Diseases
"We need 10,000 genomes to start to understand the link between genetics, disease and wellness"
Craig Venter
- The Genetics of ”Super Powers”
- COVID19
- Decoding genetics & treatment of rare diseases
- Mapping novel DNA repair genes
- Toxic RNA (in neurodegenerative diseases)
- Decoding genetics & treatment of Rett syndrome
- Predicting pathogenic variants (in genetic diseases & breast cancer)
- Experimental evolution to resolve pathogenic penetrance
Diseases
We aim to identify the genetic basis of inherited diseases and find available drugs to treat patients. We are studying cancer and rare, orphan diseases such as RETT syndrome and aim to understand the role of RNA toxicity in repeat expansion diseases such as myotonic dystrophy. Through understanding the genetic basis of these diseases, we aim to repurpose drugs to offer treatment. Lastly, we are looking for the genetic basis of cancer predisposition syndromes caused by mutations in genes such as BRCA1 and BRCA2.
Genetic Diseases
For many hereditary diseases the genetic basis is unknown. Sometimes the disease causing gene is identified but its function or the pathway by which it causes the disease is uncharacterized. At other times it is hard to assess the importance of a variant to the development of the disease.
Our research aims to use comparative genomics and massive omics to understand the genetic basis of orphan diseases.
Cancer
We focus on the genetic basis of cancer. We aim to identify genes and variants which either increase or decrease the risk of cancer.
Specifically we search for the genetic basis of cancer resistance in species such as the naked mole rat. We also assess the importance of variants (e.g. in BRCA1 and 2) to cancer risk. Finally, we look for genes involved in DNA repair, mutations in which increase the risk of cancer.
Drug Repositioning
Drug repositioning holds great promise of reducing time from bench to bedside, and therefore costs of drug development and authorization. Using our unique comparative genomics discovery platform we aim to identify the disease causing genes of hereditary diseases, and build the gene network to find drug targets in the gene’s proximity.
We also hope to also treat conditions such as RETT Syndrome and COVID19 through identifying gene targets for known drugs in the related genes’ networks.