| Title: | Exploring the genetic basis of healthy development and ageing: gene discovery and methods development. |
| Lead Institution: | Walter & Eliza Hall Institute of Medical Research |
| Principal investigator: | Professor Melanie Bahlo |
Application 36610
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About
Our lab has a focus on a number of diseases related to the nervous system, immune system, and infections. All of these diseases are major drivers of global public health and are key causes of disability and disadvantage in people of all ages. In children, these include neurodevelopmental disorders such epilepsy, stuttering and autism, which can result in difficulties with language and speech, motor skills, behaviour, and other neurological functions. Whilst in adults, we investigate diseases affecting the immune system and neurodegenerative conditions such as ataxias and dementia, which are leading causes of disability and death. With the UK Biobank data, over three years, we intend to develop and utilise novel methods to discover genes and loci relevant to these disorders of development and ageing. Identification of new disease-related genes could lead to lead to improved prediction of disease risk and progression, allow for more targeted treatment and identification of drug targets. Specific Aims: 1. Use UK Biobank as a resource for replication and exploration of findings from ongoing genome-wide association studies of disorders of development and ageing. 2. Use UK Biobank for the development of novel methods. These include exploring methods for detecting expanded short tandem repeats, leveraging evolutionary information for examining disorders affecting communication and cognitive development, and brain gene co-expression approaches. 3. Utilise these novel methods for further disease-gene discovery. A better understanding of the genetics underlying these disorders is key for reducing the burden of disease and improving health throughout the life course.4 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 8110 | A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure | Bronwyn E Grinton (+13) | 2022 | American Journal of Human Genetics |
| 9994 | Decreased circulating very small low-density lipoprotein is likely causal for age-related macular degeneration | S. Farashi (+5) | 2024 | Ophthalmology Science |
| 7076 | Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment | L. G. Fearnley (+2) | 2022 | Scientific Reports |
| 9564 | Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder | Roberto Bonelli (+12) | 2021 | Communications Biology |
Enabling scientific discoveries that improve human health