Unlocking the Mysteries of L1 Syndrome: The Role of Genetic Testing
Affecting mainly males, L1 syndrome ranges from mild intellectual disability to severe motor impairment and hydrocephalus, with L1CAM sequencing used to confirm a case.
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
Lamellar Ichthyosis: TGM1 Gene, Scaling and Care
Thick, plate-like scales and ectropion mark this recessive skin disorder caused by TGM1 mutations. Emollients, keratolytics and retinoids are also covered.
Leveraging Genetic Insights: A New Dawn for Lennox-Gastaut Syndrome Management
Multiple seizure types, an abnormal EEG and cognitive dysfunction define this childhood epilepsy, with SCN1A, SCN2A and GABRB3 variants implicated.
Lethal Congenital Contracture Syndrome: Unlocking Mysteries Through Genetic Testing
Severe joint contractures and muscle atrophy trace to GLE1, a gene involved in RNA processing, with recurrence risk and mouse findings summarized.
Unlocking the Mysteries of Limb-Girdle Muscular Dystrophy with Genetic Testing
Weakness in the shoulder and hip girdles usually starts in late childhood or early adulthood; with over 30 types, DNA analysis names the subtype behind the symptoms.
Lymphoproliferative Disorder: Unlocking the Mysteries with Genetic Testing
Excess lymphocyte production can be benign or malignant; KU haploinsufficiency and Ikaros malfunction are linked to LPD, with testing guiding diagnosis and treatment.
Malignant Migrating Partial Seizures of Infancy: Decoding the Genetic Puzzle
Treatment-resistant seizures that move around the brain begin in the first six months of life; CACNA1A and SCN8A mutations help explain MMPSI and guide care.
Mapping the Mysteries of Mandibuloacral Dysplasia: Genetic Testing Unveiled
Skeletal changes such as acro-osteolysis and an underdeveloped jaw, plus poikiloderma, mark MAD; a homozygous LMNA variant is linked to type A.