Sleep Myoclonus: Causes, Sleep Studies and Gene Variants
Involuntary muscle jerks during sleep can overlap with other disorders, so EEG and polysomnography come first; genetic testing may identify LMNB2 or SCN1A variants.
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
Decoding the Genetic Mysteries of Autosomal Dominant Spastic Paraplegia
Weakness and stiffness in the legs follow damage to upper motor neurons; the SPAST, ERLIN2 and ALDH18A1 genes have been linked to this dominantly inherited form.
Unlocking the Mystery of Spastic Tetraparesis: Genetic Testing and Diagnosis
Stiffness and weakness in all four limbs define spastic tetraparesis. Case reports tie it to mucopolysaccharidosis type IV and a mitochondrial DNA variant.
SPATA7-Related Disorders: Vision Loss and Gene Testing
Photoreceptor cells depend on the protein encoded by SPATA7, and faults in that gene cause Leber congenital amaurosis, juvenile retinitis pigmentosa and early cataracts.
Unlocking the Mysteries of Spherocytosis: Genetic Testing for Diagnosis and Management
Red blood cells turn spherical and fragile, bringing anemia, jaundice and an enlarged spleen; next-generation sequencing reads ANK1, SPTB and PKLR together to confirm it.
Decoding the Enigma of Sudden Unexplained Death: Genetic Testing as a Key
Cited studies link sudden unexplained death to cardiac and seizure gene mutations, with causative variants found in 19.8% of sudden cardiac death cases in one series.
Decoding TMEM67-Related Disorders: A Journey Through Genetic Testing
Faulty primary cilia connect Meckel-Gruber syndrome, with kidney cysts and polydactyly, to Joubert syndrome and its molar tooth sign. Sequencing confirms TMEM67 variants.
Unraveling the Mysteries of Xanthinuria Type II: Genetic Testing for Diagnosis and Management
Deficiency of xanthine dehydrogenase and aldehyde oxidase lets xanthine accumulate, causing kidney stones, kidney failure or muscle pain in xanthinuria type II.