Mapping Myopathy: Understanding Tubular Aggregate Myopathy 2 through Genetic Testing
Clumps of tubular aggregates inside muscle fibers accompany weakness in TAM2, which is linked to STIM1 mutations such as L96V that disturb calcium handling.
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
Navigating Nemaline Myopathy 9: The Role of Genetic Testing in Understanding and Managing This Rare Disorder
Severe forms linked to TNNT1 mutations bring arthrogryposis and respiratory trouble, and the abnormal troponin T isoforms they produce explain part of the mechanism.
Nephronophthisis 18: Navigating the Genetic Frontier of a Rare Kidney Disorder
Compound heterozygous splice site variants in SCLT1 have been proposed as a locus for Senior-Løken syndrome, which pairs failing kidneys with retinal abnormalities.
Navigating Nephrotic Syndrome, Type 10: The Role of Genetic Testing
Proteinuria, hypoalbuminemia and edema appear early in this congenital kidney disorder, and testing separates its subtypes, including the Finnish type seen in one case.
Nephrotic Syndrome, Type 9: Proteinuria and PCSK9
Excess protein escapes into the urine, and research links PCSK9 to impaired megalin function in the kidney proximal tubules, worsening proteinuria in this disorder.
Neurodegeneration with Brain Iron Accumulation 6: Navigating the Genetic Testing Terrain
Deferoxamine, deferiprone and other iron chelators, plus gene therapy trials, are set out alongside what a confirmed NBIA6 mutation means for care and planning.
Neuronopathy, Distal Hereditary Motor, Type 2D: Deciphering the Genetic Code for Better Management
As motor neuron signaling fails, distal muscles in the hands and feet weaken; pinpointing the mutation guides therapy choices and counseling for relatives.
What Causes HSN1F? The NOG Gene Explained
Progressive loss of sensory nerves brings numbness, pain and, in severe cases, ulcerations and infections; the page ties HSN1F to mutations in the NOG gene.