Hypophosphatemic Rickets, Autosomal Recessive, 2: A Genetic Insight
ENPP1 changes upset phosphate and calcium balance, bringing bone pain, deformity and slowed growth. Both parents must pass on a copy for ARHR2 to appear.
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
Genetic Guidance: Navigating Inflammatory Bowel Disease 28
Abdominal pain, diarrhea and fatigue mark IBD28, and genetic testing can flag patients at higher risk of myelosuppression from thiopurine drugs before treatment starts.
IDAR13: Carrier Screening and Inherited Causes
Carrier screening can show whether both parents carry the altered gene behind IDAR13, a condition that affects learning, reasoning and everyday tasks.
Illuminating Isolated Microphthalmia 4: The Role of Genetic Testing
Abnormal eye development in Isolated Microphthalmia 4 traces back to PAX6 changes; parental mosaicism in a parent's cells shifts recurrence risk for the family.
Leber Congenital Amaurosis 14: Illuminating Insights through Genetic Testing
Poor vision, nystagmus and photophobia begin early when CRB1 mutations disturb retinal structure, and the variant can track with the rate of decline.
Leprosy Susceptibility: Genetic Risk of Recurrence
Some people see leprosy return after multidrug therapy, and reported risk alleles suggest a genetic reason for closer follow-up care.
Genetic Testing in Acute Lymphocytic Leukemia Care
Mutation profiling in this childhood blood cancer can point to likely chemotherapy response, flag markers tied to relapse and extend screening to family members.
Lymphoproliferative Syndrome 1 (XLP1): SH2D1A Gene
XLP1 is an immunodeficiency tied to SH2D1A mutations, with raised risk of severe infection and lymphoma; X-linked inheritance and carrier testing are covered.