Celebrate Rare Disease Day 2022 and find out about our Rare Diseases theme
Monday 28 February 2022
Rare disease day is an annual event that aims to raise awareness and generate change for the 300 million people worldwide living with a rare disease. It also gives us a perfect opportunity to share how the NIHR CYP MedTech team is working to transform the health of children and young people suffering from rare diseases through technology and innovation.
Projects that we are collaborating on include:
DX29 is a cloud based tool available to clinicians that utilises AI and natural language processing to analyse a patient’s symptoms, genetic information and clinical information to aid rare disease diagnosis. This platform can facilitate timely and effective treatment in hard to diagnose patients, improving clinical outcomes.
Rare Disease App
Diagnosis of a rare disease can inflict anxiety and stress upon patients and families, especially when first learning how to manage the condition. The Rare Diseases App aims to provide a reliable and reviewed source of information on various conditions alongside links to available support, to alleviate these concerns and help with the management of the condition.
STARS Rare Diseases Registry
STARS Rare Diseases Registry is designed to gather data from patients with rare diseases in order to achieve a better understanding of these conditions. Linking a patient’s data with that of other clinical studies is hoped to lead to improvements in treating the conditions and will further researchers’ understanding of the illness.
There are an estimated 24,500 children and young people living with a moderate or severe visual impairment (VI) in England. VI can have a negative impact on social, educational, psychological, and physical development and quality of life. GiveVision have developed SightPlus, a hands-free, head-mounted low vision aid which allows the wearer to use digital zoom, and alter colour/ contrast settings to optimise their vision. The Ophthalmology Department at Sheffield Children’s Hospital and NIHR CYP MedTech are the first in the UK to evaluate the functionality, usability and acceptability of SightPlus for children and young people with VI.