Decoding the Mystery of Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Severe microcephaly, growth retardation and progressive vision loss occur together in ARCM, which homozygous mutations in the MCM7 gene have been reported to cause.
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
BCHE Fluoride 2: Succinylcholine Response and Genes
Variants in BCHE slow the breakdown of succinylcholine and can prolong neuromuscular blockade after anesthesia, with one study placing 8% of Americans at moderate risk.
Decoding the Mysteries of Bernard-Soulier Syndrome, Type A1: A Guide to Understanding, Diagnosing, and Genetic Testing
Platelets that cannot stick to vessel walls cause prolonged bleeding and look abnormally large on a blood smear, and sequencing three glycoprotein genes confirms it.
Unlocking the Secrets of Beta-plus-thalassemia: Genetic Testing and Beyond
Mutations in the HBB gene reduce functional hemoglobin, causing anemia. The page covers CBC diagnosis, screening ethics, PGD with STR markers and PGT-M.
Junior Blood Group System: ABCG2 and the Jra Antigen
Variants in ABCG2 remove the Jra antigen, giving the Jr(a-) phenotype that can cause transfusion reactions and hemolytic disease of the fetus and newborn.
Bone Mineral Density Variation QTL and Fracture Risk
Polygenic scores improved bone density prediction in one sample of Caucasian women, part of the GWAS work mapping loci behind BMD variation and fracture risk.
Decoding the Genetic Mysteries of Breast Cancer Susceptibility
Folate pathway polymorphisms, ANGPT2 SNPs and non-BRCA signaling genes are among the variants tied to breast cancer risk, and testing can inform screening choices.
Decoding the Genetic Mysteries of Cancer Progression and Tumor Cell Motility
Cancer progression and tumor cell invasion are shaped by genetic changes, from ARHI in liver cancer to PHLPP1/PHLPP2 in colorectal and TGFβ in ovarian cancer.