Harnessing Genetic Testing for Hyperparathyroidism 1: A New Era in Diagnosis and Management
High blood calcium from excess parathyroid hormone can be severe in newborns. Variants in CASR, GNA11 and AP2S1 and what they mean for treatment are covered.
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
Harnessing Genetic Insights: Understanding Hyperparathyroidism 2 with Jaw Tumors
Loss of parafibromin, the protein made by CDC73, is linked to parathyroid and jaw tumors. The page covers early detection, family screening and treatment planning.
Harnessing Genetic Testing: Insights into Hyperpigmentation with or without Hypopigmentation, Familial Progressive
Patches of darker or lighter skin vary widely even within a family. HPHP-FP passes in an autosomal dominant pattern, and DNA testing can confirm the diagnosis.
Harnessing Genetic Testing for Hypertaurinuric Cardiomyopathy
Fatigue, breathlessness and rhythm problems can mark hypertaurinuric cardiomyopathy. Next-generation sequencing, early detection and variant limits are described.
Hyperthyroxinemia, Dystransthyretinemic: Diagnosis
Raised thyroxine can imitate an overactive thyroid without its symptoms; testing for variants in hormone-binding proteins is what tells the two apart.
Hypertriglyceridemia, Familial: Harnessing Genetic Testing for Better Health Outcomes
High triglycerides often go unnoticed until pancreatitis or a heart attack; DNA testing separates the familial form from other lipid disorders.
Harnessing Genetic Testing for Hypochondroplasia: A New Horizon in Diagnosis and Management
FGFR3 mutations cause hypochondroplasia, short stature usually milder than achondroplasia. Genetic testing guides treatment, and vosoritide is under study.
Heralding Hope: Genetic Testing for Hypogonadotropic Hypogonadism 7 with or without Anosmia
Insufficient gonadotropins hold back sexual development and can affect smell. A SOX10 mutation links HH7 to Waardenburg syndrome and shapes care.