Unlocking the Mysteries of X-linked Intellectual Disability: Genetic Testing and Beyond
Changes in the ARX gene mainly affect males with XLID1, whose cognitive impairment ranges from mild to severe and can include seizures and speech difficulties.
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
Decoding the Genetic Puzzle of Kniest Dysplasia: A Comprehensive Guide
Abnormal type II collagen from COL2A1 mutations gives Kniest dysplasia its short stature, enlarged joints and eye problems such as myopia and retinal detachment.
Decoding the Genetic Mysteries of Lactic Acidosis: Diagnosis and Genetic Testing
Lactic acid builds up in the blood when metabolism falters; reported genetic causes of lactic acidosis include SURF1, YARS2, CREBBP, TANGO2 and PDHB variants.
Langereis Blood Group: Lan Antigen and ABCB6 Testing
Variants in the ABCB6 gene can remove the Lan antigen from red blood cells. Genetic testing identifies Langereis-negative blood and guides transfusion compatibility.
Decoding the Genetic Mysteries of Left Ventricular Noncompaction 3
A MYH7 missense variant can disturb actin-myosin binding as the ventricular wall forms, and overlap with dilated cardiomyopathy is discussed.
Decoding the Mysteries of Li-Fraumeni Syndrome: Understanding, Diagnosing, and Using Genetic Testing
Diagnostic criteria based on tumor type and age at onset, together with germline TP53 findings, decide who needs surveillance; PGT is one family planning option covered.
Long QT Syndrome 2/3: Digenic Inheritance Explained
Both KCNH2 and SCN5A encode cardiac ion channels, and mutations in the pair prolong the QT interval; diagnosis, risk stratification and treatment targets are outlined.
Long QT Syndrome 3/6, Digenic: Unraveling the Genetic Mysteries
Variable symptoms make this subtype hard to spot on an ECG alone; gene testing identifies the pair involved, screens relatives and shapes treatment in pregnancy.