Charcot-Marie-Tooth Disease: Unraveling the Genetic Threads of a Neurological Enigma
Understand Charcot-Marie-Tooth disease, its genetic complexities, and how advances in genetic testing improve diagnosis, treatment, and patient outcomes.
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
Chronic Mucocutaneous Candidiasis: Genetic Testing Unlocks New Frontiers in Diagnosis and Management
Recurring Candida infections of the skin, nails and mucous membranes follow immune dysfunction; STAT1 mutations and how testing shapes treatment are described.
Cracking the Code: Understanding Citrullinemia Through Genetic Testing
Ammonia builds up in the blood when the urea cycle is disrupted; ASS1 mutations, newborn screening, carrier testing and the disorder's two types are outlined.
Cracking the Code: Understanding Cleft Lip with or without Cleft Palate through Genetic Testing
Nonsyndromic CL/P involves many genetic loci alongside environmental influences such as maternal smoking; testing, counseling and access barriers are set out.
Cleft Lip/Palate: Prenatal Screening and Counseling
Prenatal screening, including non-invasive prenatal testing, is presented as a route to earlier planning, alongside counseling and prerepair mortality research.
Cleft Palate and the BRCA1/2-p53 DNA Repair Pathway
Tissues in the mouth fail to fuse during fetal development; research on the BRCA1/2-p53 DNA damage response pathway and what testing might add are discussed.
Cockayne Syndrome: A Genetic Testing Revolution in Disease Prevention
Growth failure, premature aging and neurological impairment trace back to the DNA repair genes ERCC6 and ERCC8; preimplantation testing during IVF is described.
Coffin-Siris Syndrome: Unveiling the Genetic Mysteries with Modern Testing
Explore Coffin-Siris syndrome, its genetic roots, and how modern genetic testing aids in early diagnosis, personalized treatment, and informed family planning.