Mapping Myopathy: Understanding Distal Myopathy with Rimmed Vacuoles Through Genetic Testing
Progressive weakness in the distal limb muscles comes with the vacuoles seen under the microscope, and DNA analysis separates it from similar myopathies.
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
Mapping Myopia: The Role of Genetic Testing in Autosomal Dominant Myopia 25
Linkage studies in Pennsylvania Amish families point to chromosomes 12q15, 8q21.3 and 5p15.33 in this dominant form of nearsightedness, shaping how it is followed.
Mapping the Mysteries of MYPN-related Myopathy: The Role of Genetic Testing
Explore the impact of genetic testing on MYPN-related myopathy, a rare muscle disorder, from early diagnosis to personalized treatment and potential therapies.
Nasopharyngeal Carcinoma Susceptibility: Unraveling Genetic Mysteries
Genetic variants, Epstein-Barr Virus infection and endothelial cell behavior all feed into who develops NPC, and multiomics research is mapping how they interact.
Nephronophthisis 20: Navigating the Genetic Maze of a Kidney Disorder
Inherited in an autosomal recessive pattern, this kidney disorder often reaches end-stage renal disease within two decades, alongside polyuria, polydipsia and anemia.
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy: A Genetic Testing Journey into Childhood-Onset Mysteries
Ataxia, dystonia and limited eye movement begin in childhood; research ties the condition to loss of the autophagy adaptor SQSTM1/p62, which testing can identify.
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language: Decoding the Genetic Puzzle
A recessive splicing variant in HECW2 partly disables the gene and has been linked to drug-resistant epilepsy, low muscle tone and absent speech in children.
Neuronal Ceroid Lipofuscinosis: Symptoms and Genetic Testing
Vision loss, seizures and motor decline in childhood follow lipopigment buildup in the brain; an MFSD8 variant shows how symptoms differ within one family.