Endocrine and Metabolism GeCIP Domain

Description

Background: All the chemical reactions in our cells that convert or use energy, including nutrients, can be defined as metabolism.  In metabolic disorders this process is disrupted. In endocrine diseases, the way that cells in the body communicate with each other through the bloodstream malfunctions.

There are hundreds of rare inherited metabolic and endocrine diseases that have serious effects on health and quality of life. Many are diagnosed late and there are few highly effective treatments.

8,000 families with rare inherited metabolic and endocrine diseases will be included in the 100,000 Genomes Project.

Aims: The researchers will use the data from whole genome sequencing to improve understanding of what causes inherited metabolic and endocrine syndromes. This work will form the basis of future studies to develop new treatments.

Specific aims:

  1. Develop bioinformatics algorithms to classify inherited metabolic and endocrine disorders into groups.
  2. Identify new genes that cause disorders. Establish clinically useful risk scores to allow NHS diagnostic testing, prediction of disease and severity.
  3. Study disease mechanism.
  4. Invite affected individuals for further metabolic and endocrine testing. This will help the researchers better understand how disease impacts on physiology.
  5. Use collaborations with the biotech and pharma industry to develop new approaches to treatment.
  6. Work together with other GeCIP domains and NHS Genomic Medicine Centres to train the next generation of scientists, technologists and clinicians in genomic medicine.
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