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.
West syndrome brings sudden involuntary muscle contractions in infancy, and array comparative genomic hybridization is suggested first when standard evaluation fails.
Discover the role of Interleukin 6 in various diseases, the diagnosis process, and the benefits of genetic testing for managing IL-6-related disorders effectively.
Reported features include developmental delay, cleft lip and palate, microcephaly and skeletal changes; whole genome sequencing is used to find the genetic cause.
Diagnosis combines clinical assessment, MRI showing the molar tooth sign, and DNA analysis of genes such as TMEM67, CEP290, SUFU and RPGRIP1L.
Two mutated genes act together in this subtype, one of them SUFU. Testing confirms the diagnosis and supports prenatal and carrier testing in affected families.
When mutations in two genes combine, diagnosis gets harder. Prenatal findings, SUFU variant research and zebrafish models of this ciliopathy are all covered.
Anemia, neurodegeneration and movement disorders can all stem from autosomal recessive L-ferritin deficiency, where naming the mutation supports earlier, targeted care.
Red blood cells carrying LWa or LWb antigens define this rare blood group system, and serological or genetic tests help match donor blood safely.