function which will enable a
What is the process? In the laboratory, we are growing multiple induced pluripotent stem cell lines that are immortalized. We will differentiate into neuronal cells in 2D or 3D brain organoids to understand the mechanisms better. In parallel, we may consider animal models to understand behaviors in vivo and help us identify which genes have had the greatest impact on the patients. We have identified 4 high priority genes in this study thus far, out of a larger candidate gene pool or critical region in chromosome 8p that has over 20 genes deleted and over 160 duplicated genes
Watch the video meeting in January 2019:
Archived – Watch the video meeting in January 2018:
If we can assess where these cells have dysfunction and find an opportunity to help improve that functionality, wouldn’t you want to be a part of this scientific achievement? If for example, the methylation pathway is impacted by compromised gene expression, thereby limiting the coding for the protein, a wide range of long-term health problems can arise. Other examples can include identifying genes that impact brain development, energy production, muscle tone, and immunity.
While we are in the early phases of this study, Project 8p and its partners are committed to building the larger community of chromosome 8 disorders and expanding the scope with time. We need to start with one focused chromosome region to work out the methods to study related conditions.
Please keep in mind that Project 8p’s goal is for the current study to be the first of many studies that will ultimately lead to treatment. We hope you will continue to collaborate with Project 8p. If you have any questions or are interested in conducting an associated study, please feel free to contact us.
Please note: All patients that are participating will be have their personal information removed to protect their privacy rights.
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.
Volkan Okur, M.D., is a Medical Geneticist from Turkey where he was trained for both clinical and laboratory diagnostic genetic skills. Currently, a postdoctoral researcher at Baylor University. He has worked with Dr. Wendy Chung at Columbia University as a postdoctoral researcher since June 2015 and continues to collaborate with Dr. Chung in delineation of new gene-disease associations.
Shenela Lakhani is an Instructor in Neuroscience and Faculty member at Weill Cornell Medicine, NY. She is the Director of Genetic Counseling and Clinical Engagement for the Center for Neurogenetics at the Feil Family Brain and Mind Research Institute. She is involved with clinical research, teaching and supervision. Her research focuses on Neurodevelopmental Disorders in pediatric patients and the Genetics of Neurological Disorders of Adulthood and Aging.
Shenela is also involved with the All of Us Precision Medicine Research Program funded by the National Institute of Health. Weill Cornell Medicine is part of the New York City Consortium and is one of a handful of hospitals enrolling patients into this landmark study. She was a member of many of the NIH led work groups for this initiative, is a member of the NIH Omics Committee and the Co-Chair for the Genetic Counseling working group.