Congenital Myasthenic Syndrome: Unlocking Mysteries with Genetic Testing
Muscle weakness and fatigue follow faulty nerve-to-muscle signaling. Testing can pinpoint the mutation, separate CMS from myasthenia gravis and guide family 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
Cracking the Code: Genetic Testing for Congenital Nonbullous Ichthyosiform Erythroderma
Redness and fine white scaling appear at or soon after birth in this recessive ichthyosis. NIPAL4 testing helps separate it from other forms of ichthyosis.
Charting the Course: Genetic Testing in Congenital Omphalocele
Abdominal organs protrude through the navel in roughly 1 in 4,000 to 7,000 births. Ultrasound finds it early, surgery repairs it, and testing looks for linked syndromes.
Cracking the Code: Genetic Testing and Continuous Spike-Waves During Slow Sleep
Epileptiform activity during slow-wave sleep can set back a child's language, cognition and behavior; testing may reveal predispositions to CSWS and shape care.
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1B: Cracking the Genetic Code
Recessive MYH3 variants separate CPVSF1B from Escobar variant multiple pterygium syndrome, a distinction that matters for contractures, pterygia and skeletal fusions.
Craniopharyngioma: Symptoms, PBRM1 and BAP1 Genes
A benign tumor near the pituitary gland can disturb hormones, vision and growth; PBRM1 and BAP1 mutations are discussed for prognosis and treatment choices.
Cracking the Code: Genetic Testing and Cushing Syndrome
Excess cortisol brings weight gain, hypertension and osteoporosis; mutations in PRKAR1A, PDE11A, PDE8B and ARMC5 connect adrenal hyperplasias to Cushing syndrome.
Cutaneous Mastocytosis: Illuminating the Genetic Pathway to Better Diagnosis and Treatment
Mast cells build up in the skin and cause itching, flushing and sometimes anaphylaxis; KIT mutation testing supports a diagnosis of cutaneous mastocytosis.