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.
RPGR and RP2 sit on the X chromosome, so males are affected while females usually carry the change; some patients also have recurrent sinus and airway infections.
Discover the role of genetic testing in diagnosing Rett Syndrome and its variants, such as Zappella, for early intervention, family planning, and improved outcomes.
Inherited retinal dystrophies from RPE65 mutations often begin in early childhood. Eye examinations, electroretinography, gene therapy and counseling are covered.
Variants in the gene for the Nav1.5 sodium channel underlie Brugada syndrome, long QT syndrome and progressive cardiac conduction defect, with overlapping symptoms.
Inner ear hair cell damage pairs with mild kidney impairment, often distal renal tubular acidosis; blood and urine tests assess acid-base balance and kidney function.
A protein hormone involved in glucose regulation, adiponectin has been studied as a marker in myocardial infarction, PCOS, psoriasis and type 2 diabetes in smokers.
Microcephaly with abnormal brain folding, epilepsy and developmental delay is assessed with MRI and exome sequencing; IER3IP1 and RTTN variants occur in SGP.
Also known as SADDAN, this disorder combines short stature, bowed limbs and dark thickened skin patches; the FGFR3 Lys650Met mutation is its most common cause.