- By Rhonda Lassiter
- Posted August 10, 2018
Science in 60: Attacking a VUS from Multiple Angles
Neurodevelopmental disorders (NDDs) involve a wide range of symptoms and severity. Individuals may present with multiple indications including epilepsy, autism, intellectual disability, developmental delay, dysmorphic features, and other congenital anomalies. The broad and nonspecific nature of NDDs can lead to significant diagnostic challenges.…
- By Deepti Babu, MS, CGC
- Posted June 7, 2017
Improve Patient Care by Reducing Ambiguity in Gene-Disease Relationships
New discoveries are rapidly expanding our understanding of the human genome, and diagnostic laboratories use different approaches to interpret this knowledge. A challenge for laboratories is translating vast amounts of published evidence to determine the clinical validity of gene-disease relationships, which need to be integrated into a patient’s…
- By Jackie Connor
- Posted March 30, 2017
Dr. Rachid Karam Discusses Variant Classification at 2017 ACMG Annual Meeting
Actionable medical results are often a key component in deciding a patient’s medical management and specialized treatment options. However, some genetic test results can have unclear implications or Variants of Unknown Significance (VUS), which can often affect a clinician’s medical management plans for their patients. During the 2017 ACMG…
- By Jackie Connor
- Posted March 2, 2017
RNA Labs—How they Impact the Medical World
Ribonucleic Acid, otherwise known as RNA, is the messenger that carries instructions for controlling the synthesis of proteins from Deoxyribonucleic Acid (DNA). The central dogma of molecular biology states that “DNA makes RNA makes protein." However, for the proteins, which are the final product, to work properly, the RNA needs to be “edited,"…