Woolly Wonders: Navigating Genetic Testing for Autosomal Recessive Woolly Hair 3
Tightly curled, wool-like hair can trace to two inherited copies of a LIPH variant; testing confirms woolly hair, autosomal recessive 3 and supports carrier screening.
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
Marvels of Medicine: Understanding 3-Methylglutaconic Aciduria, Type VIIB
Developmental delays, muscle weakness and metabolic crises can appear soon after birth; a newborn case in Russia was confirmed through genetic testing.
Achieving Clarity: Genetic Testing and Achromatopsia 7
Cone cells fail, leaving color blindness, reduced acuity and light sensitivity; a United Arab Emirates study found CNGA3 mutated most often in achromatopsia.
Acrofacial Dysostosis Cincinnati Type: Face and Limbs
Craniofacial and limb malformations define this acrofacial dysostosis; the page covers what genetic testing can confirm and the tp53-dependent pathways under study.
Al-Raqad Syndrome: Unlocking the Mysteries of Genetic Testing
Developmental delay and impaired myelination define this rare disorder, and a newly reported DCPS variant in a 7-year-old boy widened what is known about it.
Amelogenesis Imperfecta Type 1F: Unraveling the Genetic Mysteries Behind Enamel Defects
Teeth that are small, pitted, grooved or discolored point to a frameshift mutation in RELT, the gene that shapes enamel in type 1F.
Advancements in Understanding Ataxia - Oculomotor Apraxia Type 4: Genetic Testing as a Beacon of Hope
Impaired coordination, difficulty moving the eyes and peripheral neuropathy mark AOA4, linked to SETX variants that affect RNA processing and DNA repair.
Autoimmune ILD-Arthritis Syndrome: Lungs and Joints
Scarred, inflamed lung tissue together with joint pain and stiffness marks this syndrome. Certain gene variants may signal susceptibility and help target treatment.