Hereditary Spastic Paraplegia 44: Unraveling the Genetic Threads
Whole exome sequencing reads the protein-coding genome to tell HSP 44 apart from similar neurological disorders and to inform families about inheritance risk.
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
Hereditary Spastic Paraplegia 45: Harnessing Genetic Testing to Unravel Complexities
Explore how genetic testing aids early diagnosis and treatment of Hereditary Spastic Paraplegia 45, focusing on COQ7 gene mutations and personalized care possibilities.
Hereditary Thrombophilia Due to Congenital Histidine-Rich Glycoprotein Deficiency: Navigating the Genetic Testing Frontier
Too little histidine-rich glycoprotein disturbs clotting and raises thrombosis risk, bringing headaches, limb swelling and skin discoloration. Inheritance is recessive.
Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis: Unraveling the Genetic Threads
Manganese overload from SLC30A10 mutations can bring dystonia, a high red blood cell count and cirrhosis. Genetic testing and chelation therapy are covered.
Harnessing Genetic Testing for Hypertrophic Cardiomyopathy 13: A Path to Precision Care
Thickening of the heart muscle in HCM13 runs in families; the page covers how pathogenic variants are identified and how relatives are assessed.
How Hypertrophic Cardiomyopathy 14 Is Inherited
Chest pain, breathlessness and palpitations can accompany the thickened heart walls of HCM14, which passes down in an autosomal dominant pattern.
Harnessing Genetics for Hypertrophic Cardiomyopathy 15: A Path to Precision Medicine
MYBPC3 mutations sit behind HCM15, with the DES gene and physical activity shaping severity; family screening can find relatives without symptoms.
Harnessing Genetic Insights: Understanding Hypokalemic Periodic Paralysis, Type 2
Episodes of muscle weakness tied to low potassium trace back to SCN4A, a muscle sodium channel gene. Inheritance is autosomal dominant, and testing confirms it.