Revealing the Shadows: Genetic Testing for Retinitis Pigmentosa 57
A PRPH2 variant, p.Cys250Gly, reported in Japanese families follows autosomal dominant inheritance in RP57, which starts with night blindness.
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
Retinitis Pigmentosa 58: Unraveling the Genetic Threads of Vision Loss
ABCA4 appeared most often among 16 mutations found in a study of Israeli Jews of Ethiopian ancestry with inherited retinal disease, RP58 among them.
Retinitis Pigmentosa 58: Early Diagnosis and Counseling
Night blindness and a narrowing visual field mark RP58, in which the ABCA4 gene is frequently implicated. A DNA result supports monitoring before symptoms.
Rubinstein-Taybi Syndrome Due to EP300 Haploinsufficiency: Unraveling Genetic Mysteries
Broad thumbs and toes, distinct facial features and intellectual disability characterize this syndrome; an EP300 variant causing exon 20 skipping produced a severe form.
Seckel Syndrome 4: CEP152 Variants and Early Diagnosis
Carrier testing and early diagnosis rest on CEP152, the gene behind this autosomal recessive syndrome of growth retardation, microcephaly and distinct facial features.
What Genes Cause Seckel Syndrome 5? CEP152 Explained
Cell division and DNA repair genes, CEP152 among them, sit behind the growth retardation, microcephaly and facial differences that mark this rare syndrome.
Solving the Puzzle: Genetic Testing for Senior-Løken Syndrome 7
IQCB1 faults disturb primary cilia, causing nephronophthisis and retinitis pigmentosa. Short-read sequencing missed a LINE-1/ERV1 insertion that long reads revealed.
Spastic Ataxia 4: Unraveling the Genetic Threads Behind a Complex Disorder
A novel TUBA4A variant, p.Glu415Lys, has been linked to SPAX4, a disorder pairing spasticity with ataxia; testing can support earlier diagnosis and genetic counseling.