Glycogen Storage Disease IIIc Diagnosis by Gene Sequencing
Targeted gene sequencing identified 15 variants, 10 of them novel, in a group of pediatric patients, and it separates GSD IIIc from other glycogen storage subtypes.
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
GM2-Ganglioside Accumulation: Causes and Diagnosis
Buildup of GM2 gangliosides damages nerve cells in disorders such as Sandhoff disease, and gene analysis can confirm the diagnosis and find carriers.
Heart Block: DES, PDE4DIP and KCNH2 Gene Findings
Disrupted electrical signaling slows or scrambles the heartbeat; case reports link DES, PDE4DIP, KCNQ2 and KCNH2 variants to heart block and related rhythm problems.
Decoding High Bone Mass: Understanding, Diagnosing, and Genetic Testing
Increased bone density is assessed with X-rays, bone density scans and blood and urine tests, and mosaic AMER1 and RUNX2 deletions and GALNT3 variants are reported.
What HDLQTL11 Means for HDL Cholesterol Levels
HDL cholesterol removes excess cholesterol from the bloodstream, and this locus sits among the monogenic, polygenic and unexplained factors that shape its levels.
Genetic Testing for HDL-C QTL9 and Cholesterol
Monogenic, polygenic and unexplained dyslipidemias each shape LDL cholesterol differently, and DNA analysis is used to tell them apart for prevention planning.
Understanding, Diagnosing, and Using Genetic Testing for Hyperapobetalipoproteinemia Susceptibility
Apolipoprotein B rises with APOB gene mutations, raising the chance of atherosclerosis and coronary artery disease. Carrier, prenatal and treatment uses are described.
Unraveling the Genetic Links: Hyperkeratotic Cutaneous Capillary-Venous Malformations and Cerebral Capillary Malformations
Skin lesions on the limbs and clusters of dilated vessels in the brain can share a KRIT1 or CCM3/PDCD10 mutation; the page explains testing and family risk.