Porencephaly: Unraveling Mysteries with Genetic Testing
Genetic testing unveils porencephaly causes, aiding diagnosis, treatment, and research. Explore mutations, early detection, and personalized management strategies.
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
Pinpointing Primary Ciliary Dyskinesia: The Role of Genetic Testing in Diagnosis and Management
Cilia lining the airways lose normal motion in PCD, causing repeated infections and nasal congestion; splice-site changes in DNAH5 and their detection are explained.
Pinpointing PTEN Hamartoma Tumor Syndrome: The Role of Genetic Testing
Cowden, Bannayan-Riley-Ruvalcaba and Proteus syndromes all fall under PHTS, which stems from PTEN mutations; testing confirms it and flags relatives at risk.
Renal Tubular Dysgenesis: Inheritance and Diagnosis
Underdeveloped renal tubules leave newborns unable to balance fluid and electrolytes; this autosomal recessive disorder involves renin-angiotensin system genes.
Rhabdoid Tumor Predisposition Syndrome: Unraveling the Genetic Threads of a Complex Disorder
Pathogenic variants in SMARCB1 are linked to aggressive rhabdoid tumors of the brain, kidneys and soft tissues, usually in infancy. Relatives can be tested as well.
Revolutionizing Diagnosis: Genetic Testing and Rosette-Forming Glioneuronal Tumor
Usually benign and often sited in the fourth ventricle, these tumors mainly affect young adults. Genetic profiling helps separate them from DNETs and informs prognosis.
How Rothmund-Thomson Syndrome Type 1 Is Diagnosed
Reddish patches, atrophy and telangiectasia appear with growth retardation and skeletal problems in this recessive disorder. Testing supports surveillance plans.
Revealing Rothmund-Thomson Syndrome Type 2: The Role of Genetic Testing
RECQL4 mutations affect DNA replication and repair, producing poikiloderma, sparse hair, small stature and a raised osteosarcoma risk that clinicians can monitor.