Charcot-Marie-Tooth Disease Type 2Y: Unraveling the Genetic Threads
Rather than the myelin sheath, CMT2Y affects nerve axons; whole-exome sequencing can find the responsible variants, though some remain of uncertain significance.
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 Type 4K: Unraveling Genetic Mysteries
Foot deformities, walking difficulty and reduced sensitivity to heat and pain mark CMT4K, a recessive neuropathy that mutation testing can pinpoint.
Chorea, Childhood-Onset, with Psychomotor Retardation: The Genetic Key to Unlocking Treatment Paths
Rapid involuntary movements with delayed motor and cognitive development define this childhood-onset disorder, which has been linked to ABAT gene mutations.
Cracking the Code: Understanding Combined Oxidative Phosphorylation Defect Type 27
Because its symptoms overlap with other mitochondrial disorders, COXPD-27 is pinned down by sequencing, which then guides metabolic monitoring and nutrition plans.
Cracking the Code: Understanding Combined Oxidative Phosphorylation Defect Type 30
Either nuclear or mitochondrial DNA can carry the mutation behind COXPD-30, and care spans metabolic monitoring, nutrition plans and developmental therapies.
Deciphering Combined Oxidative Phosphorylation Deficiency 28: A Genetic Testing Perspective
VARS2 encodes a mitochondrial aminoacyl-tRNA synthetase; mutations in it impair protein synthesis and bring the muscle weakness and delay seen in COXPD28.
COXPD29: Wide Symptom Range and Genetic Diagnosis
Symptoms range widely between individuals with COXPD29, from developmental delay to muscle weakness, so finding the causal gene mutation guides care and counseling.
Confronting Complex Lethal Osteochondrodysplasia: The Role of Genetic Testing
Skeletal hypomineralization with brain, lung and kidney anomalies marks CLO, a disorder usually found in utero; carrier and prenatal testing are covered here.