BEGIN:VCALENDAR
VERSION:2.0
PRODID:talks.ox.ac.uk
BEGIN:VEVENT
SUMMARY:Neurodevelopmental Disorders: from the bedside to the bench and ba
 ck - Prof Usha Kini (University of Oxford)
DTSTART;VALUE=DATE-TIME:20240612T131500
DTEND;VALUE=DATE-TIME:20240612T141500
UID:https://talks.ox.ac.uk/talks/id/a74c28e4-41e6-4272-9f7b-d4f995ec198e/
DESCRIPTION:Neurodevelopmental Disorders (NDD) affect 2-3% of the general 
 population and are heterogeneous in presentation\, severity\, and causes. 
 Over 2000 single gene defects responsible for NDD have been described so f
 ar and individually they qualify as ‘rare’ or ‘ultra-rare’ disease
 s. To resolve the diagnostic dilemma for NDD patients\, we have used eithe
 r a phenotype-driven approach (i.e. based on symptoms\, such as brain malf
 ormations\, epilepsy) or a molecular network approach (e.g. looking at fam
 ilies of proteins) to identify novel NDD genes. We have done this using ou
 r own genetic sequencing data from patients\, as well as large datasets su
 ch the DDD study and 100\,000 Genomes Project. Natural history cohort stud
 ies and genotype-phenotype correlation studies have not only enabled progn
 ostication but also helped identify objective measures of clinical trials 
 outcome. \nWith the rising diagnostic yield in rare NDD patients\, researc
 h focus has turned to therapy. Severe epilepsy in NDD affects the quality 
 of life for patients and their carer. Our recent study of patients with se
 vere\, early onset epilepsy has shown the importance of genotype in determ
 ining optimal treatment. Further work on early therapy for genetic NDD is 
 underway. \nSpeakers:\nProf Usha Kini (University of Oxford)
LOCATION:John Radcliffe Hospital - Main Building (Seminar Room 2B\, George
  Pickering Education Centre Level 3)\, Headington OX3 9DU
TZID:Europe/London
URL:https://talks.ox.ac.uk/talks/id/a74c28e4-41e6-4272-9f7b-d4f995ec198e/
BEGIN:VALARM
ACTION:display
DESCRIPTION:Talk:Neurodevelopmental Disorders: from the bedside to the ben
 ch and back - Prof Usha Kini (University of Oxford)
TRIGGER:-PT1H
END:VALARM
END:VEVENT
END:VCALENDAR