Harnessing Genetics: Understanding Hirschsprung Disease, Susceptibility to, 4
In southern Chinese children, the SNP rs17160783 in GJA8 was associated with greater susceptibility to long-segment disease, a gene better known for cataracts.
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
Hypermethioninemia with Deficiency of S-adenosylhomocysteine Hydrolase: Harnessing Genetic Testing for Early Intervention
Genetic testing for hypermethioninemia aids in early diagnosis, personalized care, and family planning, improving patient outcomes in rare genetic disorders.
Harnessing Genetic Testing for Hypertrophic Cardiomyopathy 16: A Pathway to Precision Medicine
Pinpointing pathogenic variants sharpens an HCM16 diagnosis where standard tests fall short, shapes monitoring and lets relatives learn their own risk.
Heralding Hope: Genetic Testing for Hypertrophic Cardiomyopathy 19
One newly reported FLNC variant is tied to an aggressive form of HCM19 with early onset and high mortality, making family screening central.
Harnessing Genetics for Hypertrophic Cardiomyopathy 20: A New Frontier in Early Detection and Management
Years can pass without symptoms, so a pathogenic variant is often the first sign of HCM20; family screening and metabolite research are covered too.
Harnessing Genetic Insights for Hypertrophic Cardiomyopathy 7: A New Frontier in Diagnosis and Management
Whole exome sequencing turned up variants in 101 genes in HCM7, a wider spread than routine sarcomeric panels cover, complicating interpretation.
Harnessing Genetic Insights: A Deep Dive into Hypertrophic Cardiomyopathy 9
Microvascular dysfunction ties HCM9 to the MDM2 protein and HIF signaling, the pathway behind myocardial capillary growth in the heart muscle.
HPRAFAS: Four Features and What Testing Adds
Excess uric acid, pulmonary hypertension, failing kidneys and disturbed blood pH occur together in HPRAFAS, and this page sets out what genetic markers may add.