The goal of this study is to identify genes that convey susceptibility to major symptoms in patients with chromosome 8p deletions and duplications.
After we identify the critical region of genes, we will examine their structure and function which will enable a delineation of molecular pathogenesis and, ultimately, the goal of prevention and treatment. Understanding how these genetic differences alter brain function may help develop better treatments and support for individuals with 8p deletions/duplications. Our study has been approved by the Columbia University Institutional Review Board (IRB# AAAA5719).
Dr. Wendy Chung on Project 8p – Chromosome 8p disorders and deletion
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
In January 2019, we hosted a global video conference presented by the medical team with key highlights on the goal of the study and the process. Families had the opportunity to ask direct questions.
Please note any progress or updates since the date of the presentation have not been reflected…
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 and healing. 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.
Meet the Medical and Research Team
Wendy Chung, M.D., Ph.D.
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. She has authored over 300 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and the New York Academy Medal for Distinguished Contributions in Biomedical Science. Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She led the pilot newborn screening study of spinal muscular atrophy in NY that helped lead to nationwide adoption of this test in newborns. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and served on the Institute of Medicine Committee on Genetic Testing. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.
M. Elizabeth Ross, MD, PhD
Head, Laboratory of Neurogenetics and Development
Director, Center for Neurogenetics
Chair, Neuroscience Graduate Program of Weill Cornell Medical College
Dr. M. Elizabeth Ross received her M.D. from Cornell University Medical College, Ph.D. from Cornell University Graduate School of Medical Sciences, and her training in Neurology at Massachusetts General Hospital, Harvard Medical School, and molecular genetics at Harvard and Rockefeller University. She directs the Center for Neurogenetics in the Brain and Mind Research Institute, Weill Cornell Medicine, which supports research into the genetic causes of neurological disorders in children and adults. The Center has both basic science and clinical arms, evaluating patients with neurological disorders of attributable to a single gene mutation or requiring multi-gene interactions and operates the biobank for the neurological community at Weill Cornell. Neuroscientist faculty in the Center investigate the mechanisms underlying pathogenesis of these conditions. Her own research group, the Laboratory of Neurogenetics and Development, focuses on discovery of gene mutations associated with brain malformations and investigation of how these genes direct the construction of brain. Three major projects encompass: 1) genetic interactions that lead to spina bifida, 2) cell cycle regulation and its role in growth and cellular patterning of brain, and 3) regulation of neuronal movement, synapse formation and turnover that are critical to the function of developing and aging brain. These three areas of study are approached from both a basic science perspective, using biochemical, cell biological and mouse genetic tools, and clinical genetics, pursuing how an altered gene-or several genes together-causes impaired brain function. This is the essential first step to finding improved therapies tailored to the individual patient.
If you have an idea for a future study or a potential funding source, please contact us at firstname.lastname@example.org or complete this form.
For researchers interested in submitting proposals or collaborating with our 8p study, please contact us at email@example.com or complete this form.
Patient Data Collection Process
One of Project 8p’s most important job is to protect patients by following well-planned protocols.
In this research study, we will ask participant families to provide us with copies of their genetic test report to confirm the cytogenetic diagnosis and medical records including brain MRI and EEG studies. If the 8p deletion and/or duplication was detected only by karyotype and/or FISH, we will provide families free microarray testing to more precisely map the region of deletion/duplication.
Additionally, we will conduct telephone interviews with parents to collect more detailed medical histories if the medical records are incomplete.
We may request blood and skin samples to create cell lines and induced pluripotent stem cells (iPSCs) from participants. We will use those iPSCs to generate neural (brain) cells and investigate the effects of 8p alterations on those cells. Local health care providers will obtain the blood or skin biopsies and ship them to our laboratory. We will pay for the expenses to collect and ship those samples.
There will be no financial cost to the participants. We will inform participants about the progress of the study.