Congenital Myasthenic Syndrome 19: Glycosylation Genes
Glycosylation genes feature strongly in CMS19, and variant frequency differs by population. Testing confirms a diagnosis that is easily missed and guides management.
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
Cracking the Code: Understanding Congenital Secretory Sodium Diarrhea 8 through Genetic Testing
A newborn with unexplained diarrhea may carry a SPINT2 mutation; CSSD8 blocks intestinal sodium absorption, and testing supports early diagnosis and electrolyte care.
Congenital Clarity: Unraveling Congenital Stationary Night Blindness 1H through Genetic Testing
Inherited in an X-linked recessive pattern, CSNB1H mainly affects males and does not progress; carrier testing, myopia and strabismus findings shape family planning.
Cowden Syndrome 7: Unraveling the Genetic Threads of a Complex Disorder
Benign and malignant tumors, skin lesions and developmental differences mark CS7; because PTEN changes pass on dominantly, relatives can be tested and monitored.
Craniosynostosis 6: Unraveling the Genetic Tapestry of Skull Development
Researchers have tied 57 genes to craniosynostosis, and next-generation sequencing is described as the route to pinpointing the change behind this subtype.
Cracking the Code: Genetic Testing and Its Role in Cutis Laxa, Autosomal Dominant 3
Explore how genetic testing aids in diagnosing Cutis Laxa, Autosomal Dominant 3, involving the ALDH18A1 gene, leading to early intervention and personalized care.
Decoding DDX41-Related Hematologic Malignancy Predisposition Syndrome: The Role of Genetic Testing
Inherited changes in DDX41 disrupt blood cell production in the bone marrow and raise the risk of myelodysplastic syndromes and acute myeloid leukemia.
Decoding the Dilemma: Dehydrated Hereditary Stomatocytosis 2 and the Role of Genetic Testing
PIEZO1 mutations disturb ion transport across the red cell membrane, dehydrating cells and causing hemolytic anemia with fatigue, jaundice and splenomegaly.