PITX2 and FOXC1 Eye Abnormalities: Variant Testing
Anterior segment findings help separate FOXC1 from PITX2 cases, with corneal problems more common in FOXC1 and a new variant seen in Axenfeld-Rieger.
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
Decoding the Mysteries of POLR3-Related Leukodystrophy: Understanding, Diagnosing, and Harnessing the Power of Genetic Testing
Motor and cognitive impairment, seizures and craniofacial differences follow biallelic variants in POLR3A, POLR3B or POLR1C, which genetic testing can confirm.
Prednisolone Response: How Genes Affect Steroid Treatment
Some people respond poorly to prednisolone or develop side effects such as osteoporosis or mood changes, and variants affecting drug metabolism help explain why.
Decoding Primary Microcephaly 2: Understanding, Diagnosing, and Harnessing Genetic Testing
Seven genes, among them MCPH1, WDR62, ASPM and STIL, have been linked to this autosomal recessive disorder, which reduces head size and can affect the cortex.
Decoding PRKAG2 Cardiac Syndrome: Understanding, Diagnosing, and the Role of Genetic Testing
Ventricular preexcitation, tachyarrhythmias and cardiac hypertrophy overlap with HCM; testing the PRKAG2 gene separates the two and supports family screening.
Decoding the Mystery: Understanding and Diagnosing Regression of Motor Development with Severe Dystonia
Loss of motor skills, muscle stiffness and involuntary contractions accompany lesions in the basal ganglia. Imaging and genetic testing support the diagnosis.
Demystifying SeSAME Syndrome: A Comprehensive Guide to Understanding, Diagnosing, and Genetic Testing
KCNJ10 encodes the Kir4.1 potassium channel used by brain, inner ear and kidney tissue; mutations produce seizures, deafness, ataxia and electrolyte imbalance.
Decoding the Mystery: Understanding and Diagnosing Sideroblastic Anemia and Ataxia
Anemia with ringed sideroblasts alongside movement and coordination problems can indicate XLSA/A, linked to PGK1 at Xq13, or Pearson marrow-pancreas syndrome.