Neuronal Ceroid Lipofuscinosis: Symptoms and Genetic Testing
Vision loss, seizures and motor decline in childhood follow lipopigment buildup in the brain; an MFSD8 variant shows how symptoms differ within one family.
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
Okur-Chung Neurodevelopmental Syndrome: Unlocking the Mysteries with Genetic Testing
Developmental delays and intellectual disability trace to CSNK2A1 mutations in OCNDS; testing can distinguish it from other neurodevelopmental diagnoses.
Understanding Optic Atrophy 11: The Role of Genetic Testing in Diagnosis and Management
Progressive optic nerve degeneration lowers visual acuity, often starting in childhood or adolescence; genetic testing separates OPA11 from other optic neuropathies.
Genetic Testing: A Gateway to Understanding Orofaciodigital Syndrome XV
Ciliary protein regulation fails when TMEM107 is mutated in OFDXV, producing facial, oral cavity and limb abnormalities; a confirmed diagnosis guides management.
Patterned Macular Dystrophy 3: Genetic Testing as a Beacon of Hope
Central vision loss and blurring follow a build-up of lipofuscin-like material in the retina; PMD3 is usually inherited in an autosomal dominant pattern.
Peeling Back the Layers: Understanding Peeling Skin Syndrome 5
Continuous shedding of the outer skin layer, mainly on hands and feet, defines PSS5; clinical, histological and genetic exams separate it from similar syndromes.
Genetic Testing and Its Role in Understanding PERCHING Syndrome
An acronym for pulmonary, endocrine, renal, cardiac, hearing, immune, neurological and gastrointestinal anomalies, this rare syndrome has no clearly identified cause.
Periventricular Nodular Heterotopia 7: Promising Paths in Genetic Testing
Seizures and developmental delay follow nodules left along the ventricular walls when neurons fail to migrate; NEDD4L mutations help confirm PVNH7.