Sarcoglycanopathy: Unlocking the Genetic Code to Combat Muscular Dystrophy
Part of the limb-girdle muscular dystrophy group, it weakens the shoulder and pelvic girdle when an alpha, beta, gamma or delta sarcoglycan gene is mutated.
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
Scimitar Anomaly: A Rare Pulmonary Vein Heart Defect
Right pulmonary veins drain into the inferior vena cava instead of the left atrium, with effects ranging from none to respiratory distress and heart failure in infants.
Solving the Puzzle of Semilobar Holoprosencephaly: The Role of Genetic Testing
Explore how genetic testing aids in diagnosing semilobar holoprosencephaly, enhancing early intervention, family planning, and personalized care strategies.
Severe Combined Immunodeficiency Disease: The Role of Genetic Testing in Diagnosis and Treatment
T and B cells fail to develop when IL2RG, ADA or RAG1/RAG2 is altered; next-generation sequencing shows which gene is involved and shapes treatment choices.
Short Rib-Polydactyly Syndrome: A Genetic Puzzle Unlocked
Explore Short Rib-Polydactyly Syndrome, its genetic basis, and how ICK gene testing aids diagnosis, carrier identification, and personalized treatment plans.
Smith-McCort Dysplasia: Unlocking Genetic Mysteries for Better Diagnosis and Management
Short stature, distinctive facial features and spinal abnormalities mark this skeletal disorder, which DYM gene mutations cause, alongside other genetic factors.
Spastic Tetraplegia: Unraveling Genetic Threads for a Clearer Diagnosis
All four limbs are affected in this severe form of cerebral palsy, which can occur with thin corpus callosum and microcephaly linked to SLC1A4 gene variants.
Dyslexia and Specific Learning Disabilities: Genetic Testing
Fluent reading, spelling and word recognition are affected in dyslexia, which runs in families, and genetic screening is studied as a route to earlier support.