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Approved Research

Mutational Spectrum of Causal Genes for Neurological Disorders Identified via High Resolution Genome Wide Copy Number Analysis

Principal Investigator: Dr Eli Hatchwell
Approved Research ID: 85909
Approval date: April 6th 2022

Lay summary

Most of the common conditions that affect large numbers of the general population have a genetic basis. While progress has been rapid in the field of cancer, the same cannot be said for common, non-cancer, conditions, such as Alzheimer's Disease and Parkinson's Disease. In the area of cancer, our understanding of the specific causes of different types of cancer, has allowed us to develop highly specific and effective therapies that have transformed the outlook in such patients. Sadly, progress in understanding other conditions has been slower, partly for technical reasons but also because these conditions have long been considered to represent single entities. However, just as one form of breast cancer is different to another form, it is pretty clear now that not all cases of Alzheimer's or Parkinson's represent the same disease, in terms of what is causing them.

Our approach has been to consider common diseases as collections of rare subgroups, each of which has a specific cause and which, in due course, will have a specific treatment. We have pioneered and implemented a method to rapidly uncover potentially causal genes in common disorders and will use the data generated by the UKBB to confirm and strengthen our discoveries. Our focus will be in 3 main areas, all united by their involvement of the nervous system (so called neurological disorders):

Autism Spectrum Disorders (ASD)

Parkinson's Disease (PD)

Late-Onset Alzheimer's Disease (LOAD).

We have made discoveries in each of these conditions and will strengthen our discoveries via access to the DNA sequencing data present in UKBB.

Our project will run over 3 years and will generate a very detailed knowledge base which will allow us to:

  1. Define subsets of disease;
  2. Work with pharmaceutical companies to develop drugs that will specifically target each subset of disease. In some cases, disease progression will be halted by the therapies developed. In some cases,  reversal and/or cure will be possible

While it may take years to move from a specific understanding of the causes of a disease to treatments, one thing is clear: without a specific understanding of what causes these common diseases, it will be impossible to develop specific treatments. Current treatments are non-specific and, in most cases, do not work.