SCA35: Dominant Inheritance and an Unconfirmed Gene
Coordination and balance decline steadily in SCA35, which is inherited in an autosomal dominant pattern; its causative mutation is still under investigation.
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
Spondylocostal Dysostosis 4, Autosomal Recessive: Genetic Insights and Implications
Vertebral segmentation defects and rib anomalies follow inheriting two mutated copies in SCDO4; a newborn case with Sifrim-Hitz-Weiss syndrome is described.
Sterol Carrier Protein 2 Deficiency: A Genetic Insight into a Lesser-Known Metabolic Disorder
SCP2 moves cholesterol and other lipids inside cells, so a deficiency disturbs their distribution; testing supports early diagnosis, diet changes and family screening.
Tracing THOC6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome Through Genetic Testing
The THOC6 gene is part of the THO complex handling mRNA processing and export; faults in it lead to developmental delay, a smaller head and distinctive facial features.
Treacher Collins Syndrome 2: Genetic Testing and Its Transformative Potential
Mutations in POLR1D disturb ribosome biogenesis and facial bone development. Autosomal dominant inheritance, new mutations, hearing aids and counseling are all covered.
Tackling Type I Complement Component 8 Deficiency: The Role of Genetic Testing
Missing C8 protein weakens the terminal complement pathway, leaving people prone to Neisseria infections such as meningitis. Testing and prophylaxis are discussed.
Type II Complement Component 8 Deficiency and C8 Defects
A faulty C8 protein blocks the membrane attack complex, leaving Neisseria infections harder to clear. DNA testing confirms this autosomal recessive deficiency.
Vesicoureteral Reflux 3 and the TNXB Gene Variant
A novel variant in TNXB has been tied to kidney agenesis and VUR3, opening up earlier diagnosis, targeted care and preimplantation genetic diagnosis for families.