Cracking the Code: Understanding and Diagnosing Genetic Nephrolithiasis/Nephrocalcinosis
Kidney stones and calcium deposits sometimes run in families, tracing to CLCN5, SLC34A1 or SLC3A1 variants that upset how the kidneys handle minerals.
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 Mystery: Neurodegeneration and Seizures due to Copper Transport Defect
X-linked recessive ATP7A mutations disrupt copper transport, causing seizures and developmental delay. Copper measurements and gene analysis together confirm it.
Understanding Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities
Developmental delay, early respiratory failure, myoclonic seizures and brain abnormalities mark NDDEMR; exome sequencing or a targeted gene panel confirms it.
Understanding, Diagnosing, and Using Genetic Testing for Neurodevelopmental Disorder with Epilepsy and Hemochromatosis
Seizures, developmental delay and iron overload in the liver occur together in this rare disorder; imaging, iron studies and gene analysis are used to diagnose it.
Understanding Neurodevelopmental Disorder with Microcephaly and Speech Delay, with or without Brain Abnormalities
Smaller head size with delayed speech, with or without brain abnormalities, is assessed by MRI and developmental testing before DNA analysis pinpoints the cause.
Understanding, Diagnosing, and Using Genetic Testing for MTOR-Related Neurodevelopmental Disorder
Epilepsy, developmental delay and autism spectrum features stem from mutations in the MTOR gene, and DNA analysis identifies the specific change behind them.
Understanding, Diagnosing, and Using Genetic Testing for Neurooculorenal Syndrome
Damage spanning the nervous system, eyes and kidneys marks this X-linked recessive disorder, also called Lowe syndrome, and OCRL1 testing can confirm it.
Understanding, Diagnosing, and Using Genetic Testing for Nonsyndromic Oculocutaneous Albinism
Missing melanin in the skin, hair and eyes defines NSOCA. Eye, skin and hair examinations plus gene testing for diagnosis, carrier status and pregnancy are set out.