Amyloidosis, Primary Localized Cutaneous, 2: Unveiling the Genetic Code
Itchy, hyperpigmented macules on the shins point to this skin-limited amyloidosis; genetic testing helps separate PLC2 from other amyloid and skin disorders.
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
Aneurysm-Osteoarthritis Syndrome: Unraveling the Genetic Threads
Aneurysms alongside early-onset osteoarthritis point to a connective tissue disorder driven by SMAD3 mutations in the TGF-beta signaling pathway.
Aortic Aneurysm, Familial Thoracic 7: Navigating Genetic Testing for Better Outcomes
Inherited in an autosomal dominant pattern, AAT7 weakens the thoracic aortic wall; testing informs surveillance imaging, prophylactic surgery and prenatal options.
Aromatase Deficiency: Unraveling the Genetic Puzzle for Better Diagnosis and Treatment
Unlock the potential of genetic testing in diagnosing aromatase deficiency. Explore its impact on accurate diagnosis, personalized treatment, and informed family planning.
Understanding Autosomal Recessive Congenital Ichthyosis 8: The Role of Genetic Testing
Ceramide production in the skin depends on CERS3, and mutations in this gene disrupt the barrier, producing the hyperkeratosis and scaling of ARCI8.
LGMD2Q: Shoulder and Pelvic Girdle Muscle Weakness
Progressive weakness of the shoulder and pelvic girdles is the hallmark of LGMD2Q, and a POPDC3 splice site variant has widened its known genetic spectrum.
Addressing Autosomal Recessive Nonsyndromic Hearing Loss 74 Through Genetic Testing
Once PKHD1L1 mutations are identified, ARNSHL74 can be addressed early with hearing aids, cochlear implants and specialized educational programs.
Addressing Autosomal Recessive Nonsyndromic Hearing Loss 89 with Genetic Testing
Two altered copies of PKHD1L1, one from each parent, underlie ARNSHL89. Early diagnosis, counseling and the limits of interpreting genetic results are covered.