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.
HBB mutations cut beta-globin production and unbalance hemoglobin, bringing anemia; carrier screening, prenatal diagnosis and PGD with STR haplotyping are described.
Reduced beta-globin production causes anemia and, for some, transfusion dependence. HBB testing supports carrier counseling, treatment and prenatal choices.
A leucine-to-proline change in the beta-globin gene reduces hemoglobin in this rare disorder. Genetic testing aids carrier identification and severity assessment.
Blood tests can suggest this severe HBB-related disorder, but confirmation needs genetic testing. Carrier screening and prenatal testing options are also covered.
Hearing loss and twisted hair shafts (pili torti) come with BCS1L mutations that impair complex III. Carrier screening and early diagnosis both rely on BCS1L results.
Explore Blood Group Lutheran Null, its diagnosis, and the role of genetic testing in understanding this rare blood group for better management and treatment strategies.
Clouding of the eye's lens joins hearing loss, kidney abnormalities and neck growths in branchiootorenal syndrome with cataract, where testing helps avoid misdiagnosis.
Diagnosed in women under 45, early-onset breast cancer has been linked in recent studies to a novel PFKM gene and a BRCA1 mutation in a woman of Senegalese descent.