Decoding BBS2-Related Disorders: Unraveling the Genetic Mysteries
Faulty cilia from BBS2 mutations can bring retinitis pigmentosa, kidney abnormalities, obesity and polydactyly, with carrier and prenatal testing available.
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
Understanding, Diagnosing, and Using Genetic Testing for BCS1L-Related Disorders
GRACILE syndrome, Leigh syndrome and complex III deficiency all trace to BCS1L mutations that impair mitochondria; biochemical tests and imaging narrow the diagnosis.
Decoding BEST1-Related Disorders: Genetic Testing for Diagnosis and Management
Lipofuscin building up in the retinal pigment epithelium links BVMD, AVMD, bestrophinopathy and retinitis pigmentosa, which OCT and BEST1 sequencing help identify.
Understanding, Diagnosing, and Using Genetic Testing for BH4-Deficient Hyperphenylalaninemia
Low tetrahydrobiopterin leaves phenylalanine high in the blood, which can bring developmental delay and seizures. Blood and genetic tests confirm the cause.
Bilateral Breast Cancer: TP53, CDH1 and BLM Variants
Cancer in both breasts makes up 2-5% of cases and may be synchronous or metachronous. The page covers imaging, biopsy and testing for TP53, CDH1 and BLM variants.
Decoding Birk-Barel Intellectual Disability Dysmorphism Syndrome: Understanding, Diagnosis, and Genetic Testing
KCNK9 mutations cut TASK-3 function, leading to intellectual disability, seizures and delayed motor skills. Targeted, exome and genome sequencing are compared.
Decoding Platelet Type Macrothrombocytopenia: Understanding, Diagnosing, and Utilizing Genetic Testing
Large platelets and low platelet counts lead to easy bruising and bleeding. SLFN14 and GALE variants, PT-VWD findings and inheritance patterns are covered.
Decoding BMP4-Related Syndromic Microphthalmia: Understanding, Diagnosing, and Using Genetic Testing
Small eyes, coloboma, cataracts and glaucoma follow mutations in BMP4. Sequence analysis and deletion/duplication testing confirm the diagnosis and guide counseling.