Fighting Familial Juvenile Hyperuricemic Nephropathy Type 2: The Promise of Genetic Testing
Uric acid builds up in the blood when the kidneys cannot excrete it properly, leading to gout, kidney stones and, over time, chronic kidney disease.
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
Foresight into Fanconi Anemia Complementation Group O: The Role of Genetic Testing
RAD51C, a gene used in homologous recombination repair, is altered in group O, which presents with hematologic abnormalities, developmental delays and cancer risk.
Fanconi Renotubular Syndrome 2: Unveiling the Genetic Mysteries
A recurrent HNF4A variant disturbs how the kidneys reabsorb nutrients and electrolytes, and the reported clinical spectrum now takes in congenital anomalies.
Focal Segmental Glomerulosclerosis 5: Genetic Testing's Role in Diagnosis and Management
The P209L variant in the TRPC6 gene has been tied to adult-onset FSGS5; identifying it supports earlier monitoring, treatment choices and genetic counseling.
Frontonasal Dysplasia: Unraveling the Genetic Threads of Severe Microphthalmia and Facial Clefting Syndrome
Underdeveloped eyes and profound facial clefts mark this frontonasal dysplasia syndrome, and studies of the ALX1 gene show how genetic testing can confirm it.
Gamma-aminobutyric Acid Transaminase Deficiency: Unveiling the Genetic Mysteries
Loss of the enzyme that breaks down GABA lets it build up in the brain, causing the seizures, hypotonia and developmental delay of GABA-T deficiency.
Glaucoma 1, Open Angle, O: Risk Before Symptoms
Vision can be lost before any symptom appears, so genetic markers are used to stratify risk, set monitoring intervals and match patients to likely treatments.
Genetic Insights into Glaucoma 3, Primary Congenital, D: A Pathway to Precision Care
Eye pressure rises at birth or in early childhood, and variants in CYP1B1, TEK, ZC2HC1C, VPS13D and PGF can confirm the diagnosis and inform family planning.