Broad Institute

grid.66859.34

Dr Alba Sanchis-Juan

DAA120_EGA

Advances over the past 10 years in genetic science have led to remarkable progress in understanding the causes of rare genetic diseases, yet more than half of cases are still not fully understood. The goal of this project is to look at genetic data collected worldwide, from donated research samples. By looking at all these samples together we will have a better understanding of the genetic differences and similarities that can lead to the most severe genetic disease in humans. To achieve this goal, we intend to combine very large-scale rare disease datasets that will include the NIHR BioResource Rare Diseases cohorts. We will combine multiple genetic changes (variant types) and perform a variety of analyses to determine similarities across patients in different datasets to their rare diseases. These studies will improve knowledge of gene dosage effects in many rare diseases, which will ultimately benefit affected individuals and their families.

Research

NIHR BioResource Data Access Committee

28/01/2022

De-Personalised

(e) processing is necessary for the performance of a task carried out in the public interest or in the exercise of official authority vested in the controller;

(j) processing is necessary for archiving purposes in the public interest, scientific or historical research purposes or statistical purposes in accordance with Article 89(1) based on Union or Member State law which shall be proportionate to the aim pursued, respect the essence of the right to data protection and provide for suitable and specific measures to safeguard the fundamental rights and the interests of the data subject.

The individual to whom the information relates has consented

No

One-off

Release