Analyzing Ataxia-telangiectasia-like Disorder 2: The Role of Genetic Testing
MRE11 mutations impair DNA repair in ATLD2, which brings progressive ataxia and telangiectasia; a genetic result guides monitoring, management and counseling.
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
Atrial Conduction Disease: Titin Mutations and Risk
Impaired electrical impulses in the atria can cause palpitations or serious arrhythmias; a reported titin mutation shows why DNA testing and family screening matter.
Autoimmune Lymphoproliferative Syndrome Due to CTLA4 Haploinsufficiency: Unraveling the Genetic Enigma
Chronic diarrhea, anemia and enlarged lymph nodes follow when one working copy of CTLA4 cannot restrain the immune system. Testing confirms it and guides therapy.
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial IFN-gammaR1 Deficiency: The Role of Genetic Testing
A variant leaving the interferon-gamma receptor 1 partly deficient weakens defence against BCG and environmental mycobacteria, so infections recur.
Autosomal Dominant Mitochondrial Myopathy with Exercise Intolerance: Unraveling the Genetic Threads
Muscle weakness and fatigue during activity have been linked to an ISCU variant that disrupts iron-sulfur cluster assembly and mitochondrial energy production.
ADNSHL 65 in Children: Early Diagnosis and Testing
Mutations disturbing inner ear development underlie ADNSHL 65. Early diagnosis matters for children's language, and results inform PGD or IVF choices.
LGMD2U: Progressive Muscle Weakness and POPDC3
Degeneration of the shoulder and pelvic muscles follows a recessive pattern in LGMD2U, where a novel splice site variant in POPDC3 has recently been reported.
Autosomal Recessive Nonsyndromic Hearing Loss 102: Unveiling the Genetic Mysteries
Cochlear hair cells need PKHD1L1 to build their stereociliary coat, and mutations in the gene cause ARNSHL102, hearing impairment with no other anomalies.