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Identifying targets for new medicines using linked genetic and health data in Our Future Health

Safe People

Organisation name

Alnylam Pharmaceuticals

Organisation sector

Commercial

Applicant name(s)

Aimee Deaton

Funders/ Sponsors

Safe Projects

Project ID

OFHS250045

Lay summary

At Alnylam, we develop medicines called RNAi therapeutics that interfere with the function of specific genes that cause or contribute to disease. The main aim of this study is to find “genetically validated” targets for new medicines. When a target is genetically validated it means that human genetics data tells us that a given gene plays an important role in disease. For example, there may be direct evidence to suggest that changes in that target’s gene sequence are associated with either causing a particular disease or protecting an individual from developing that disease. Pursuing genetically validated targets significantly increases the probability that a potential medicine will prove effective in clinical trials. An additional aim of the study is to better understand human disease, especially inherited disorders. This includes studying how often certain gene mutations result in a particular inherited condition, factors predisposing individuals to disease, and signs and symptoms of disease. This research will identify new relationships between changes in the DNA sequence of genes and human health. We’ll use statistics to mine the Our Future Health data for patterns. Specifically, we will look for mutations in genes that protect individuals from disease or make them healthier. In the past, this type of research has surfaced promising drug targets and led to new medicines. If a mutation protects individuals from disease by interfering with the function of a gene, then that gene is potentially a good target for our medicines, as they work by inhibiting the function of specific genes. We are also interested in finding mutations that cause or contribute to disease. This project will improve our knowledge of inherited disorders. Although these disorders are caused by gene mutations, carriers of disease-causing mutations do not always develop the condition or may have symptoms of disease but no formal diagnosis. We want to understand how often carriers develop disease, what the first manifestations of disease are, and how long it takes for diagnosis.

Public benefit statement

The study will identify potential drug targets for a range of diseases with unmet needs, including cardiovascular, metabolic, and respiratory disorders. With the genetic validation achieved through Our Future Health data, these targets are more likely to result in an approved treatment. This will advance the development of new medicines and, in doing so, benefit patients. Our study will also help us learn how to identify individuals who may have undiagnosed inherited diseases.

Request category type

Public Health Research

Other approval committees

Project start date

23/07/2025

Latest approval date

01/05/2025

Safe Data

Dataset(s) name

Safe Setting

Access type

TRE

Safe Outputs

Link to research outputs