How CMT2S Affects Nerves: MT-ATP6 and Diagnosis
MT-ATP6 encodes part of ATP synthase, and faults in it degrade the axons behind the weakness, sensory loss and coordination problems seen in CMT2S.
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
Charcot-Marie-Tooth Disease Recessive Intermediate D: Decoding the Genetic Puzzle
Two copies of the altered gene, one from each parent, are needed for CMT recessive intermediate D, which mixes demyelinating and axonal features.
Chronic Atrial and Intestinal Dysrhythmia: A Genetic Perspective on Diagnosis and Management
Mutations in the SGO1 gene disturb both heart rhythm and gut motility in CAID syndrome; testing supports diagnosis, tailored treatment and family counseling.
Cracking the Code: Understanding Combined Oxidative Phosphorylation Defect Type 20
Psychomotor delay, seizures and structural brain anomalies overlap with other mitochondrial diseases, which is why COXPD20 is usually pinned down by genetic analysis.
Cracking the Code: Understanding Combined Oxidative Phosphorylation Defect Type 21 Through Genetic Testing
Defects in the mitochondrial respiratory chain leave cells short of ATP in COXPD21, bringing muscle weakness, developmental delay and neurological problems.
COXPD-23 in Children: Early Signs and Care Planning
Care for COXPD-23 starts early in childhood and combines metabolic monitoring, nutritional support and developmental checks alongside a genetic diagnosis.
Charting the Course of Cone-rod Dystrophy 20: The Role of Genetic Testing
Night blindness, color vision defects and falling acuity mark CRD20; the CFAP410 mutations behind it also connect to macular staphyloma and short stature.
Cutting-Edge Care: Genetic Testing for Congenital Myasthenic Syndrome 14
RAPSN variants leave rapsyn unable to stabilize acetylcholine receptors. Early testing, preimplantation testing (PGT-M) and genetic counseling for families are covered.