Hereditary Spastic Paraplegia: Harnessing the Power of Genetic Testing
Progressive leg weakness and stiffness follow degeneration of spinal cord fibers. Over 80 genetic types exist, and multi-gene testing can reveal SPG7-SCN4A interactions.
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
Hermansky-Pudlak Syndrome: Unraveling Genetic Mysteries for Better Diagnosis and Management
Several genes can cause this syndrome, each giving a slightly different mix of albinism, bleeding problems and lung disease. One form clusters in central Puerto Rico.
Homocystinuria without Methylmalonic Aciduria Types
Three subtypes, cblE, cblG and cblD-variant 1, affect vitamin B12 handling and produce anemia, encephalopathy and developmental delay from raised homocysteine.
Harnessing the Power of Genetic Testing for Hyaline Body Myopathy
Muscle weakness and respiratory difficulty in this rare myopathy have been linked to the FLNC Ala1186Val variant, which affects protein stability and aggregation.
Harnessing Genetic Insights: Understanding Hyperprolinemia and Its Impact on Kidney Function
Proline accumulates when proline oxidase is deficient, with effects on the nervous system and possibly the kidneys. PRODH testing and dietary management are covered.
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome: Harnessing Genetic Testing for Better Insights and Management
Sparse hair, lymphedema, telangiectasia and kidney defects arise from SOX18 mutations; musculoskeletal findings and poor wound healing widen the HLTRS picture.
Harnessing Hope: Genetic Testing and Hypotrichosis Simplex
Childhood hair loss without other physical abnormalities marks hypotrichosis simplex; a homozygous LSS mutation in two siblings points to recessive inheritance.
Ichthyosis: Types, Genetic Causes and DNA Testing
Several inherited forms of ichthyosis share dry, scaly skin; identifying the mutation behind a given case supports diagnosis, tailored care and family planning.