Anterior Segment Dysgenesis 4: Unveiling the Genetic Puzzle
FOXE3 variants can underlie ASD4, and identifying them separates the condition from similar eye disorders and supports monitoring for glaucoma and cataracts.
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
Aortic Aneurysm, Familial Thoracic 4: Family Screening
Often silent until a dissection or rupture, TAAD4 can be identified through DNA analysis that also extends testing to relatives and sets imaging schedules.
Analyzing Aromatase Excess Syndrome: The Role of Genetic Testing in Diagnosis and Management
Overexpression of the aromatase enzyme raises estrogen levels and causes gynecomastia and precocious puberty, with genomic rearrangements behind the overactivity.
ADHD Genetics: Heritability, Dopamine and Comorbidity
Inattention, hyperactivity and impulsivity carry an estimated 70-80% genetic contribution; dopamine-related variants and genes shared with anxiety are covered.
Autosomal Dominant Lamellar Ichthyosis: Exploring Genetic Testing in Understanding and Managing the Condition
Scaling skin present from birth or early childhood in ADLI has been tied to TGM1, ALOX12B and ALOXE3. Emollients and keratolytic agents manage the symptoms.
Genetic Testing: A Gateway to Understanding Autosomal Dominant Opitz G/BBB Syndrome
Widely spaced eyes, cleft lip and palate and hypospadias are midline features of this syndrome; its autosomal dominant form is linked to mutations in SPRY1.
Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Genetic Testing as a Beacon of Hope
Cramps, stiffness, weakness and sensory disturbances follow HINT1 mutations inherited from both parents. Research points to carbamazepine for managing symptoms.
Beckoning Clarity: Genetic Testing's Role in Beckwith-Wiedemann Syndrome
A chromosome 11 overgrowth disorder, Beckwith-Wiedemann syndrome causes an enlarged tongue, abdominal wall defects and a higher risk of childhood cancers.