Decoding the Genetic Mysteries of Arrhythmogenic Right Ventricular Cardiomyopathy
Fibrous and fatty tissue gradually replaces heart muscle in arrhythmogenic right ventricular cardiomyopathy. Desmosome variants and family screening are covered.
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
Unlocking the Mysteries of Saethre-Chotzen Syndrome with Eyelid Anomalies: Genetic Testing and Beyond
Craniosynostosis, facial asymmetry and eyelid anomalies can occur in Saethre-Chotzen syndrome. TWIST1 testing helps tell it apart from Muenke syndrome.
Scaphocephaly and Axenfeld-Rieger Anomaly: Genes and Testing
Two conditions that can occur together: premature sagittal suture fusion and anterior chamber defects. Testing for FKHL7 and FOXC1 supports diagnosis and counseling.
Selective Tooth Agenesis: Missing Teeth and MSX1, PAX9
One or more teeth never develop, most often second premolars and upper lateral incisors. Dental X-rays plus gene testing clarify isolated versus syndromic causes.
Unlocking the Mystery of Athabascan-Type Severe Combined Immunodeficiency
Infants of Athabascan-speaking Native American descent can inherit a SCID that lacks working T cells and NK cells; testing supports diagnosis and carrier screening.
Unlocking the Mysteries of B Cell-Negative Severe Combined Immunodeficiency: A Glimpse into Genetic Testing
Antibody-producing B cells are missing in this form of SCID, which has been linked to RAG-1, RAG-2 and NHEJ1 variants that genetic testing can identify.
Unlocking the Secrets of Partial Severe Combined Immunodeficiency: Diagnosis and Genetic Testing
Some immune function remains in partial SCID, which has been linked to MTHFD1 and ADA deficiency; gene panels show which, informing enzyme, transplant or gene therapy.
Unraveling the Enigma: Understanding, Diagnosing, and Using Genetic Testing for Severe Neonatal Hypotonia Improving with Age
Newborns with floppy muscles and feeding trouble may carry CASR or PIGT variants; rapid genome or exome sequencing is advised first-line for unexplained NICU cases.