Alnylam

Commercial

Aimee Deaton

OFHS240106

At Alnylam, we develop RNAi therapeutics, which are a type of gene-silencing medicine. 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 an RNAi therapeutic, as these therapeutics 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.

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.

Public Health Research

30/05/2024

TRE