Mapping the Mysteries of Meckel Syndrome, Type 10: The Role of Genetic Testing
Occipital encephalocele, cystic kidneys and polydactyly mark this lethal autosomal recessive ciliopathy, in which a homozygous CEP290 variant truncates the protein.
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
Mapping the Mysteries of Meckel Syndrome, Type 9: The Role of Genetic Testing
Explore how genetic testing aids in diagnosing Meckel syndrome, type 9. Learn about early detection, prenatal testing, and personalized management for this rare disorder.
Melanoma Type 6 Susceptibility: Screening and NNMT
Families with a history of melanoma may use gene testing to find this predisposition; the page also reviews NNMT expression in lymph node metastases.
Methylmalonate Semialdehyde Dehydrogenase Deficiency: Unlocking the Genetic Code for Better Diagnosis and Treatment
Breaking down certain amino acids and fats depends on ALDH6A1; when that gene is faulty, developmental delays, neurological problems and metabolic crises can follow.
Understanding Microcephaly-Capillary Malformation Syndrome: The Role of Genetic Testing
Visible capillary malformations on the skin alongside a small head size suggest M-CM; genetic testing confirms the diagnosis and shows the recurrence risk.
Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 2: A Genetic Insight
ATP5MK variants can disable the ATP synthase complex that cells rely on for energy, a finding reported in four siblings and tied to muscular and neurological symptoms.
Mapping the Mystery: Understanding Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 3
Faulty ATP synthase leaves cells short of energy, and a novel ATP5MK variant found in one family shows how DNA analysis pins down the cause of nuclear type 3 deficiency.
Monocytopenia with Susceptibility to Infections: Understanding the Genetic Key to Better Health
A shortage of monocytes leaves the immune system with fewer defenders against infection; variants in the LGALS1 gene and the uses of genetic testing are described.