Breaking Down Benign Familial Hematuria: The Role of Genetic Testing
Blood in the urine from thin basement membrane nephropathy traces to type IV collagen genes, and pinpointing a COL4A4 variant helps separate it from Alport syndrome.
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
Challenging Cholestasis: Genetic Testing and Intrahepatic Cholestasis of Pregnancy, 1
Intense itching and rising bile acids in the third trimester mark this liver disorder, linked to ABCB4 and ABCB11 variants and treated with ursodeoxycholic acid.
Coffin-Siris Syndrome 1: Genetic Testing's Role in Unraveling a Rare Disorder
Mutations in the ARID1B gene underlie Coffin-Siris Syndrome 1, which brings developmental delay, intellectual disability, a wide mouth and thick eyebrows.
CFEOM: Limited Eye Movement, Genes and Diagnosis
Restricted eye movement and an abnormal head position from birth mark CFEOM, a form of strabismus that KIF21A, PHOX2A and TUBB3 testing can confirm.
Congenital Microvillous Atrophy: MYO5B and STX3
Underdeveloped intestinal microvilli leave newborns unable to absorb nutrients, causing chronic diarrhea; MYO5B and STX3 testing supports diagnosis alongside biopsy.
Congenital Multicore Myopathy with External Ophthalmoplegia: A Genetic Lens into a Complex Condition
Cores of damage in muscle fibers cause weakness and fatigue, while external ophthalmoplegia limits eye movement and causes ptosis; SEPN1 and RYR1 testing confirms CMMEO.
Congenital Myopathy with Fiber Type Disproportion: Unraveling the Genetic Threads
Explore the role of genetic testing in diagnosing congenital myopathy with fiber type disproportion, a rare muscle disorder affecting muscle tone and strength.
Genetic Glimpses: Understanding Fuchs Endothelial Corneal Dystrophy
Endothelial cells that stop clearing fluid leave the cornea swollen and vision blurred; in FECD, TCF4 mutations can be found before symptoms start.