Greg Cox, Ph.D.
Associate 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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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. -
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. -
Search MagazineApril 13, 2016Thinking about thinking
Professor Robert Burgess, Ph.D., researches neurological disorders such as autism at The Jackson Laboratory. -
Press ReleaseAugust 03, 2015
$1.5 million gift to The Jackson Laboratory establishes Sims Family Fund for SMARD Research
A $1.5 million gift to The Jackson Laboratory (JAX) from Mr. Grant Sims and Ms. Patricia (Patty) Sims of Houston, Texas, will fund research in a rare, life-threatening motor disorder: spinal muscular atrophy with respiratory distress, or SMARD.
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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 20, 2017Genetic self-discovery
Cortney Lavorgna is a college student who is exploring the neuromuscular disease she lives with in a JAX research experience. -
Research HighlightFebruary 26, 2016Hyperactive Somatostatin Interneurons
The processes leading to many neurodegenerative diseases remain unknown despite intense research scrutiny. For example, we still don’t know why, in some people, enough neural cells die to impair movement (in neuromuscular diseases such as amyotrophic lateral sclerosis (ALS)) and cognition (in neurodegenerative diseases such as Alzheimer’s and other dementias). -
Search MagazineOctober 01, 2011Climbing for Silas
Gus La Casse attracts pledges for SMARD research at The Jackson Laboratory.