Leveraging Genetic Testing in Lethal Congenital Contracture Syndrome 8
Variants in the ADCY6 gene underlie this severe form of arthrogryposis multiplex congenita, and prenatal options such as CVS or amniocentesis can detect them.
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
Lethal Congenital Contracture Syndrome 9: Unraveling the Genetic Threads
A biallelic ADGRG6 variant has been linked to this perinatally fatal contracture disorder, and carrier screening shows couples a 25% chance in each pregnancy.
Lethal Fetal Cerebrorenogenitourinary Agenesis/Hypoplasia Syndrome: A Genetic Insight into a Rare Disorder
Agenesis or hypoplasia of the brain, kidneys and genitourinary tract makes this syndrome fatal in fetal life; testing supports carrier screening and counseling.
Lifting the Veil on Lichtenstein-Knorr Syndrome: The Role of Genetic Testing
Ataxia and deafness trace back to mutations in SLC9A1, the gene for the major Na+/H+ exchanger, and pinpointing the mutation separates LKS from similar disorders.
Lipoyl Transferase 1 Deficiency: Unraveling the Genetic Code
Muscle weakness, neurological problems and metabolic crises during illness or fasting mark this mitochondrial disorder, which genetic testing can confirm.
Linking Genetic Testing to Lissencephaly 7 with Cerebellar Hypoplasia: A Pathway to Better Understanding
Underdevelopment of the cerebellum alongside a smooth brain surface brings developmental delays; research points to the RELN gene, and DNA testing can confirm it.
Long QT Syndrome 14: Silent Carriers and Testing
Carriers of the ion-channel variant behind LQT14 often have no symptoms; genetic testing can find them, and research links the condition to recurrent pregnancy loss.
Long QT Syndrome 15: Unlocking the Mysteries with Genetic Testing
KCNE1 helps regulate the potassium channels behind cardiac repolarization; the G38S polymorphism, who should be tested and how results shape care are set out.