Raising awareness for Rare Diseases Day 2022
Rare Diseases Day on 28 February 2022 will raise awareness for the 300 million people worldwide living with a rare disease. To observe the day, Dr Jo Moss, Principal Investigator of the Neurodevelopmental Research (NDevR) lab, shares the importance of the team's research.
We’re a team of post-doctoral researchers, PhD students, placement students, research associates and volunteers.
Our aim is to better understand the social, emotional and cognitive diversity of people with neurodevelopmental conditions. Specifically, our research focuses on individuals living with rare genetic conditions associated with learning disabilities.
The NDeVR lab is one of four research centres that comprises the Cerebra Network for Neurodevelopmental Disorders; a unique collaborative research network that truly integrates knowledge, expertise and resources across four leading institutions.
People with rare genetic conditions associated with learning disabilities are more likely to experience poorer developmental, health and wellbeing outcomes compared to the general population. These difficulties may include mental health problems, sleep difficulties and social-communication difficulties that are often overlooked in clinical care. Despite the collective prevalence of genetic conditions and their significant clinical need, research in this field receives disproportionally low investment.
We hope that our research raises awareness and enables improved understanding, assessment, and support. Our goal is to conduct research that leads to improved outcomes for individuals and their families.
Our amazing participants and their families
We are inspired by the strength and the resilience of our amazing participants and their families, who fight so hard every day to get the support they so urgently need and deserve. We are grateful to all participants who take part, not necessarily for their own immediate benefit, but with the hope of being able to improve the lives of others who in the future may face the same challenges as themselves.
Our current projects
Our current projects focus on a range of topics, including the social and emotional wellbeing of individuals and their families.
The BEOND study is a survey for parents and caregivers of children and adults with rare genetic conditions and neurodevelopmental disorders. We will be launching the survey in early 2022.
We're also developing online training materials for teachers and special educational practitioners to help raise awareness of the complex needs of children with genetic conditions who attend their schools.
Importantly, we regularly organise focus group events with clinical practitioners, teachers, and the rare genetic conditions community to identify which research areas are of top priority for our participants and develop appropriate study tasks and materials.