Genetic Insights: Understanding Combined Pulmonary Fibrosis-Emphysema Syndrome
Scarred lung tissue and destroyed air sacs occur together in CPFE, bringing breathlessness, chronic cough and reduced exercise capacity, with outcomes close to IPF.
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
Congenital Pontocerebellar Hypoplasia Type 1: Diagnosis
Underdevelopment of the pons and cerebellum brings severe developmental delay and motor problems. MINPP1 and inositol metabolism are part of the genetic picture.
Cracking the Code: Genetic Testing for Congenital Smooth Muscle Hamartoma
Smooth muscle fibers overgrow to form a thickened patch at birth. Ultrasound and genetic markers help separate congenital smooth muscle hamartoma from similar lesions.
Cracking the Code: Genetic Testing and Congenital Stationary Night Blindness
Rod cells that cannot process dim light leave night vision impaired from birth. Whole genome sequencing found a CACNA1F structural variant, sharpening CSNB diagnosis.
Conotruncal Heart Malformations: Unlocking the Mysteries of Genetic Testing
A novel MED12 variant in two siblings widens the phenotype tied to conotruncal heart malformations, such as tetralogy of Fallot, transposition and truncus arteriosus.
Diagnosing Deficiency of 3-Hydroxyacyl-CoA Dehydrogenase: The Genetic Testing Revolution
Autosomal recessive and caused by HADHA mutations, this fat-metabolism disorder brings hypoglycemia, muscle pain and liver problems, managed mainly by diet.
Decoding Delta-Beta-Thalassemia: The Role of Genetic Testing
Lower delta and beta globin production raises fetal hemoglobin and causes anemia ranging from mild to severe; sequencing and PCR identify HBB cluster mutations.
Decoding DICER1 Syndrome: Genetic Testing as a Beacon of Hope
Tumors such as pleuropulmonary blastoma, cystic nephroma and ovarian tumors are more likely with a DICER1 mutation, often appearing in children and young adults.