Disciplines
Biology (50%); Medical-Theoretical Sciences, Pharmacy (50%)
Keywords
Inborn Errors of Immunity,
Inflammation,
Epigenetics,
Single-cell omics,
Personalized Medicine
Abstract
Some people are born with defects in the immune system, making them more likely to get
frequent infections or develop conditions like cancer or autoimmune diseases, where the
body attacks itself by mistake. These defects are usually genetic which means that the
disorder is caused by genetic mutation usually present from birth. This can lead to serious
health issues if not diagnosed and treated early. Scientists have found more than 450 genes
related to these immune issues. These genes offer insights into complex autoimmune and
inflammatory diseases. A disorder of the immune system can be caused by a mutation in just
one of these genes. This has facilitated the development of personalized medicine
approaches in which therapies are tailored on the basis of patient-specific genetic defects.
The PROMISE initiative aims to expand these individualized treatment strategies to patients
with more genetically complex inflammatory and autoimmune diseases. By comparing
comprehensive biological data from different patients, PROMISE seeks to identify patterns
and repurpose existing drugs to improve treatment outcomes. The consortium behind
PROMISE consists of experts in clinical science, epigenetics, bioinformatics, and diagnostics.
They plan to use existing collections of biological data as well as generate new data that will
contribute to the understanding of the complex mechanisms that take place in people with
genetic defects in the immune system. These datasets encompass various types of
information, each focusing on a different aspect of biology such as which cells and genes are
active at a given disease state, or how a cell responds to different treatment conditions.
These datasets can reveal detailed information about disease mechanisms, potential
biomarkers for diagnosis, and targets for new drugs. PROMISE aims to harness this
information to create better, personalized treatments for people dealing with more complex
immune-related diseases such as chronic inflammation and autoimmune disorders.