Decoding the Genetics of Pulmonary Arterial Hypertension with Congenital Heart Disease
When pulmonary arterial hypertension accompanies a congenital heart defect, SOX17, FLNA and BMPR2 findings guide monitoring, drug safety and treatment choices.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Decoding the Genetic Mysteries of Idiopathic Pulmonary Fibrosis
Discover the role of genetic testing in diagnosing Idiopathic Pulmonary Fibrosis (IPF), its benefits, and how it can help patients manage this complex lung disease.
Decoding the Genetic Puzzle: Understanding Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia
ALK1 mutations tie hereditary hemorrhagic telangiectasia to raised lung artery pressure, and an ACVRL1 case report shows how a specific finding steered treatment.
Decoding Pulmonary Lymphangiectasia: A Comprehensive Guide
Dilated lymphatic vessels in the lungs cause respiratory distress and recurrent infections; CT, MRI and biopsy confirm it, while testing can point to Noonan syndrome.
Cracking the Code: Understanding and Diagnosing Recurrent Fever through Genetic Testing
Repeated fevers with joint pain and inflammation may trace to MEFV mutations in Familial Mediterranean Fever or TNFRSF1A mutations in TRAPS.
Decoding Renal Hypoplasia/Aplasia: A Comprehensive Guide to Genetic Testing and Management
Underdeveloped or absent kidneys can lead to chronic kidney disease and hypertension; imaging, lab tests and DNA analysis inform diagnosis, treatment and family planning.
Decoding the Mystery of Early-Onset Severe Retinal Dystrophy: Understanding, Diagnosing, and Using Genetic Testing
Childhood forms such as Leber Congenital Amaurosis have been tied to LRAT, ABCA4 and CRB1 variants, while voretigene neparvovec-rzyl targets RPE65-related disease.
Unlocking the Mystery of Severe Postnatal Growth Retardation: Genetic Testing to the Rescue
Low birth weight, short stature and delayed milestones have been linked to UPD(20)mat, ring chromosome 3 and a 14q32.31-q32.33 deletion found by chromosome microarray.