NEW YORK (GenomeWeb News) – The National Institute of Neurological Disorders and Stroke plans to fund researchers who will work with partners at the Epi4K Genetics and Genomics of Epilepsies Center without Walls to identify and investigate genetic influences on epilepsy.
Under a new funding program, NINDS will provide up to $1 million next year for one to five projects to collaborate with investigators at Epi4K, a National Institutes of Health-funded center, to sequence and analyze DNA data and phenotypes from patients with varying forms of heritable epilepsy, or patients who have different responses to anti-epileptic drugs.
The Epi4K Center without Walls is a consortium that supports efforts to identify genetic risk factors in individual patients and to make discoveries that can lead to personalized treatments for epilepsy patients based on individual genetics.
According to NINDS, although progress has been made in identifying some genetic causes for certain Mendelian disorders, the genetic influences on epilepsy, which may be monogenic, polygenic, or environmentally influenced, "continue to be elusive."
It aims to fund projects that try to nail down some of these genetic influences through a range of collaborative studies. Scientists may apply for funding for projects to determine the genetic or genomic variation between carefully phenotypes patients with apparent Mendelian causes of epilepsy, as well as to discover genes involved in epilepsy syndromes that have a clear, heritable component but which are not Mendelian.
The researchers also may evaluate genetic or genomic variation in patients with differential risk of epilepsy, evaluate genetic variation in patients exhibiting differential responses to anti-epileptic drugs or other therapies, study genetic components in patients with non-epileptic seizures, and evaluate genetic variation in patients with malformations of cortical development or other forms of epilepsy.
For the purposes of this funding program, projects seeking to conduct genome-wide association studies, functional validation studies of putative genetic factors, or to recruit new epilepsy cohorts, would not be appropriate.
The Epi4K center includes a sequencing, biostatistics, and bioinformatics core to generate data on genetic variants, a phenotyping and clinical informatics core to assemble, organize, and validate patient information, and an administrative core.