Pontocerebellar Hypoplasia Type 2F: CHMP1A Carrier Testing
A homozygous CHMP1A variant arising through segmental uniparental disomy underlies PCH type 2F, with an underdeveloped cerebellum and pons and profound delay.
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
Porokeratosis 9, Multiple Types: Unveiling the Genetic Puzzle
Abnormal keratinization produces annular plaques with raised borders in Porokeratosis 9, which can carry a skin cancer risk; DNA analysis helps confirm atypical cases.
Premature Ovarian Failure 11: Diagnosis and Hormone Care
Women whose periods stop before 40 may have POF11, in which gene changes drive early ovarian decline; hormone replacement, bone health and counseling are discussed.
Probing the Pathways of Premature Ovarian Failure 12: The Promise of Genetic Testing
POF12 covers ovarian failure before 40 with a strong genetic component; at-risk screening, hormone replacement and reproductive options such as IVF are described.
Primary Ciliary Dyskinesia 33: Sinus Findings and Genes
Sinus volumes measured smaller in PCD patients than in controls, one of the research findings here, alongside gene testing, early intervention and family counseling.
Primary Coenzyme Q10 Deficiency 8: Unlocking the Potential of Genetic Testing
Mutations in COQ2 block coenzyme Q10 production, leaving cells short of energy; muscle weakness, ataxia, seizures and how testing confirms PCQD8 are set out.
Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection: Understanding the Role of Genetic Testing
In some primary immunodeficiencies the weakened viruses in the MMR vaccine cause prolonged infection; genetic testing can pinpoint the immune defect behind it.
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome: Unraveling Mysteries with Genetic Testing
Features of premature aging combine with connective tissue anomalies and abnormal fat distribution in PMLS; genetic testing supports early diagnosis and counseling.