Thyrotoxic Periodic Paralysis: Unlocking the Genetic Code to Susceptibility
An overactive thyroid upsets potassium levels and triggers weakness lasting hours to days. Genetic variants tied to TPP support diagnosis and family screening.
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
Tuberous Sclerosis 2 (TSC2): Benign Tumors and Testing
TSC1 and TSC2 changes disrupt cell growth control, producing benign tumors in the brain, skin, kidneys and heart. The TSC2 c.2742+5G>A splicing variant is described.
Waardenburg Syndrome Type 4B: Unraveling the Genetic Threads of a Rare Disorder
Whole exome sequencing identified a novel SOX10 variant in WS4B, a condition that combines Waardenburg features with Hirschsprung disease and hearing loss.
Waardenburg Syndrome Type 4C: Unveiling the Genetic Mysteries
Hirschsprung disease alongside pigmentation and hearing changes defines type 4C; a heterozygous SOX10 deletion in one family supports early and prenatal testing.
Warsaw Breakage Syndrome: The Role of Genetic Testing in Early Detection and Management
DDX11 variants disrupt DNA repair, leaving people with WABS prone to chromosomal instability, developmental delay and growth anomalies; prenatal testing can detect them.
Wrestling with Weill-Marchesani 4 Syndrome, Recessive: The Role of Genetic Testing
Short stature, joint stiffness and ocular abnormalities mark WMSR, a recessive connective tissue disorder; testing confirms it and informs family planning.
Juberg-Hayward Syndrome: Unraveling the Genetic Threads of a Rare Disorder
Limb malformations, facial differences and growth delay overlap with Roberts/SC phocomelia syndrome, and ESCO2 testing tells this cohesinopathy apart.
Advancements in Understanding Achondrogenesis Type II Through Genetic Testing
Rare and severe, Achondrogenesis Type II's diagnosis is enhanced by genetic testing, revealing COL2A1 mutations and offering insights for affected families.