A new world of opportunity in rare diseases
Today: Contrary to the name, rare diseases are actually fairly common: an estimated 1 in 10 people worldwide are affected at any given time. Rare diseases span a huge range of severities, symptoms and causes, from devastating neuromuscular diseases like ALS to behavioral disorders.
In the future: Imagine a world in which more scientists are armed with better animal models of rare diseases, so that more therapies can be tested and lead to effective treatments for these diseases, and so many more.
JAXtaposition: Research by JAX neuroscientist Cat Lutz, Ph.D. led directly to the development of Spinraza, the first FDA-approved drug to treat spinal muscular atrophy. Approximately 80 percent of rare diseases are genetic in origin, and about half affect children. Many are fatal -- very few have cures. Cat and her colleagues partner with foundations, other scientists worldwide and pharmaceutical and biotech companies to facilitate research into treatments for these patients.
This is the future of medicine. This is JAXtaposition.
Senior Director, Mouse Repository & In Vivo Pharmacology Genetic Resource Science
and Senior Research Scientist
Dr. Lutz 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.
A neuroscientist by training, Dr. Lutz conducts research in neurodegenerative diseases, including Spinal Muscular Atrophy (SMA), Friedreich’s ataxia, Amyotrophic Lateral Sclerosis (ALS) and Frontotemperal Lobe Dementia (FTD). Her lab works closely with multiple disease foundations and researchers in the development, characterization and validation of mouse models that support their research and drug discovery goals. These organizations include The ALS Association, The Friedreich’s Ataxia Research Alliance, the Spinal Muscular Atrophy (SMA) Foundation, Cure SMA, and the Grace Science Foundation.