CMT Type 1A with Focally Folded Myelin Sheaths: Genes
Abnormally folded myelin slows nerve signals in this rare CMT type 1A variant, which has been linked to SBF1, MTMR2 and PMP22 and a locus on 11p15.
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
Unlocking the Mystery of Adult-Onset Chediak-Higashi Syndrome: A Comprehensive Guide to Genetic Testing
Discover the importance of genetic testing in diagnosing & managing adult-onset Chediak-Higashi syndrome, with insights on cDNA sequencing, gene mapping, and case studies.
Unlocking the Mysteries of Chediak-Higashi Syndrome: A Comprehensive Guide to Understanding, Diagnosing, and Genetic Testing
Enlarged lysosomes from LYST mutations bring the recurrent infections, neurological problems and partial albinism of Chediak-Higashi syndrome.
Chondrocalcinosis 2, Sporadic: What Testing Can Show
Without a family history or a known genetic marker, calcium pyrophosphate deposits still inflame the joints, which makes this sporadic form hard to diagnose.
Decoding Citrullinemia: Understanding, Diagnosing, and Utilizing Genetic Testing
Blood and urine tests may show raised ammonia, citrulline and orotic acid; ASS1 gene testing confirms the diagnosis and supports carrier and prenatal screening.
Colon Cancer Susceptibility: Genes Under Study
Insulin-pathway genes such as IGF-I and IGFBP-3, plus AURKA- and PTPRJ-interacting alleles, have been linked to colon cancer risk, with results differing by population.
Understanding, Diagnosing, and Using Genetic Testing for Complement Component 4 Partial Deficiency
A mutation in the C1 inhibitor gene lowers blood C4 and raises susceptibility to infection; complement levels, a function assay and DNA testing confirm the deficiency.
Decoding the Mystery of Conspicuously Happy Disposition: A Comprehensive Guide to Understanding, Diagnosing, and Genetic Testing
Discover the role of genetics in conspicuously happy dispositions, how to diagnose related conditions, and the benefits of genetic testing for personalized treatment and…