MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.
Discover the role of genetic testing in diagnosing and understanding Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome, enabling informed decisions and potential treatments.
Large head circumference, developmental delays, lymphoid tissue overgrowth and persistent fetal hemoglobin define this rare disorder diagnosed by genetic testing.
Anesthetic drugs can set off a rapid temperature rise, while intense exercise can break down muscle; variants in RYR1, CASQ1 and ASPH are linked to both reactions.
Rigid skin, bone defects and underdeveloped lungs can occur in mandibuloacral dysplasia with type A lipodystrophy, which imaging and DNA testing help diagnose.
KIF2A, ELP4 and LAMA2-RD findings show how DNA analysis pinpoints mutations behind microcephaly, cortical malformations and intellectual disability.
Both conditions stem from mitochondrial DNA changes such as T8993G, with developmental delay and seizures in infancy or ataxia and retinitis pigmentosa in adulthood.
DGUOK mutations cut the supply of mitochondrial DNA in liver and brain, bringing hypoglycemia, hepatomegaly, seizures and lactic acidosis in the first months of life.
Three heterozygous RYR1 mutations were found in a woman with congenital myopathy and episodes of paralysis; testing separates this from similar neuromuscular disorders.