Cardiff University Rare Genetic Research

16p11.2 Deletion Syndrome is one of the many CNV’s we study here at Cardiff University. As we enter the new year, we hope to spotlight some of the CNV’s we study to bring awareness and share resources for those affected by them.

For more information on 16p11.2 Deletion Syndrome visit: www.rarechromo.org to access support resources and information guides.

🌟 Happy Wednesday!🌟

As part of 22q awareness month, this post is highlighting a couple of ways 22q Deletion and Duplication might affect development, including developmental delays and educational experiences.

For more information on these syndromes and relevant research, please see the links in the comments 🧬

💡Exciting News!💡

Professor Marianne van den Bree will be presenting at a webinar hosted by , sharing findings from her work leading the Rare Genetic Variant Research Programme here at Cardiff University.

This programme aims to investigate the development and day to day experiences of children and young people with rare genetic
conditions.

Prof. van den Bree will discuss key findings on topics such as neurodevelopment, mental health, motor coordination, irritability, sleep patterns, peer relationships and eating difficulties in children and young people with rare genetic conditions. Notably,
her research reveals that children with various rare deletions and duplications often experience similar difficulties.

We hope you will be able to join us! To sign up, please click this link, which can also be found in ’s bio : https://bit./y/3Cp16RV

November is 22q Awareness month 🧬

Over November we will be joining in and spreading awareness about 22q Deletion and Duplication. 📢

To celebrate, we will be spotlighting Max Appeal! They are a charity that focus' on building community and providing families with 22q deletion, support and resources. If you would be interested in donating to Max Appeal, you can do so via their website - www.maxappeal.org.uk

Please stay tuned throughout November as we will continue to share information about 22q Deletion & Duplication and how it affects the lives of those with the condition and their families.💜

We will also share our fundraising efforts for Max Appeal throughout the month, so please - get involved! ⭐

Happy Friday🧬

Last month was ADHD awareness month and so we wanted to share some information about it. This post discusses the prevalence of ADHD, as well as s*x differences and strengths associated with it!

All of the studies referenced are linked in the comments.

🧬Happy Monday Everyone!🧬

This week we wanted to share a brief summary of what being involved in the IMAGINE 2 study involves.

We have covered: the types of visits available, how the day of the visit will unfold and what happens after you have been involved.

If you have any questions about being involved in IMAGINE 2 please get in touch!

🌞 Happy Wednesday Everyone! 🌞

This week we wanted to share some information on different charities that provide support and resources for individuals living with rare genetic conditions and their families.

We have summarized three charities, what they do and the resources they provide. We have listed their social media platforms in this post. You can also find more information on their websites which are linked in the comments below!

🌞Happy Monday Everyone🌞

This week’s post is about 9q34 deletion, also known as Kleefstra syndrome. We’ve discussed some of the features of 9q34 deletion and linked some useful resources.

The charity Unique has a fantastic guide on 9q34 deletion which we have linked in the comments below!

New Resource Alert 📢
Happy Monday everyone! This week we wanted to share this newly published report discussing the special educational needs and disabilities assessment and support crisis.
This report was produced jointly by Child of the North and the Centre for Young Live and focused on SEN(D) services across England. This report involved some members of the CNV Research team right here in Cardiff!
The whole report is available to be downloaded from the N8 Research Partnership website.
Links to the download page will be in the comments below.

📢 New Research Alert! 📢

Today we wanted to share this new piece of research looking at cognition in children with 22q11.2 and 16p11.2 deletions and duplications.

This project was supported by grants from the National Institute of Mental Health. This project was conducted as part of the Genes to Mental Health Network and involved members of the CNV Research team here in Cardiff.

Thank you to all the families who were involved and for your continued support in our research.

Links to the full paper will be in the comments below.

Happy Friday Everyone!

Today we wanted to share some amazing resources from 22Q11 Ireland

Their team have created some fantastic animated videos to help tackle some common barriers when talking to families and professionals about 22q deletion syndrome.

These videos range from guides for GPs and teachers to discussing genetic counselling and anxiety in 22q deletion syndrome. The videos are all animated and available to anyone on the 22q Ireland YouTube channel.

These resources were created by 22Q11 Ireland and we would specifically like to acknowledge Wesley Mulcahy who was involved in making these videos happen.

The link to 22q Ireland’s YouTube channel will be in the comments below!