Understanding, Diagnosing, and Using Genetic Testing for ERCC2-Related Disorders
The ERCC2 gene makes the XPD protein used in DNA repair; faults in it underlie Xeroderma Pigmentosum, Trichothiodystrophy and Cockayne Syndrome.
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
Unraveling the Mystery of ERCC6-Related Disorders: A Comprehensive Guide
Growth failure, intellectual disability and hearing loss run through the ERCC6 disorders — Cockayne, De Sanctis-Cacchione, UV-sensitive and COFS syndromes.
Decoding EYA4-Related Disorders: A Guide to Understanding, Diagnosis, and Genetic Testing
Dilated cardiomyopathy, progressive hearing loss, developmental delay and vision problems can stem from EYA4 mutations, which sequencing and deletion analysis detect.
Understanding the Complexities of F12-Related Disorders
Coagulation factor XII is impaired when the F12 gene is altered, producing factor XII deficiency, hereditary angioedema type III or clotting problems such as thrombosis.
Understanding, Diagnosing, and Using Genetic Testing for Familial High Density Lipoprotein Deficiency
Low HDL cholesterol, raised triglycerides, xanthelasmas and corneal opacities can accompany mutations in APOA1, ABCA1 or LCAT, the genes that govern HDL metabolism.
Understanding Familial Periodic Fever
MEFV, TNFRSF1A and MVK mutations sit behind FMF, TRAPS and HIDS, the recurrent fever syndromes grouped as FPF and treated with NSAIDs, colchicine or biologics.
Demystifying FIG4-Related Disorders: Understanding, Diagnosing, and Genetic Testing
Mutations in FIG4 disrupt a phosphatase that nerve cells need, producing conditions such as CMT4J and Yunis-Varon syndrome; carrier and prenatal testing are explained.
FLNB-Related Spectrum Disorders: Which Test to Use
Targeted mutation analysis, full FLNB sequencing and deletion or duplication studies differ in what they detect across atelosteogenesis, Larsen and SCT syndromes.