Familial Cylindromatosis: Unveiling the Role of Genetic Testing
Multiple benign cylindromas on the scalp and face trace back to CYLD gene mutations, inherited in an autosomal dominant pattern and confirmed by genetic testing.
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
Familial Hypocalciuric Hypercalcemia 1: Unraveling the Genetic Mysteries Behind a Silent Condition
Mild hypercalcemia and low urinary calcium usually cause no symptoms; a CASR change such as Q459R confirms FHH1 and rules out conditions that need surgery.
Familial Hypocalciuric Hypercalcemia 2: Decoding the Genetic Puzzle
GNA11 encodes part of the calcium-sensing receptor pathway; a variant that weakens its signaling gives the raised blood calcium and low urinary calcium seen in FHH2.
Familial Idiopathic Hypercalciuria: Unraveling the Genetic Threads of Calcium Imbalance
Losing too much calcium in the urine can lead to kidney stones and reduced bone density; biallelic TRPV5 mutations are one recessive cause that testing identifies.
Unraveling the Genetics: Familial Mediterranean Fever, Autosomal Dominant
Explore Familial Mediterranean Fever, its genetic mutations, and the role of genetic testing in accurate diagnosis, personalized treatment, and family planning.
Familial Type 5 Hyperlipoproteinemia and Lipid Testing
Raised chylomicrons and VLDL can bring pancreatitis and xanthomas; sequencing lipid metabolism genes confirms FTHL and guides lipid-lowering treatment choices.
Foresight in Fibromatosis, Gingival, 1: Genetic Testing and Its Role in Disease Management
Overgrown gum tissue traces back to mutations in the REST gene, and testing can confirm fibromatosis, gingival, 1, including the Jones syndrome hearing loss link.
Fish-eye Disease: LCAT Deficiency, HDL and Corneas
Clouded corneas and low HDL both trace to reduced LCAT enzyme activity; genetic testing can detect fish-eye disease early and inform family planning.