Unlocking the Mysteries of Limb-Girdle Muscular Dystrophy Due to POMK Deficiency
The POMK gene supports glycosylation of dystroglycan in muscle cells; when it is disrupted, weakness starts in childhood or adolescence and progresses at varying speed.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
LIPE-related Familial Partial Lipodystrophy: Unlocking the Genetic Mysteries
Mutations in the LIPE gene disrupt hormone-sensitive lipase, shifting fat away from the limbs and face and bringing insulin resistance and high triglycerides.
Lissencephaly 6 with Microcephaly: Navigating the Genetic Landscape
Explore the genetic landscape of Lissencephaly 6 with Microcephaly, highlighting the role of genetic testing in early diagnosis, personalized treatment, and family planning.
Lymphatic Malformation 4: Diagnosis and Genetics
Disfigurement, pain and drainage problems can accompany LM4; genetic testing can confirm the diagnosis, separate it from other lymphatic malformations and shape care.
Mapping the Mystery: Genetic Testing for Early-Onset Macular Degeneration
Variants in complement and lipid metabolism pathways contribute to macular degeneration that begins early in life; genetic testing can identify people at risk.
Macular Dystrophy With Central Cone Involvement: Testing
Central vision loss, trouble distinguishing colors and light sensitivity point to this inherited cone disorder, which DNA sequencing can trace to a variant.
Mysteries of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2: Unveiling Genetic Testing's Role
De novo CCND2 mutations stabilize cyclin D2 and drive abnormal brain cell growth, producing megalencephaly, polymicrogyria, extra digits and hydrocephalus.
Mysteries of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 3: Unraveling the Genetic Code
Brain and limb development are disrupted by a de novo CCND2 change, and confirming that variant defines MPPH syndrome 3 and informs prenatal and family planning.