May 20th-26th 2019 is National Epilepsy Week! National Epilepsy Week is dedicated to educating the broader community on epilepsy, supporting those who suffer from the condition, and general awareness building in regards to epilepsy and potential treatments. NemaMetrix is dedicated to being part of the solution leading to “a world without epilepsy”. Though there are […]
In 1998, the soil nematode Caenorhabditis elegans became the first multicellular organism of which the genome has been sequenced completely. One surprising result of this approach was that ~65% of the human disease genes have a counterpart in the worm….
There is a significant pressure to increase diagnostic yield and it has its consequences. BRCA testing is probably the most developed ecosystem for genetic tests but controversy remains about what medical procedures are best recommended for the patient. High profile cases such as Angelina Jolie’s decision to undergo a bilateral mastectomy and the implication of […]
How to better understanding Variants of Uncertain Significance in epilepsy and help find new therapeutic approaches Did you know that 1 in 26 people will experience epilepsy at some point in their lifetime? This statistic is very high, and therefore it is likely many of you have experienced epilepsy or know someone who has. My […]
Performing sequence analysis on a patient with a suspected genetic disease is becoming a standard of care. However, when a genetic variation is identified as pathogenic in a disease state, clinicians and patients are faced with making difficult care decisions. NemaMetrix has developed a platform that allows us to undertake functional analysis of variants to […]