Primary Ciliary Dyskinesia 15 (CCDC103): Signs and Tests
Mutations in CCDC103 disrupt assembly of ciliary dynein arms, leading to chronic airway infections, infertility and, in some people with PCD 15, situs inversus.
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
Primary Hyperoxaluria Type 3: Unraveling the Genetic Mysteries with Modern Testing
Faults in HOGA1, which encodes 4-hydroxy-2-oxoglutarate aldolase, let oxalate build up into kidney stones; PH3 testing supports early diagnosis and counseling.
Progressive Demyelinating Neuropathy with Bilateral Striatal Necrosis: The Role of Genetic Testing in Diagnosis and Management
SLC25A19 mutations disrupt thiamine metabolism, damaging the myelin sheath and the striatum; testing confirms the diagnosis and can point to thiamine replacement.
Recurrent Neisseria Infections Due to Factor D Deficiency: A Genetic Insight into Prevention and Management
Without factor D, the alternative complement pathway cannot clear Neisseria bacteria, raising the risk of meningitis and septicemia. Testing can also screen relatives.
Renal Hypomagnesemia 6: Unraveling the Genetic Threads of Magnesium Imbalance
Magnesium transport and renal reabsorption depend on a network of genes, and identifying the variant involved supports family screening and tailored supplementation.
Revealing the Genetic Secrets of Retinitis Pigmentosa 20
PRPF8 encodes a splicing factor, and mutations disturb mRNA processing in RP20, producing exon inclusion differences that are measurable in blood samples.
Retinitis Pigmentosa 27: Unlocking the Genetic Code for Vision Preservation
Night blindness and narrowing peripheral vision mark RP27, linked to FAM161A mutations that affect photoreceptor structure and confirmed through DNA analysis.
Revealing Retinitis Pigmentosa 4: The Role of Genetic Testing in Understanding Vision Loss
Photoreceptor degeneration in RP4 brings night blindness, then peripheral and central vision loss; pinpointing the causative variant sharpens prognosis and care.