Decoding Dejerine-Sottas Disease: Genetic Testing's Promise
Classified as Charcot-Marie-Tooth type 3, this inherited neuropathy damages the myelin sheath and brings progressive muscle weakness, atrophy and sensory loss.
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
Delving into Desbuquois Dysplasia 1: Genetic Testing as a Beacon of Hope
Joint dislocations, joint laxity and short stature mark Desbuquois dysplasia 1, an autosomal recessive bone disorder linked to variants in the CANT1 gene.
Decoding Desmoid Tumors: The Role of Genetic Testing in Diagnosis and Treatment
Locally invasive but non-metastatic, desmoid tumors appear most often in the abdomen, shoulder and thigh, and CTNNB1 testing separates them from lookalike growths.
Decoding Diaphyseal Dysplasia: The Promising Role of Genetic Testing
Also called Camurati-Engelmann disease, diaphyseal dysplasia brings bone pain, weakness and fatigue; TGFB1 testing confirms it and clarifies inheritance.
Diving into Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1: The Role of Genetic Testing
Genetic variants in GSX2 and PCDH12 have been linked to this brain malformation, whose effects range from developmental delay to movement disorders and visual impairment.
Decoding Dominant Dystrophic Epidermolysis Bullosa with Absence of Skin: Genetic Testing's Role in Understanding and Managing the Disorder
Fragile, blistering skin and, in some cases, congenital absence of skin follow COL7A1 mutations that leave type VII collagen and anchoring fibrils defective.
Exploring Ectopia Lentis 1, Isolated, Autosomal Dominant: The Role of Genetic Testing
Displacement of the eye's crystalline lens defines this isolated, autosomal dominant disorder, in which one altered copy of the gene is enough to cause it.
Exploring Genetic Insights: Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/Palate
Limb malformations occur alongside skin, hair, nail and tooth changes but without the cleft lip or palate of related disorders; TP63, JAG2 and MID1 are studied.