Unlocking the Mysteries of Nemaline Myopathy 7: Genetic Testing and Diagnosis
Discover the importance of genetic testing in diagnosing Nemaline Myopathy 7, guiding treatment decisions, and assisting in family planning for this rare disorder.
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
Decoding Neonatal Hypotonia: A Guide to Understanding, Diagnosing, and Genetic Testing
A floppy newborn shows reduced resistance to passive movement, which may be neurological, metabolic or genetic; next-generation sequencing solved 62.9% of one cohort.
Nephronophthisis 14: Kidney Scarring and Retinal Change
Progressive scarring of kidney tissue, sometimes with retinal degeneration, makes this subtype hard to spot; DNA analysis can confirm it when a biopsy is unclear.
What Genetic Testing Adds in Neurodevelopmental Delay
Causes described here range from CSNK2B intron variants to an unbalanced chromosome 10 and 22 translocation, found by exome sequencing and chromosomal microarray.
Unlocking the Genetic Puzzle of Nonsyndromic Cleft Lip and Palate
About 20% of the genetic contribution to NSCLP comes from a small set of genes. IRF6 polymorphisms, a DLX4 variant found by NGS and SNP analysis are described.
Unlocking the Mystery of Potassium-Sensitive Normokalemic Periodic Paralysis
Episodes of muscle weakness occur even when blood potassium is normal in NormoPP, a condition linked to SCN4A sodium channel mutations. Diagnosis steps are covered.
Decoding the Genetic Mysteries of Epithelial Ovarian Cancer
Germline BRCA1 and BRCA2 results and somatic tumor profiling point toward options such as PARP inhibitors for the most common form of ovarian cancer.
Decoding the Genetic Mysteries of Ovarian Carcinoma
In ovarian carcinoma, the CYP1B1 rs1056836 polymorphism, USP13 overexpression and chromosomal instability shape how testing guides surveillance and therapy.