Workshop title: Rare neurodevelopmental disorders and copy number variants: The facts and knowledge gaps.

Workshop title: Rare neurodevelopmental disorders and copy number variants: The facts and knowledge gaps.

This is a one day workshop that is targeted at health care professionals. It is for anyone who wants to increase their knowledge of copy number variants associated with neurodevelopmental and neuropsychiatric outcomes. Copy number variants are a form of genetic variation associated with a number of neurodevelopmental outcomes. They are very variable in terms of the size and location and the number of genes that are affected and the manner in which they are affected. Research highlighted that certain CNVs are increased in developmental delay. Routine testing in developmental delay was recognised as a clinical standard of care and occurs in many, although not all European countries. In addition, we also now know that these same CNVs also increase risk for autism, ADHD, tic disorders, schizophrenia, bipolar disorder and depression and neurological conditions such as epilepsy. The manner in which CNVs increase risk for these conditions is not clear. They are associated with ‘incomplete penetrance’ which means that not all individuals who have the CNV will develop a severe neurodevelopmental or neuropsychiatric outcome. Therefore, testing for CNV in childhood is fraught with concerns regarding societal and ethical considerations.

This workshop aims to de-mystify copy number variants and risk for neurodevelopmental disorders. The approach will be multidisciplinary with speakers from a range of disciplines. The program aims to educate health care professionals about genetics, particularly copy number variants so that they can discuss these confidently with patients. The relative contribution of these to disorders such as autism, intellectual disability and psychosis will be discussed. In addition the psychological impact of CNV testing on families and ethical, legal and social implications will be considered within the European context. During the workshop we will also engage in qualitative discussions with attendees to highlight the current status of testing in different European countries and to explore the opportunities for education and research.

This workshop is funded by the Maximising Impact of research in NeuroDevelopmental Disorders (MINDDS) COST action. Attendance at the meeting is open to participants with an interest in this area from all countries that are participating in the MINDDS action and attendance costs will be reimbursed. There will be a local catering charge of €40 to cover lunch and dinner.

Date: 12/04/2019
Venue: Trinity College Dublin, Ireland
Places available: 25
Lead Organiser: Prof. Louise Gallagher, MINDDS WG1 Lead Trinity College Dublin

To register

Please complete the registration form here. Attendees will also receive an invitation through the COST website for reimbursement. Please note that attendees will need to both register and accept the COST invitation.

Format

This 1 day workshop will have both structured and unstructured aspects. The training will be delivered to a small group with opportunities for group discussion and two-way interaction.

Objective
  1. To educate healthcare professionals in MINDDS about copy number variants increasing risk for neurodevelopmental disorder.
  2. To assess the clinical pathways for NDDs in Europe with a view to building patient cohorts in MINDDS countries.
Themes
  1. Genomics/ CNV
  2. Neurodevelopmental Disorders and CNV
  3. Clinical genetics and genetic counselling
  4. Ethical legal and social considerations.
Outline Programme (please note that titles of talks will be finalised closer to the event)
1 day workshop
9.30-9.50amIntroduction and overview of objectives for the day.
9.50-10.20amWarm up exercise – assess knowledge on genetic literacy.
10.20-11.00amPromoting genetic literacy in non-specialist health care workers (talk).
11.00-11.20amCoffee
11.20am-12.00pmOverview of neurodevelopmental disorders and genetic risks – concepts of pleiotropy, incomplete penetrance, broader phenotypes.
12.00pm-1.15pmLunch – Focus groups – NDD cohorts in my country, recognition, services.
1.15pm-2.00pmCounselling families with NDDs and CNVs
2.00pm-2.45pmEthical, legal and social considerations in genetic testing for CNV for rare NDDs
2.45pm-3.10pmCoffee
3.10pm-3.50pmFocus groups – NDDs and genomic testing in my country – culture, healthcare.
3.50pm-4.30pmRound up – Qualitative assessment of workshop
4.30pm-4.50pmMeet the community – Talk from individual or family member impacted by rare CNV
8pmWorkshop dinner
Registration Form
  • * Fields are mandatory.