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Research opportunities
If you’re looking to get involved in research, there are often many projects and studies taking place. Take a look at the current opportunities that we have come across.
Research in NRXN1 / 2P16.3
Who can get involved?
People with, or who have children with, a variant in NRXN1 / 2P16.3 gene
How parents explain their child’s rare chromosome or gene disorder to others
Who can get involved?
English speaking UK residents with a child living with a rare chromosome or gene disorder.
To register interest or request more information, please email Chloe at: YallopC@cardiff.ac.uk
Exploring the early development of repetitive motor behaviours
Who can get involved?
Families with infants aged 6-12 months with rare genetic syndromes.
For the in-person assessment, you must be local to the Birmingham area
Learn more and get involved by contacting Rachel Martlew at rxm731@bham.ac.uk
3q29 Project
Who can get involved?
individuals diagnosed with 3q29 duplication or 3q29 deletion syndrome
Learn more by contacting 3q29@cabm.rutgers.edu or the Project Manager, Terry Irving, directly at tmi21@cabm.rutgers.ed
Developing a medical and psychiatric blueprint for a 17q12 diagnosis
Who can get involved?
enrolling children and adults aged 6 months to 90 years who have had diagnostic genetic testing that showed a deletion or a duplication in chromosome 17q12.
To participate, contact Dr. Daniel Moreno
De Luca or the PRISMA research staff at
+1 780 492 4467 or prisma@ualberta.ca
What is it like to have a sibling with learning disabilities?
Who can get involved?
Siblings (aged 11-15 years old) and/or their parents.
Contact Zoe Starkie at z.starkie@uea.ac.uk for further information on taking part in a one hour interview.
Perceptions and emotions while receiving your child’s genetic diagnosis in the hospital
Who can get involved?
Parents/caregivers who are19 years or older who have a child that received a genetic diagnosis while in the NICU, PICU, or CCU.
Your child’s diagnosis cannot be Trisomy 21, Trisomy 18, Trisomy 13, or Turner syndrome as separate studies are likely more appropriate for parents of children with these conditions.
Understand the perspectives of
caregivers who use enclosed beds
Who can get involved?
Caregivers of people with intellectual disability
Exploring perspectives from South Asia – FOCUS project
Who can get involved?
South Asian families in India, and the UK who have a loved one with an intellectual and developmental disability.
How does RARB-related disorder affect you over time?
Who can get involved?
People affected by RARB-related disorder (also known as MCOPS12)
Email researcher for more info
Brain and Behaviour in Neurodevelopmental Disorders of Genetic Origin (BINGO)
Who can get involved?
UK-based individuals over the age of 10 with a genetic diagnosis from the following list:
ACTB, ACTL6B, ARID1A, ARID1B, ARID2, ATRX, BICRA, DPF2, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1
Feelings on future pregnancies after a de novo (new) diagnosis
Who can get involved?
Parents who have a child with a condition caused by a de novo (new) genetic change and were offered a personalised PREGCARE assessment (you may have accepted or declined the offer) or were you provided standard recurrence risk counselling and NOT offered PREGCARE?
Participants whose child was diagnosed through the National Health Service (NHS) in England and Wales would be most helpful for this study.
Contact researcher Alison Kay directly for more info: alison.kay@imm.ox.ac.uk
Helping families achieve an earlier diagnosis through facial matching
Who can get involved?
Families of children with a diagnosed intellectual
condition or syndrome
Help shape the future of rare disease care in England
Who can get involved?
Children (8–16) and young adults (16–29) in England living with a rare condition and their carers.
Email hello@rarerevolutionmagazine.com for more information.
How people with rare conditions experience their condition and how it shapes daily life and identity
Deadline: 15th January 2026
Who can get involved?
Adults (18+) in the United States who either have a rare condition or care for someone who does.
If you are interested, please contact Anita Osuri at aosuri2@emory.edu.
How people with rare conditions experience their condition and how it shapes daily life and identity
Who can get involved?
If you or someone you know may be interested in helping with this research, either by writing to NRXN1@mcri.edu.au or fill in the survey
