Rare diseases are rare, but rare disease patients are numerous. More than 300 million people globally are impacted by rare diseases. At the Jackson Laboratory, the Rare Disease Translational Center (RDTC) is not only working to shorten the road to therapeutics through precision engineering to treat and cure rare diseases, but also leveraging their insights to advance progress in common diseases such as Alzheimer’s disease and cancer. Join RDTC director and Bar Harbor resident, Cat Lutz, to learn the basics of rare disease, how she and her team have designed a unique approach to work with patients and families, and how JAX research in this area will expand in the coming years.

Cathleen (Cat) Lutz, Ph.D., M.B.A. is the Vice President of the Rare Disease Translational Center at The Jackson Laboratory (JAX). With 25 years of experience in mouse genetics, Dr. Lutz has focused her research efforts on patient organizations and families diagnosed with rare diseases. The JAX Rare Disease Translational Center incorporates precision mouse models and broad-based drug efficacy testing to support investigational new drug (IND) enabling studies. She serves as the Principal Investigator of multiple NIH sponsored programs including the Center for Precision Genetics, The Somatic Cell Genome Editing Center, and Mouse Mutant Research and Resource Center. As a neuroscientist by training, Dr. Lutz has worked on models of the central nervous system such as Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis (ALS) and Friedreich’s Ataxia. Dr. Lutz was recently awarded a 2021 Rare Impact Award by the National Organization for Rare Disorders.