Unraveling the Mystery of Mitochondrial DNA-related Disorders
Because mtDNA passes only from the mother, conditions such as LHON, MELAS, MERRF and NARP follow that pattern, and DNA analysis has clear uses as well as clear limits.
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
Understanding, Diagnosing, and Using Genetic Testing for Mitochondrial Trifunctional Protein Deficiency 2
HADHA and HADHB mutations leave the body unable to break down long-chain fatty acids, and MTPD2 can involve muscle weakness, cardiomyopathy and liver dysfunction.
Understanding, Diagnosing, and Using Genetic Testing for Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy
Mutations in the HADHA and HADHB genes leave the body unable to break down fats for energy. Muscle weakness, nerve damage, diagnosis and carrier testing are covered.
Deciphering the Complexities of Muscular Dystrophy, Congenital: Understanding, Diagnosing, and Using Genetic Testing
Progressive weakness and wasting of skeletal muscles can affect movement, breathing and swallowing; EMG, muscle biopsy, MRI and DNA analysis are used to find the cause.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Myopathy due to Dihydropyridine Receptor Defect
CACNA1S mutations leave the dihydropyridine receptor working abnormally, with muscle weakness, hypotonia, joint contractures and delayed motor milestones.
Unlocking the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Congenital Myopathy with Neonatal Respiratory Insufficiency
If a newborn has severe muscle weakness with trouble breathing and feeding, SELENON gene testing can confirm this autosomal recessive congenital myopathy.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Nonprogressive Myopathy
Reduced muscle tone and weakness are present from birth and do not typically worsen, with life expectancy generally normal for those affected.
Understanding, Diagnosing, and Using Genetic Testing for Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis
Exercise can worsen the muscle pain and weakness here, with raised serum creatine kinase and, in some people, muscle breakdown that threatens the kidneys.