Congenital Myasthenic Syndrome 15 Signs and DOK7 Testing
A DOK7 variant underlies CMS15, with severity from mild weakness to respiratory problems. Confirming it early separates CMS15 from similar disorders and shapes treatment.
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
Congenital Myasthenic Syndrome 7: Unraveling Genetic Threads to Better Understand and Manage the Disorder
Childhood muscle weakness from RAPSN mutations ranges from mild to severe. Besides confirming CMS7, testing informs treatment, likely progression and family planning.
Cracking the Code: Understanding Congenital Sideroblastic Anemia-B-cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Severe microcytic anemia, B-cell immunodeficiency, periodic fever and developmental delay define CSABIPFDD Syndrome; testing confirms it and guides treatment.
Decoding Developmental and Epileptic Encephalopathy, 25 with Genetic Testing
Advanced sequencing can pinpoint STXBP1 mutations associated with DEE25, and comparing genotype with symptoms helps predict severity and select medications.
Decoding Developmental and Epileptic Encephalopathy, 26: The Role of Genetic Testing
Finding the mutation behind DEE26 shows whether it was inherited or arose de novo, information that shapes treatment choices and a family's recurrence risk.
Decoding Developmental and Epileptic Encephalopathy, 27: The Role of Genetic Testing
Genetic variants turned up in 11.7% of 366 Chinese neonates with encephalopathy in one study, linking DNA changes to the seizures and delays seen in DEE27.
Decoding Developmental and Epileptic Encephalopathy, 28: The Role of Genetic Testing
GRIN1 mutations disturb brain function and produce the severe developmental delay, intellectual disability and varied seizure types recorded in DEE28.
Deciphering Diamond-Blackfan Anemia 13: The Role of Genetic Testing in Unraveling Its Mysteries
Aberrant splicing from an RPS7 variant connects DBA13 with spontaneous remission in some patients and with meningocele, which affects how treatment is planned.