Rare Diseases

Minor genetic anomalies can have catastrophic consequences. Some of the “simplest” of genetic diseases—with known defects in a single gene—are still incurable. And fatal.

Bringing preclinical genome editing to the clinic

Research Highlight June 02, 2023 Learn More

Implementing gene therapies for rare diseases

Research Highlight May 18, 2023 Learn More

News and Insights

Research HighlightJune 02, 2023

Bringing preclinical genome editing to the clinic

Research HighlightMay 18, 2023

Implementing gene therapies for rare diseases

Press ReleaseFebruary 21, 2023

Chan Zuckerberg Initiative grant will support rare neurological disorder research

Featured ArticleDecember 02, 2022

JAX Rare Disease Translational Center strives to advance rare disease research

Featured ArticleAugust 18, 2022

Battling SPG50 and changing how we treat rare diseases

Press ReleaseMay 12, 2022

Cat Lutz named VP of Rare Disease Translational Center at JAX

Press ReleaseMay 03, 2022

JAX announces 2022 recipients of the JAX Scholar awards

Research HighlightMarch 30, 2022

JAX is shedding light on new treatments for eye disease

Related Services

Genome Scanning Service

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Most Popular JAX Mice Strains

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Education Resources

Jul 17 - 28
Short Course

Human and Mammalian Genetics and Genomics: The 64th McKusick Short Course

Precision medicine, Ethics, Stem cells, Microbiome, Infectious Disease, Immunology, Model Development, Rare Diseases, Aging, Cardiovascular, Cancer/Tumors, Developmental Biology, Diabetes, Genetic Tools, Optogenetics and Pharmacogenetics, Autoimmunity, Inflammation, Lupus, Addiction, Dermatology, Autoimmune Diseases Information, Metabolic Diseases, Neurodegenerative Disease, Reproductive Biology, Down Syndrome, Fragile X, Rett Syndrome, Breast Cancer, Neurodevelopmental Defects, Metabolic Defects, Cystic Fibrosis, Genetics and Genomics, Reproductive Disorders, Complex Traits, Developmental Disorders, Diabetes and Obesity, Neurodegenerative and Neuromuscular Diseases, Immune Disorders, Bioinformatics, Computational Biology, Cancer
May 17 - 23
Workshop

Workshop on Techniques in Modeling Human Cancer in Mice

Endocrinology, Genetic Tools, Rare Diseases, Neurodegenerative Disease, Cancer/Tumors, Genetics and Genomics, Cancer

Research & Faculty

David E. Bergstrom, Ph.D.

David E. Bergstrom, Ph.D.

Research Scientist

Cathleen (Cat) Lutz, Ph.D., M.B.A.

Cathleen (Cat) Lutz, Ph.D., M.B.A.

Vice President, Rare Disease Translational Center

The Cox Lab

Researches the molecular pathways of human degenerative muscle diseases.

Mouse Genome Informatics

International database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data.

Mouse Mutant Resource

Mice harboring spontaneous mutations have long been a major source for animal models of human genetic disorders, particularly mendelian diseases. The Mouse Mutant Resource maintains over 700 established mutant strains.