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.
Facial anomalies including underdeveloped cheekbones and jawbones, along with hair loss, define MFDA; ETAR gain-of-function mutations disrupt signaling pathways.
An Iranian study of 45 participants found six pathogenic variants in MODY, a monogenic, autosomal dominant diabetes that is often mistaken for type 1 or type 2.
Because its symptoms overlap type 1 and type 2 diabetes, MODY type 14 is often missed; APPL1 testing confirms the autosomal dominant cause and shapes treatment.
Research in Pakistani patients tied FokI and BsmI polymorphisms in the Vitamin D receptor gene to this recessive form of microcephaly; carrier testing is also covered.
Both head size and brain volume are reduced in this recessive form of microcephaly. There is no cure; physical, occupational and speech therapy can help.
TUBGCP4 keeps cell division stable; when it fails, MCC3 brings small head size, developmental delay and progressive vision loss from retinal atrophy.
Whole exome sequencing can reveal the variants behind this syndrome's microcephaly, corpus callosum hypoplasia, intellectual disability and facial features.
Small head size, intellectual disability, sensorineural hearing loss, epilepsy and abnormal muscle tone define this syndrome; DNA analysis helps pin down its cause.