| Title: | Computational approaches to understanding the full spectrum of variant effects in rare disease and common neurological traits. |
| Lead Institution: | University of Oxford |
| Principal investigator: | Dr Nicola Whiffin |
Application 81050
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About
Knowing the precise genetic change that causes disease in an individual is of huge importance to both a patient and their family. This enables screening of other family members to identify those also at risk, prenatal screening, and can lead to personalised treatments. Current approaches to search for these causative genetic variants (or 'genetic diagnoses') are only successful in around half of all individuals with a rare disease. These approaches focus only on regions of DNA that directly encode proteins, however, these regions only comprise ~1.5% of the total genomic DNA. Our research aims to increase our understanding of variants in other regions of the genome, so called 'regulatory regions' that modify the amount of proteins that are produced, when they are produced, and where they are located in the cell. Through this work we aim to increase the 'search space' for genetic diagnoses and hence enable a causative variant to be identified in more individuals with rare disease. In another branch of research we are interested in two common neurological traits that affect social perception and memory. The first of these is prosopagnosia, or face-blindness, which is the inability to recognise faces. The other is aphantasia, which is a complete absence of mental imagery (i.e. being unable to either form or recall images in the mind). Both of these traits are common, occurring in ~2-5% of the population, however, we know very little about the genetic variants that influence these traits. Our research will uncover genetic variants that are involved in these traits, enabling us to discover more about the underlying biology and connections to other neurological conditions.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 18059 | Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders | Joachim De Jonghe (+43) | 2026 | Nature |
Enabling scientific discoveries that improve human health