Congenital Myopathy 2B: Severe Infantile Muscle Weakness
Severe weakness, delayed motor development and breathing trouble begin in infancy. Sequencing finds the causative mutation and supports carrier testing and care planning.
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
Severe Infantile Congenital Myopathy 2C: RYR1 Testing
Poor muscle tone, feeding problems and delayed milestones appear early. RYR1 testing confirms it and underpins carrier, prenatal and preimplantation testing.
Unlocking the Secrets of Congenital NAD Deficiency Disorder: Understanding, Diagnosing, and Genetic Testing
NAD production falls when NADSYN1 or NMNAT1 is mutated, limiting energy and DNA repair. Developmental delay, seizures and weakness can follow; testing confirms the cause.
Decoding the Complexities: Understanding Cortical Dysplasia and the Role of Genetic Testing
Enlarged ventricles, an underdeveloped corpus callosum and abnormal cortical development mark CDCBM12, linked to DEPDC5 mutations; MRI and gene testing are covered.
Deutetrabenazine Response: Pharmacogenomic Testing
Prescribed for Huntington's disease and tardive dyskinesia, deutetrabenazine works differently in each person; a blood or saliva sample reads the genes involved.
Unlocking the Mysteries of Developmental and Epileptic Encephalopathy 31B: Understanding, Diagnosing, and Genetic Testing
Two copies of a mutated SCN3A gene cause DEE31B, disrupting sodium channels in nerve cells; when both parents carry it, each pregnancy carries a 25% chance.
Understanding, Diagnosing, and Using Genetic Testing for Diaphragmatic Hernia 4 with Cardiovascular Defects
An opening in the diaphragm lets abdominal organs push into the chest alongside septal defects; GATA4 testing confirms this autosomal dominant disorder.
Disrupted Sleep-Wake Cycle with Developmental Delay
Daytime sleepiness, trouble falling asleep and night waking appear alongside delayed milestones and learning difficulties, assessed with MRI, CT scans and blood tests.