Perrault Syndrome: Unraveling the Genetic Threads of a Rare Disorder
A homozygous ERAL1 mutation disturbs mitochondrial ribosome assembly in this rare disorder, which mainly affects females and pairs deafness with ovarian dysgenesis.
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
Phosphoenolpyruvate Carboxykinase (GTP) Deficiency: Unraveling the Genetic Threads of a Rare Metabolic Disorder
Gluconeogenesis falters when the PCK1 gene is altered, so severe hypoglycemia and metabolic acidosis can follow; diet changes and glucose monitoring help manage it.
Pioneering Pathways: Genetic Testing in Pilocytic Astrocytoma
Headaches, nausea, balance difficulties and vision problems can signal pilocytic astrocytoma, a slow-growing Grade I glioma in which BRAF mutations are often found.
Precision Pathways: Genetic Testing in Pilomyxoid Astrocytoma
Mutations in genes such as BRAF and FGFR1 shape treatment for pilomyxoid astrocytoma, a rare hypothalamic tumor that behaves more aggressively than pilocytic astrocytoma.
Pioneering Pathways: Genetic Testing and Pineoblastoma
Arising in the pineal gland and mainly affecting children and young adults, pineoblastoma is aggressive; tumor genetics can inform therapy choices and monitoring.
Pitt-Hopkins-like Syndrome: CNTNAP2 Testing and Diagnosis
Intellectual disability, developmental delay and distinctive facial features overlap with Pitt-Hopkins syndrome, so CNTNAP2 mutations are used to confirm PHLS instead.
Pioneering Precision: Genetic Testing in Pituitary Carcinoma
Unlike benign adenomas, this malignant pituitary tumor can metastasize, bringing hormonal imbalances, vision and neurological symptoms; AIP mutations are one link.
Probing the Puzzle of Popliteal Pterygium Syndrome: The Role of Genetic Testing
Skin webbing, cleft lip or palate and genital differences follow mutations in IRF6. The syndrome is autosomal dominant, so a single altered copy causes it.