Decoding Cardiomyopathy with or without Skeletal Myopathy: A Genetic Testing Guide
Tafazzin, Desmin, Duchenne carrier status and the LRP12, GIPC1, NOTCH2NLC and RILPL1 genes feature in the research on heart and skeletal muscle disease set out here.
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
Decoding the Mystery of Coppock-like Cataract: Genetic Testing and Beyond
A congenital lens opacity with a fluffy, cotton-like look has been traced to CRYBB2 on chromosome 22q11.2 and to a GJA3 mutation in a large Chinese family.
Decoding the Mystery of Autosomal Recessive Cataract 9: Understanding, Diagnosing, and Using Genetic Testing
Both parents must pass on a mutation, giving carrier couples a 25% chance per pregnancy. Reported variants include a FYCO1 founder change and GJA3 and GJA8 mutations.
Decoding the Genetic Mysteries of Cataract 9, Multiple Types, with Microcornea
Cataracts paired with abnormally small corneas can mimic Lowe, Chanarin-Dorfman or Waardenburg syndrome, so gene testing separates Cataract 9 with microcornea from them.
Unlocking the Mystery of Childhood Hypophosphatasia: A Journey Through Understanding, Diagnosis, and Genetic Testing
Weak bones, early tooth loss, delayed growth and seizures follow the ALPL mutations behind childhood hypophosphatasia, which disrupt the TNSALP enzyme.
Decoding Chitotriosidase Deficiency: Understanding, Diagnosing, and Harnessing Genetic Testing
Discover the importance of chitotriosidase deficiency as a biomarker for lysosomal storage diseases and learn how genetic testing aids in diagnosis and treatment options.
Unlocking the Mysteries of CIC-DUX Sarcoma: Genetic Testing and Beyond
A rare soft tissue sarcoma of children and young adults, marked by a CIC-DUX4 fusion gene that RT-PCR, FISH or next-generation sequencing can confirm.
Decoding Congenital Adrenal Insufficiency: Unraveling the Genetic Mysteries
Fatigue, low blood pressure and electrolyte imbalance can signal congenital adrenal insufficiency in a child; whole-exome sequencing can identify causes beyond CAH.