How to better understanding Variants of Uncertain Significance in epilepsy and help find new therapeutic approaches There is an amazing statistic out there on epilepsy: 1 in 26 persons will experience epilepsy at some point in their lifetime It is likely many of you have experience epilepsy or know someone who has. My experience was […]
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 […]
The passion to find answers is inspiring. I had the good fortune to attend the KCNQ2 Cure Summit 2018. Meeting the patient families and seeing their passion to find answers, brings meaning and urgency to the work I have been doing to develop high-throughput drug screening platforms. What can we do to help these families? […]
Epilepsy Genetics 1 out of 100 persons is living with active epilepsy (Zack and Kobau 2017, WHO 2018). For the subset that can be pinned down to having a genetic cause, there are about 70 or so genes involved in causing the illness (Lindy 2018). Until recently, the frequency of a gene’s association with epilepsy […]
The latest issue of Drug Discovery News (DDNews) features a special report on Animal Models of Disease, highlighting the NemaMetrix/Knudra merger and the value of C. elegans as a model organism for disease research.