Understanding, Diagnosing, and Using Genetic Testing for Gorham-Stout Disease
Bone resorption in Gorham-Stout disease, also called vanishing bone disease, causes pain, swelling and fractures; imaging and biopsy build the diagnosis.
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
Understanding, Diagnosing, and Using Genetic Testing for Gorlin Syndrome
Multiple basal cell carcinomas, jaw keratocysts and palmar pits point to autosomal dominant nevoid basal cell carcinoma syndrome, which PTCH1 testing confirms.
Understanding Groenouw Corneal Dystrophy Type I: Diagnosis and Genetic Testing
Granular corneal deposits that appear in childhood bring blurred vision, glare and eye pain; slit-lamp exams, topography and TGFBI testing establish GCD1.
Understanding, Diagnosing, and Using Genetic Testing for Helicoid Peripapillary Chorioretinal Degeneration
Spiral-shaped lesions around the optic nerve head cause gradual vision loss; eye examination, OCT and fundus photography are paired with genetic testing to confirm HPCD.
Understanding, Diagnosing, and Using Genetic Testing for Hepatocellular Carcinoma
Arising in hepatocytes, hepatocellular carcinoma is assessed with ultrasound, CT or MRI, AFP blood tests and biopsy; TP53, CTNNB1 and AXIN1 mutations guide treatment.
Understanding, Diagnosing, and Using Genetic Testing for Hereditary Arterial and Articular Multiple Calcification Syndrome
Calcium deposits stiffen arteries and joints in HAAMCS, an autosomal recessive disorder confirmed by next-generation or whole-exome sequencing after X-ray or CT imaging.
Understanding, Diagnosing, and Using Genetic Testing for Hereditary Coproporphyria
Coproporphyrinogen oxidase, made by the CPOX gene, is deficient in HCP, so toxic porphyrins build up. Urine coproporphyrin and CPOX testing help confirm it.
Understanding, Diagnosing, and Using Genetic Testing for Hereditary Hypercarotenemia and Vitamin A Deficiency
In HHAVAD, carotene is not converted into vitamin A: it builds up in the blood and tints the skin, while the shortfall brings night blindness and infections.