Greg Cox, Ph.D.
Visiting Professor
Studies the genetics of degenerative muscle diseases using mouse models for SMA, ALS, muscular dystrophy and more.
Our lab uses mouse models to identify the molecular pathways underlying degenerative motor neuron diseases in humans, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease). We cloned the gene for neuromuscular degeneration in a mouse model for a lethal infantile form of SMA known as spinal muscular atrophy with respiratory distress. In addition, we are studying genetic background effects on onset and progression of ALS symptoms in the mouse model in hopes that these will provide novel targets for therapy.
We are also studying mice with degenerative muscle diseases that are models for specific forms of muscular dystrophy in humans. We cloned a genetic defect and have localized the mutation to the muscle-specific titin gene, the largest known coding gene in the mammalian genome. The mouse strain is a novel model of progressive muscular dystrophy. We also identified the mutation for a new form of rostrocaudal muscular dystrophy that affects skeletal muscle tissues with an unusual front-to-back severity of symptoms. We now have an excellent model for this childhood disorder to learn about the molecular causes of disease and to test for potential therapeutic strategies.
Grants, honors and accomplishments
1994 - Distinguished Dissertation Award, University of Michigan. 1994–1995 NIH Developmental Genetics Postdoctoral Training Grant, The Jackson Laboratory.
1991–1993 - National Science Foundation (NSF) Predoctoral Fellowship, U Michigan.
1989–1990 - NIH Predoctoral Genetics Training Grant, University of Michigan.
1988 - Fred Telonicher Memorial Award, Humboldt State University.
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Featured ArticleDecember 12, 2023An epic journey into rare disease research
Sarah Holbrook, a Ph.D. candidate at the University of Maine, is wrapping up her time at JAX, a major step in her epic journey in rare disease research. -
Featured ArticleJuly 29, 2021Exposing the genetics of ALS
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. As of now, there is no known cure, but researchers at The Jackson Laboratory (JAX) and elsewhere are undaunted and hard at work. -
Search MagazineSeptember 19, 2019The path to personalized treatments for rare diseases
The genetic study of rare diseases is giving us insight into how to examine and treat more common diseases, said JAX experts at a recent JAXtaposition event in Portland, ME. -
Search MagazineJune 26, 2017Meet the muscle man
Neuromuscular diseases start by hampering mobility and progress to threatening vital processes like breathing and swallowing. Greg Cox wants to knock them all out.
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Press ReleaseDecember 19, 2022An outstanding year of growth at The Jackson Laboratory
2022 has been a notable year for The Jackson Laboratory, with great achievements and many reasons to celebrate continued momentum for JAX’s mission. -
Research HighlightSeptember 15, 2020Defective protein quality control and neuromuscular disease
JAX Associate Professor Greg Cox discovered that mutations in NEMF, a key component of RQC, cause neuromuscular disorders in mice. He also identified human patients with pathogenic variants in NEMF who exhibit both motor neuron dysfunction and intellectual disabilities, underscoring RQC’s clinical importance. -
Press ReleaseAugust 04, 2017$3.3M grant to JAX for study of new ALS candidate gene
A new five-year federal research grant totaling $3,322,009 to JAX Associate Professor Greg Cox will fund studies of a new mouse model for amyotrophic lateral sclerosis (ALS). -
Search MagazineJune 20, 2017Genetic self-discovery
Cortney Lavorgna is a college student who is exploring the neuromuscular disease she lives with in a JAX research experience.