Understanding, Diagnosing, and Using Genetic Testing for Neonatal Respiratory Distress
Underdeveloped lungs leave a newborn struggling to breathe. Chest X-rays and pulse oximetry confirm it, while genetic testing can point to an inherited cause.
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
Unlocking the Mysteries of Atypical Neurodegeneration with Brain Iron Accumulation 1
Movement problems, psychiatric changes and speech or gait difficulty vary case by case in ANBIA1; COASY mutations and MRI findings anchor the diagnosis.
Decoding the Enigma of Congenital Neuromuscular Disease with Uniform Type 1 Fiber
Hypotonia, weakness and delayed motor milestones define CNMDU1; muscle biopsy studies of core formation and RYR1 research explain what genetic testing adds.
Cracking the Genetic Code: Understanding Neuropsychiatric Disorders and Early-Onset Cataracts
Case reports on Fahr's disease, fragile X premutation and a PSEN1 mutation show how testing can connect psychiatric symptoms with cataracts appearing early.
Decoding the Enigma of Niemann-Pick Disease: Understanding, Diagnosing, and Genetic Testing for the Intermediate, Protracted Neurovisceral Variant
Lipids collect in the liver, spleen and brain in this intermediate form of Niemann-Pick type C, and NPC1 or NPC2 testing confirms it and identifies carriers.
Decoding Niemann-Pick Disease Type D: A Guide to Understanding, Diagnosing, and Genetic Testing
Enlarged liver and spleen, swallowing difficulty and poor muscle coordination appear in NPD-D, which is traced to NPC1 or NPC2 mutations through DNA sequencing.
NIK Deficiency: Features and Genetic Diagnosis
Encephalopathy, Hermansky-Pudlak syndrome, prenatal cardiomyopathy and persistent EV-HPV infections are presented here as features of this rare disorder.
Decoding the Genetic Puzzle: Understanding and Diagnosing Susceptibility to Obesity (BMIQ12)
Monogenic causes such as MC4R, LEP and POMC, obesity-related syndromes, and gene-environment interactions each shape risk. Appetite-related variants are also covered.