Mapping the Mysteries: Genetic Testing for Malan Overgrowth Syndrome
Excessive growth, intellectual disability and distinctive facial features follow mutations in the NFIX gene; testing distinguishes MOS from Sotos syndrome.
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
Mandibular Hypoplasia-Deafness-Progeroid Syndrome: Unraveling the Genetic Threads of a Rare Disorder
Underdeveloped jawbones, sensorineural hearing loss and signs of early aging follow POLD1 mutations, and testing separates MDPL from other progeroid syndromes.
Mapping MEGF8: Unlocking the Genetic Mysteries of Carpenter Syndrome
Explore how genetic testing reveals the mysteries of MEGF8-related Carpenter syndrome, aiding in early diagnosis, personalized care, and family planning strategies.
Mapping Mendelian Susceptibility to Mycobacterial Diseases Due to Complete IL12B Deficiency
IL12B encodes part of interleukin-12, needed to turn naive T cells into Th1 cells; without it, weakly pathogenic mycobacteria cause repeated infections.
Mapping the Mystery: Mendelian Susceptibility to Mycobacterial Diseases Due to Complete IL12RB1 Deficiency
Loss of IL12RB1 disrupts IL-12 and IL-23 signaling, leaving severe recurrent mycobacterial infections in an autosomal recessive pattern confirmed by gene testing.
Mysteries of Mendelian Susceptibility to Mycobacterial Diseases Due to Partial IRF8 Deficiency
When IRF8 works only partly, defense against Mycobacterium tuberculosis and non-tuberculous mycobacteria falters, and sequencing sets it apart from lookalikes.
Mendelian Mysteries: Unraveling Susceptibility to Mycobacterial Diseases Due to Partial STAT1 Deficiency
Impaired STAT1 signaling leaves people vulnerable to mycobacteria that rarely trouble others, and a confirmed mutation shapes antimicrobial treatment plans.
Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria: A Genetic Journey to Understanding
Whole-exome sequencing identified somatic IDH1 mutations in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, a rare disorder of bone growth and metabolism.