Do you live near or could easily travel to Pennsylvania?
If so, you could help with research into the genomic change that causes the symptoms of r(20) syndrome.
Carolina Montaño, MD, PhD is an attending Physician in the Division of Human Genetics, Department of Pediatrics at the Children’s Hospital of Philadelphia working closely with Nancy Spinner, an eminent member of our Ring20 International Scientific Advisory Board. Together with the help of a Glennis Logsdon they are commencing a study to try to identify the cause behind the ‘ring’ formation and why this leads to seizures and other problems.
Read on to find out more about this study and how you can take part…
AIM: To use long read sequencing to try to identify the pathogenic variation in people living with r(20) syndrome
Why participate…
By studying blood and/or skin samples from people with an r(20) diagnosis researchers will try to discover what genomic change causes the ring formation and why the seizures and other problems occur.
Am I eligible…
To be eligible to participate in this study you must:
- Have a confirmed diagnosis of ring chromosome 20 – initially we would like samples from individuals with a higher level of mosaicism with no deletions, but the researchers are keen to get a variety of samples for further study.
- Be willing to provide a sample in-person at the Children’s Hospital of Philadelphia (CHOP) – you do not have to be a patient at CHOP.
- Attend with both birth parents (ideally) so they can provide a sample too.
- Be able to provide your consent; informed consent can be obtained from patient or caregiver.
Will this benefit me…
The findings from this study could help inform future research into finding more targeted and effective treatments for r(20) syndrome, as well as finding easier ways to diagnose r(20).
Ultimately, finding more people living with r(20) may help us to understand more about:
- how many people actually have r(20) in the world
- how r(20) symptoms change over time
It could also open doors to more research interest into r(20) in the future.
What will I have to do…
You will need to attend the Children’s Hospital of Philadelphia to provide a blood (and optionally a skin biopsy) sample. Individuals ideally should attend with both birth parents, as samples are also to be taken from the birth mother and birth father.
What will happen after…
The research team may publish their findings and use new knowledge to inform further research into r(20).
Any questions…
To request to participate in this study, or if you have any further questions, please contact
