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.
Excess mitophagy follows FBXL4 mutations, as BNIP3 and BNIP3L build up and deplete mitochondrial DNA, leading to cardiomyopathy, weak muscles and developmental delay.
Weakness begins in the muscles farthest from the body's center, such as those of the hands and feet, and finding the causative mutation supports earlier diagnosis.
Families face a diagnosis that is fatal before or soon after birth: NEK9 changes disrupt cell division and bone formation, producing severe skeletal malformations.
Steroids often fail in this form, and monogenic causes were found in about 23.68% of children with steroid-resistant disease, which can steer care toward other options.
Swelling around the eyes, feet and ankles follows heavy protein loss in the urine; exome sequencing can name the variant behind it, though genomic data remain uneven.
Because steroid treatment fails in this form, whole exome sequencing carries the diagnostic weight; monogenic causes turned up in 23.68% of the children studied.
A single point mutation can disturb protein function and produce developmental delay, distinctive facial features, heart defects and hip dysplasia in one syndrome.
Intellectual disability, vision problems and heart defects combine differently in each person with NDBEH, so gene findings help separate it from similar disorders.