With leading scientists, international networking, precision animal models, and next-generation genetics and genomics technologies, The Jackson Laboratory is investing in the futures of people living with rare diseases.
While individually rare (by definition, affecting fewer than 200,000 people in the U.S.), rare diseases collectively affect about 350 million people globally, and thus represent a major health issue. About 80 percent of rare diseases are genetic in origin, about half affect children, many are fatal, and very few have cures. Rare conditions are often described as “orphan” because they receive relatively little attention and investment from pharmaceutical companies.
To our researchers, that just does not seem fair. Through the work within the Rare and Orphan Disease Center, our researchers are developing custom genetic tools that bring real hope to families with rare diseases.
Neuroscientist Cat Lutz, Ph.D., is the director of the Rare and Orphan Disease Center, and she works closely with many rare disease foundations and researchers to support their research and drug discovery goals. Research by Lutz and her collaborators led directly to the development of Spinraza, the first FDA-approved drug to treat spinal muscular atrophy. Now, her team is developing new mouse models for dozens of rare diseases, including SETBP1, Multiple Sulfatase Disorder, Friedreich’s Ataxia, and more.
JAX Professor and neuroscientist Rob Burgess, Ph.D., studies Charcot-Marie-Tooth (CMT) disease, which causes damage to the bundles of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs. Affecting one in about 2,500 people each year, CMT includes more than 80 different genetic mutations, each with very different disease processes and symptoms. Currently, there are no cures.
JAX Associate Professor Greg Cox, Ph.D., is at the hub of a network of researchers, mouse model experts, clinicians and patient families, all dedicated to finding the genetic causes and potential treatments for neuromuscular diseases. In his own lab Cox focuses on SMA and its very rare variant, spinal muscular atrophy with respiratory distress (SMARD), as well as ALS and Duchenne Muscular Dystrophy.
A JAX research team led by Cat Lutz launched a project to develop gene therapy strategies and to test small molecules for the treatment of multiple sulfatase deficiency, a rare genetic disorder.
Chris Brannigan has recently completed a 700 mile trek barefoot across England to raise awareness for the rare disease affecting his daughter Hasti: Cornelia de Lange syndrome (CdLS). The march took 35 days, but it is only the start of the Brannigan’s rare disease odyssey.
Neuromuscular diseases start by hampering mobility and progress to threatening vital processes like breathing and swallowing. Greg Cox wants to knock them all out.
Four years ago as part of The Burgess Lab at The Jackson Laboratory, Kathy Morelli and a large team of collaborators took on the challenge of creating a cure for Caroline, a young girl who was battling an incurable disease called Charcot-Marie-Tooth.
New five-year NIH grant totaling $10.6M funds JAX center to fast-track treatment-focused research for rare genetic disorders.
JAX has recently developed two new genetic mouse models to be used in SETBP1 rare disease research.
Two new mouse models created to study neurological developments in Snyder-Robinson Syndrome to advance global understanding of this rare disease.
JAX neuroscientist Cat Lutz, Ph.D., gave a TED-style talk about strides in rare disease research as part of the Laboratory’s JAXtaposition speaker series. Photo by Brian Fitzgerald.
Scientists are rapidly engineering mice that model these genetic lesions which will be critical for understanding pathogenesis of these diseases.