Sifting Through Senior-Loken Syndrome 9: Genetic Testing as a Guiding Light
Care is shared between nephrologists, ophthalmologists and geneticists for this nephronophthisis-related ciliopathy, which has been linked to NPHP1 and other genes.
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
Severe Hypotonia, Strabismus and Cardiac Septal Defects
Marked muscle weakness, delayed motor and cognitive milestones, misaligned eyes and heart septal defects occur together in a syndrome genetic testing can pin down.
Severe Intellectual Disability-Corpus Callosum Agenesis
Intellectual disability, a missing corpus callosum, facial differences and cerebellar ataxia define this syndrome, and testing can confirm it and clarify recurrence risk.
Sideroblastic Anemia 3: Unraveling the Genetic Threads
Iron-loaded mitochondria in immature red cells signal sideroblastic anemia 3, where ALAS2 variants disturb heme synthesis; a synonymous change can alter mRNA splicing.
Skeletal Overgrowth-Craniofacial Dysmorphism-Hyperelastic Skin-White Matter Lesions Syndrome: Unveiling the Genetic Mysteries
A PDGFRB mutation reported in Kosaki overgrowth syndrome sits behind this rare mix of skeletal overgrowth, hyperelastic skin and white matter lesions.
Solving the Mystery: Genetic Testing for Skin Creases, Congenital Symmetric Circumferential, 2
Symmetrical creases encircling the body from birth define CSCSC2, and a de novo variant in the MAPRE2 gene has been identified as a cause of the disorder.
Solving the Puzzle of SLC39A8-CDG: The Role of Genetic Testing in Diagnosis and Treatment
Mutations in SLC39A8 disrupt manganese transport and glycosylation, leading to developmental delay and movement disorders; galactose and manganese studies are covered.
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome: Unraveling Genetic Mysteries
Severe developmental delay, epilepsy and spastic paraplegia define this rare syndrome, which may also involve ocular abnormalities, incontinence and hearing loss.