Blood Group Erik: SLC44A2 and Related Health Risks
SLC44A2 deficiency gives this rare red cell phenotype, reported alongside hearing impairment, recurrent arterial aneurysms and epilepsy. PCR and sequencing confirm it.
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
Blood Group, Ss: ABO Variants and Genetic Testing
An ABO splice site defect from a 24-base pair deletion is described here, along with reported links to hypertension and a metabolically obese phenotype.
BMI QTL 19 and the BDNF rs6265 (Val66Met) Variant
Carrying the minor T allele of BDNF rs6265 was linked in a North India study to higher BMI, a finding the page uses to weigh testing for BMI QTL 19.
BMIQTL20: Genes Behind Body Mass Index Differences
Genome regions such as BMIQTL20 sit alongside diet and activity in shaping body mass index; the page explains QTL mapping, admixture mapping and AutoQTL.
Decoding the Mystery: Bombay Phenotype, Digenic and the Power of Genetic Testing
Discover the rare Bombay Phenotype blood group, its genetic basis, and the crucial role of genetic testing in diagnosing and managing potential health risks. Learn about the power…
CALFAN Syndrome: What Genetic Testing Can Confirm
Described here as affecting the lower limbs, face and nervous system, CALFAN syndrome varies widely between people, so sequencing is used to confirm a diagnosis.
Decoding the Genetics of Cerebellar Medulloblastoma: Understanding, Diagnosing, and Harnessing Genetic Testing
Work on Aspm, PARP-1, sonic hedgehog signaling and PGBD5 shapes how this childhood brain tumor is understood; tumor testing informs prognosis and trial eligibility.
Decoding the Mystery of Childhood Onset Sensorineural Hearing Impairment: Understanding, Diagnosing, and Using Genetic Testing
Hearing loss arising in the inner ear or auditory nerve, NSSHI may be present at birth or develop later; mitochondrial DNA and OTOF findings are covered.