Celebrate Rare Disease Day with us!
February 9, 2024
We are happy to celebrate Rare Disease Day – the official international awareness campaign for rare diseases!
Rare Disease Day happens every year on the last day of February. This year, on 29th February 2024, the rare disease community will come together to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families, and carers.
Happy New Year from the BINGO Project!
January 8, 2024
Thank you to everybody who has taken part in BINGO project activities. The information you provided is incredibly valuable and has allowed us to better understand the range of challenges faced by individuals with rare genetic conditions, as well as how specific gene differences can affect brain function.
New paper on the social and emotional characteristics of individuals with DDX3X variants
August 10, 2023
Read our summary of a study conducted in young girls and women on the social and emotional characteristics of individuals with DDX3X variants.
New review paper on CACNA1A variants
September 5, 2022
Read the summary of our recent review paper where we explore previous research literature and report a new case of a child with CACNA1A variants.