Primary Ciliary Dyskinesia 34: Unveiling the Genetic Threads of a Complex Lung Disease
Recurrent lung infections, bronchiectasis and sometimes situs inversus mark PCD34; gene testing offers a non-invasive alternative when microscopy is inconclusive.
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
Primary Ciliary Dyskinesia 35: Unveiling the Genetic Mysteries Behind a Rare Respiratory Disorder
Gene changes behind PCD35 impair cilia and, research suggests, sinus development; screening of newborns or prenatal samples in affected families is discussed.
Primary Familial Dilated Cardiomyopathy: Harnessing Genetic Testing for a Healthier Heart
An enlarged, weakened left ventricle runs in families with PFDC; next-generation sequencing can name the mutation, flag at-risk relatives and shape care.
Probing Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 3: Unraveling the Genetic Threads
Ptosis and restricted eye movement trace back to TK2 mutations that leave multiple mtDNA deletions; confirming them separates PEO from other neuromuscular disease.
Revealing the Shadows: Genetic Testing for RCBTB1-related Retinopathy
Changes in the RCBTB1 gene affect the retina and can cause vision to decline over time. Identifying the mutation supports early monitoring and genetic counseling.
Revealing the Complexities of Retinitis Pigmentosa 76: The Role of Genetic Testing
Carrier testing, prenatal testing and preimplantation diagnosis all rest on knowing the RP76 mutation, which also informs how closely vision is monitored.
Revealing the Roots: Genetic Testing for Retinitis Pigmentosa 77
Genetic subtype matters when weighing the effects of vitamin A and E on progression, and electroretinogram biomarkers have been used to predict how RP77 advances.
Seckel Syndrome 10: Unraveling the Genetic Threads for Better Management
ZNF335 mutations disrupt brain development in this form of primary autosomal recessive microcephaly, affecting growth, cognition and anesthesia planning for surgery.