KIF1A.ORG partners closely with the Chung Lab for Human Genetics and Precision Medicine at Columbia University Medical Center. Dr. Wendy Chung and her team lead a comprehensive KIF1A research program focussed on urgently discovering treatment for individuals affected by KIF1A Associated Neurological Disorder. The dedicated researchers and physicians at Columbia University Medical Center collaborate with members of the scientific community to bring us closer to treatment and a cure for KIF1A Associated Neurological Disorder.
- In collaboration with the Lutz Lab at The Jackson Laboratory: expansion of KIF1A mouse models and screening of potential therapeutics
- Patient-derived human iPS cell lines for disease modeling
- Natural History Study
- Collaborations with biotech and pharmaceutical companies
Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist who directs The DISCOVER Program and performs human genetic research. She is the Kennedy Family Professor of Pediatrics and Medicine. Dr. Chung directs NIH-funded research programs in many human genetic conditions including autism, neurodevelopmental disorders, pulmonary hypertension, cardiomyopathies, arrhythmias, breast cancer, and birth defects such as congenital heart disease and congenital diaphragmatic hernias. She leads the Simons VIP study characterizing genetic forms of autism and works on novel treatments for autism. She is a member of the National Advisory Council for Human Genome Research at the National Institutes of Health. View Dr. Wendy Chung’s full profile. View profiles of the Chung Lab team members.
Lia Boyle is a student at Columbia University College of Physicians & Surgeons in their MD/PhD program. Prior to starting medical school, she worked as a research and clinic coordinator at the Kennedy Krieger Institute in Baltimore, MD focusing on rare genetic disorders. It was through her experiences at the clinic that she became dedicated to a career serving individuals with rare genetic conditions and their families.
Cathleen (Cat) Lutz, Ph.D., M.B.A. is Director of the Mouse Repository and the Rare and Orphan Disease Center at The Jackson Laboratory. She has fiscal and managerial oversight of a growing collection of more than 8,500 unique strains, including over 1,700 live colonies for distribution to the scientific community. As part of the Mouse Repository program, Dr. Lutz is the Principal investigator on a number of NIH sponsored resource grants, including the Mutant Mouse Regional and Research Center at JAX, The SMSR grant to support recombinant inbred and Chromosome substitution panels, as well as the NICHD Cytogenetic Resource to support Down Syndrome related strains and research. Dr. Lutz also serves as the Director of In Vivo Pharmacology and Efficacy Testing Program in Bar Harbor, which interfaces with biotechnology and pharmaceutical companies to pursue novel therapeutics across a variety of therapeutic areas. View Dr. Cat Lutz’s full profile.