Title |
A Model Program for Translational Medicine in Epilepsy Genetics
|
---|---|
Published in |
Journal of Child Neurology, January 2017
|
DOI | 10.1177/0883073816685654 |
Pubmed ID | |
Authors |
Lacey A. Smith, Jeremy F. P. Ullmann, Heather E. Olson, Christelle M. El Achkar, Gessica Truglio, McKenna Kelly, Beth Rosen-Sheidley, Annapurna Poduri |
Abstract |
Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical genetic testing may lead to a specific molecular diagnosis for some patients, test results often lead to more questions than answers. As the field begins to focus on therapeutic applications of genetic diagnoses using precision medicine, developing processes that offer more than equivocal test results is essential. The success of precision medicine in epilepsy relies on establishing a correct genetic diagnosis, analyzing functional consequences of genetic variants, screening potential therapeutics in the preclinical laboratory setting, and initiating targeted therapy trials for patients. The authors describe the structure of a comprehensive, pediatric Epilepsy Genetics Program that can serve as a model for translational medicine in epilepsy. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 50% |
Canada | 1 | 17% |
United Kingdom | 1 | 17% |
Unknown | 1 | 17% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 50% |
Science communicators (journalists, bloggers, editors) | 2 | 33% |
Scientists | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 5 | 20% |
Researcher | 4 | 16% |
Lecturer | 2 | 8% |
Student > Bachelor | 2 | 8% |
Student > Ph. D. Student | 2 | 8% |
Other | 3 | 12% |
Unknown | 7 | 28% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 24% |
Biochemistry, Genetics and Molecular Biology | 3 | 12% |
Agricultural and Biological Sciences | 2 | 8% |
Psychology | 2 | 8% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
Other | 4 | 16% |
Unknown | 7 | 28% |