Comprehending Combined Oxidative Phosphorylation Defect Type 14: A Genetic Insight
Energy production falters in COXPD14, producing muscle weakness, developmental delays and organ problems that vary with the underlying gene mutations.
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
Cracking the Code: Understanding Combined Oxidative Phosphorylation Defect Type 15
Several organ systems can be involved in COXPD15, from neurological signs to muscle weakness and developmental delay, so DNA sequencing often settles the diagnosis.
Complex Cortical Dysplasia with Other Brain Malformations 2: Unlocking the Genetic Mysteries
Abnormal brain development in CDCBM2 brings cognitive and motor impairment, with mutations identified in genes including TUBB, which shapes neuronal structure.
Cone-Rod Dystrophy 18: Decoding the Genetic Puzzle for Better Diagnosis and Treatment
Progressive vision loss in cone-rod dystrophy 18 begins in low light; genetic testing can confirm it, though interpretation, cost and access remain obstacles.
Cracking the Code: Genetic Testing in Congenital Heart Defects, Multiple Types, 3
Heterotaxy, an abnormal arrangement of internal organs, often accompanies CHDMT3; prenatal ZIC3 testing can detect it, though results are complex and access varies.
Congenital Myasthenic Syndrome 13 and the DOK7 Gene
DOK7 mutations disrupt neuromuscular transmission in CMS13. Identifying the variant supports early diagnosis and medication choices such as ephedrine or salbutamol.
Congenital Myopathy with Internal Nuclei and Atypical Cores
Internal nuclei and atypical cores on muscle biopsy point to this inherited myopathy. DNA analysis names the mutation, allows earlier diagnosis and clarifies inheritance.
Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome
Three features define this rare syndrome: low neutrophils, marrow scarring and enlarged kidneys. DNA analysis confirms it, guides treatment and flags relatives at risk.