Unlocking the Mysteries of ANKRD1-Related Dilated Cardiomyopathy
Dilated cardiomyopathy from ANKRD1 mutations disturbs the ankyrin repeat domain 1 protein that heart muscle needs; sequencing of blood or saliva can confirm it.
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 ANO5-Related Muscle Diseases
Muscle weakness, pain and trouble climbing stairs may reflect LGMD2L or Miyoshi myopathy type 3, which muscle biopsy and ANO5 sequencing help tell apart.
Understanding, Diagnosing, and Using Genetic Testing for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair
Woolly hair and thickened skin on the palms and soles accompany the heart muscle changes of ARVD-11, an autosomal recessive condition tied to the PKP2 gene.
Decoding the Genetic Puzzle: Understanding and Diagnosing Systemic Lupus Erythematosus
TNF-α polymorphisms, PON1 variation, Siglec-G with DNase deficiencies and viral triggers such as EBV are among the genetic findings studied in SLE susceptibility.
Atorvastatin Response: Which Gene Variants Matter
APOE rs7412 and SLCO1B1 variants have been linked to statin response, while CYP7A1 and ABCG8 variants showed none, shaping how atorvastatin plans are tailored.
Unlocking the Mystery of Autosomal Recessive Dejerine-Sottas Syndrome
Muscle weakness, sensory loss and slowed nerve conduction start in infancy in this peripheral neuropathy, linked to EGR2 rather than to PMP22, MPZ or Cx32.
Decoding the Mystery of Autosomal Recessive Infantile Epilepsy
Seizures and neurological signs starting in infancy, often with myoclonic epilepsy, have been tied to the RARS2, AHR and CPLX1 genes through exome sequencing.
Syndactyly, Undescended Testes and CNS Defects Syndrome
Fused fingers or toes, testes that never descend and central nervous system problems appear together in this recessive syndrome, which DNA testing can confirm.