Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R1: The Role of Genetic Testing
Carrier parents face a 25% chance per child of passing on LGMDR2R1, which weakens the muscles around the hips and shoulders and is linked to the POPDC3 gene.
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
Analyzing Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y: Genetic Testing Unveiled
Two mutated copies of POPDC3 underlie LGMD2Y, whose hip and shoulder weakness testing can confirm while carrier screening traces the mutation through a family.
Autosomal Recessive Spastic Paraplegia Type 78: A Genetic Odyssey
ATP13A2 mutations disturb lysosomal function and bring on the leg spasticity and weakness of SPG78; testing confirms the diagnosis and clarifies carrier status.
Breaking Barriers with Bardet-Biedl Syndrome 22: The Role of Genetic Testing
Symptoms of BBS22 vary in kind and in onset, from retinal degeneration to cognitive impairment, so care rests on lifelong monitoring by several specialties.
Bockenheimer Syndrome: Venous Malformations and Testing
Blue lesions on the skin and gastrointestinal tract mark Bockenheimer Syndrome, a rare vascular disorder, and genetic testing can point to the mutations behind it.
Breaking Barriers in Bone Marrow Failure Syndrome 3: The Role of Genetic Testing
A homozygous mutation in the Oncostatin M (OSM) gene disrupts blood cell production in bone marrow failure syndrome 3, bringing anemia, infection risk and bleeding.
CRMCC2 (CTC1 Gene): Symptoms and Diagnosis
A CTC1 gene change disrupts telomere maintenance and drives neurological and retinal features of CRMCC2; testing can confirm the diagnosis and inform family planning.
Charting the Complexities: Understanding Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b
GDAP1 mutations underlie this axonal form of Charcot-Marie-Tooth disease, with both recessive and dominant inheritance reported; testing confirms the diagnosis.