Hemoglobin H Hydrops Fetalis Syndrome: Newborn Testing
Severe anemia, heart failure and fluid buildup in fetal tissues mark this form of alpha thalassemia, reported in roughly 1 in 15,000 newborns in one screening study.
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
Unraveling the Mystery of Hemoglobin S: Genetic Testing and Beyond
Rigid, sickle-shaped red cells from an HBB gene mutation can block blood flow and cause pain, organ damage and infections; newborn and carrier testing are covered.
How HDL-C QTL7 Influences HDL Cholesterol Levels
Mapping methods such as QTL analysis, genotyping-by-sequencing and genome-wide association studies are used to pin down the genetic factors behind HDL levels.
HDL-C QTL8: Cholesterol Genetics and Disease Risk
Described as a genetic factor affecting plasma LDL cholesterol, the locus is tied to atherosclerosis risk, treatment personalization and public health screening.
Hirschsprung Disease Genes: RET, EDNRB, EDN3, SOX10
RET mutations account for most cases, with EDNRB, EDN3 and SOX10 also implicated, and DNA analysis helps when the clinical picture is atypical or uncertain.
Decoding the Mysteries of Pyridoxine-Responsive Homocystinuria: A Guide to Understanding, Diagnosing, and Using Genetic Testing
Discover the importance of genetic testing in diagnosing and managing pyridoxine-responsive homocystinuria, a rare genetic disorder, for improved patient care.
Unraveling the Mysteries of Hypogonadotropic Hypogonadism 2 with Anosmia: A Genetic Approach
Also known as Kallmann syndrome, this condition stems from GnRH deficiency. SOX10, PTCH1 and NOS1 findings are summarized, with testing and counseling.
IMPDH2 Enzyme Activity Variation and Genetic Testing
Guanine nucleotides for DNA and RNA depend on the IMPDH2 enzyme, and shifts in its activity can unbalance those levels; sequencing detects the variants involved.