Hereditary Essential Tremor 4: Gene Testing and Counseling
Involuntary rhythmic shaking, most often in the hands, defines HET4. What gene testing adds to diagnosis and family planning, and its ethical limits, are weighed.
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
Trichorhinophalangeal Syndrome: Understanding the Role of Genetic Testing in Diagnosis and Management
Explore how genetic testing plays a crucial role in diagnosing trichorhinophalangeal syndrome, guiding personalized treatment, and predicting disease progression.
Usher Syndrome Type 1J: Hearing, Vision and Balance Signs
Profound hearing loss from birth, retinitis pigmentosa and sometimes vestibular problems define type 1J, which DNA analysis separates from other Usher types.
Unlocking the Mysteries of Weill-Marchesani Syndrome 3 Through Genetic Testing
Overlap with Marfan syndrome makes WMS3 hard to identify from symptoms alone, so FBN1 testing is used to confirm it and support early care for lens dislocation.
Young Adult-Onset Distal Hereditary Motor Neuropathy: Unraveling Genetic Threads for Better Understanding and Management
Muscle weakness and wasting in the hands and feet mark YADHMN, a rare inherited motor nerve disorder. DNA analysis can confirm it and guide counseling.
Genetic Screening for Ehlers-Danlos Syndrome (EDS): A Comprehensive Guide
Learn how genetic screening for Ehlers-Danlos syndrome (EDS) works, which genes are involved, and what results can mean for diagnosis and care.
Advancements in Understanding Acrodysostosis 2 with or without Hormone Resistance
Explore how genetic testing advances understanding acrodysostosis 2, aiding in early diagnosis, personalized treatments, and informed family planning decisions.
Adenine Phosphoribosyltransferase Deficiency: Genetic Testing's Role in Revealing the Hidden
Without working APRT enzyme, adenine is converted to 2,8-dihydroxyadenine crystals that form kidney stones; the deficiency is autosomal recessive and often missed.