Joubert Syndrome with Ocular Defect: The Genetic Testing Frontier
Nystagmus, strabismus and retinal dystrophy can accompany the molar tooth sign; exome sequencing in one family identified variants in the CPLANE1 gene.
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
Keratoconus: Unraveling the Genetic Threads of a Vision-Threatening Disorder
Thinning of the cornea into a cone shape distorts vision. A TGFBI variant found in a Chinese family adds to what is known about the genetics of keratoconus.
Mapping Macrothrombocytopenia: Genetic Testing's Role in Diagnosis and Management
A single MYH9 mutation can cause low platelet counts and giant platelets; testing confirms the diagnosis and guides monitoring for nephritis or hearing loss.
Madras Motor Neuron Disease Symptoms and Diagnosis
Upper and lower motor neuron weakness with cranial nerve involvement can look like Brown–Vialetto–Van Laere syndrome; genetic testing tells the two apart.
Mapping the Mysteries of Medullary Thyroid Carcinoma: The Role of Genetic Testing
Unlock the role of genetic testing in diagnosing medullary thyroid carcinoma. Discover how RET mutations like M918V influence early detection and personalized treatment.
Mapping Meier-Gorlin Syndrome: The Role of Genetic Testing
Microtia, patellar aplasia and growth retardation mark this rare disorder, which is linked to 13 genes involved in DNA replication and confirmed by gene testing.
Melorheostosis with Osteopoikilosis: Unraveling the Genetic Mysteries
Flowing hyperostosis alongside small radiodense bone spots can cause pain, deformity and reduced function, and gene testing separates it from similar disorders.
Metaphyseal Anadysplasia: Mapping the Mysteries with Genetic Testing
Bowed legs, short stature and delayed motor skills often appear in infancy. Genetic testing helps tell metaphyseal anadysplasia apart from other skeletal dysplasias.