Category Archives: Genetics Matters

Only 4 days left to the 10th edition of Genetics Matters!

Genetics Matters flyers 2015-2026.

Time really flies when you’re having fun!

This year marks the 10th edition of our popular Genetics Matters – a Rare Disease Day event. Over the years we have chatted to over 900 people, exhibited work by 20+ genetic and rare disease laboratories, interacted with multiple charities and patient organisations and worked tirelessly to raise awareness of rare diseases and rare disease research in the North East.

We are really looking forward to seeing everyone at the Great North Museum: Hancock this Saturday at 10am. There will be presentations, debates, hands on experiments, microscopes, activities, enthusiastic scientists, free lunch, and some yummy cake.

Event agenda

09:30-10:10 Arrival and tea/coffee

10:10-10:15 Welcome – Kasia Pirog

10:15-10:30 Introduction to the rare disease landscape at Newcastle – John Sayer

10:30-10:50 Jordi Diaz-Manera: Presenting the MyoGuide – a resource to advance diagnosis and research in neuromuscular diseases

10:50-11:10 Sophie Hambleton: What are ‘Advanced Therapies’ and what hope do they offer for people living with a rare disease?

11:10-11:30 Annette Pantall: A patient’s perspective on the importance of genetics and novel therapies

11:30-11:50 Carly Nicklin: Anthony Nolan, a pioneering UK charity that saves the lives of people with blood cancer and blood disorders by managing a stem cell donor register

11:50-12:30 Debate: How do we get more treatments to the people who need them? In the absence of medicines and cures for many conditions, how do we help patients live their best lives? How do we address inequities for people living with a rare disease?

12:30-13:00 Lunch (buffet)

13:00-15:00 Round tables (lab demos, hands on activities, approx. 10-15 min per table)

  • rare skin conditions & microbiology,
  • chondrodysplasias & connective tissue engineering,
  • neuromuscular disorders,
  • Human Developmental Biology Resource (HDBR),
  • cystic fibrosis research,
  • blood marrow donation matching,
  • rare eye diseases and eye organoids,
  • inborn errors of immunity,
  • rare kidney disease,
  • NIHR HealthTech Research Centre in Diagnostic and Technology Evaluation

Registration is open for Genetics Matters 2026

Registration for our annual #GeneticsMatters Rare Disease Day patient and public information day is now open. Join us for interesting presentations and hands-on demonstrations, meet the scientists, and find out more about rare disease research at Newcastle University and The Newcastle Upon Tyne Hospitals NHS Foundation Trust. The event is FREE to attend and refreshments will be provided. To register, click: https://lnkd.in/eSSbGNSD

The 9th edition of Genetics Matters will take place on the 2nd of March 2025

Our flagship rare disease event is back!

A fun day of science, with hands on experiments, patient and scientist talks, and an opportunity to learn and network, Genetics Matters has become a feature in the North east’s rare disease calendar. Join us on the 2nd of March to celebrate rare diseases and rare disease research in the North East, share your experiences, and find out more about rare diseases.

The 8th Genetics Matters was a great success!

The Great Hall at the Discovery Museum was abuzz with science and exciting conversations last Sunday as Newcastle university researchers, rare disease patients and members of the public gathered to celebrate the International Rare Disease Day.

With 104 attendees and 40 enthusiastic scientists, a wonderful panel debate on achievements and challenges in rare disease research, exciting hands on experiments (building a 3D skin model, DNA extraction, osteoarthritis diagnosis, muscle MRI scans, art installations and many more) and lovely food, we had an amazing day!

We’d like to thank all the presenters and attendees for participating in our event. We hope you enjoyed it as much as we did, and we hope to see you next year again!

Some feedback from our participants:

[The event] was great, no need for improvement!

Thank you for hosting such an amazing event!

Loved each and every bit.

Thank you for recommending this, I had a really great time! […] Everyone there was really nice and the activities were so fun

Many thanks to you all for giving your weekend to educate and entertain us.

Thank you for taking part in Genetics Matters!

We had 100 people with us yesterday, despite Newcastle United playing at Wembley, raising awareness of rare diseases and rare disease research, chatting about science, performing experiments, and discussing aspects of medical research at Newcastle.

The room was buzzing with interesting conversation, and we have already had a lot of good feedback. Thank you to all the presenters and scientists, patient organisations and patients for participating, and thank you to everyone for coming and spending a Sunday afternoon with us. We really enjoyed the event and we hope that you did too.

See you next year!

Photos by Rachel Richman