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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.
Exploring the experiences of being an advocate for a child with a rare chromosome and/or gene disorder associated with a neurodevelopmental disorder
Who can get involved?
- Parent or guardians of a child with a confirmed rare genetic diagnosis associated with a neurodevelopmental disorder (such as an intellectual disability or autism)
- If you act as an advocate for your child
- People aged over 18, can communicate in English and provide informed consent.
- Parents or guardians are welcome to participate individually or can be interviewed together as a couple.
- This study is open internationally
Learn more and get involved by contacting Kitty at murdochk1@cardiff.ac.uk
How can rare disease research be more accessible (easy to access) in Ireland and Northern Ireland
Who can get involved?
you’re aged 18 or above and live in the Republic of Ireland or Northern Ireland and either:
- have been diagnosed with a rare condition
- are a carer and / or are a family member of a person with a rare condition
- a researcher investigating rare conditions
- a rare condition advocate and/ or a rare condition charity representative.
Exploring the experiences of unpaid carers supporting someone with both Intellectual Disability (ID) and dementia.
Who can get involved?
An informal carer aged 18 or over. Someone who is supporting a person with a formal diagnosis of both ID and dementia. Involved in, or have been involved in, their care and the process of getting a dementia diagnosis.
Unfortunately, you will not be able to take part if you care for someone with Down’s syndrome and dementia.
Taking part would involve an interview with a choice of being in person, by telephone or by video call (Microsoft Teams or Zoom).
Learn more and get involved by contacting klr483@student.bham.ac.uk
Understanding how to improve social care support for children with life-limiting conditions and their families
Who can get involved?
parents or guardians of a child (0-17 years) with a life-limiting condition in England?
Taking part would involve a short interview and an online workshop
Learn more and get involved by contacting kentownresearchstudy@kcl.ac.uk
Join the MRC CoRE in Therapeutic Genomics Parent and Family Group
Who can get involved
Anyone with, or has a family member with, a genetic or rare genetic condition
Learn more and get involved by contacting carol.porteous@paediatrics.ox.ac.uk
Patient Survey: Improving the delivery of genetic results
Who can get involved?
People who have received a genetic test result from the NHS.
Help by taking art in a short survey to better understand patients’ experiences of receiving genomic test results, how easy reports are to understand, and what could be improved to make them clearer, more accessible, and more useful.
How sex chromosome variations affect fetal development
Who can get involved?
Anyone who is pregnant with a baby with an X or Y variation?
The study involves sharing details of your health during your pregnancy and supplying a small sample of your umbilical cord after birth.
Email xycord@cuanschutz.edu for more information or to get involved
Research on NRXN1 / 2P16.3
Who can get involved?
People with, or who have children with, a variant in NRXN1 / 2P16.3 gene
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
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.
Developing a medical and psychiatric blueprint for a 17q12 diagnosis
Who can get involved?
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
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
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
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.
