Longdom Conferences

Speaker

September 29, 2021    ,

6th Webinar on Human Genetics

Human Genetics
1

Human Genetics

UK

Title: Human Genetics

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News

New resource to advance genomics-driven precision medicine

2021-09-02 - 2021-09

By analysing genomic data from more than 30,000 people, an international team has revealed thousands of new regulatory regions that control disease-linked genes -- a resource that is now available to researchers worldwide. The findings, co-led by the Garvan Institute of Medical Research and published today in Nature Genetics, are a significant step forward for genomics-driven precision medicine and could help identify markers that reveal which patients will benefit most from which treatment. "In this study we have provided an entirely new view of genetic regulation by uncovering an in-depth picture of how genes and disease are linked. It is the most comprehensive analysis of how human genetic variation affects gene expression to date," says co-senior author Associate Professor Joseph Powell, Director of the Garvan-Weizmann Centre for Cellular Genomics and Deputy Director of the UNSW Cellular Genomics Futures Institute. "Our discovery provides researchers an entirely new perspective on their genes of interest, and will help prioritise genes that may be more relevant for therapeutic intervention. It could also lead us to better markers for tracking disease progression and the efficacy of medicines," says co-senior author Professor Lude Franke from the University Medical Centre Groningen, Netherlands.

New, one-stop method developed to avoid de novo genetic disease in embryos

2021-08-31 - 2021-08

De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have. Where a disease-causing DNV is present in one parent, the risk of passing it to a child can be as high as 50%, and being able to identify healthy embryos for transfer to avoid an affected pregnancy is clearly a high priority. To achieve this goal, identification of the group of genes inherited from one parent (the haplotype) that is linked with the mutation is necessary to transfer only healthy embryos. Until now this has been a difficult process and can often involve multiple embryo biopsies, which in themselves carry a risk. But a group of Belgian researchers has developed a new, one-stop method using DNA from the parents of the affected prospective parent (the embryo's/child's grandparents). They will present their findings to the annual conference of the European Society of Human Genetics today (Tuesday). Dr Eftychia Dimitriadou, Head of the Reproductive Genetics Unit at the Centre for Human Genetics, Leuven University Hospital, Leuven, Belgium, and colleagues recruited 22 couples where one of the partners carried a DNV mutation causing a Mendelian disorder. A Mendelian disorder is normally, but not always, caused by alterations in a single gene. Current practice for pre-implantation genetic testing (PGT) embryo selection for such couples is complicated, says Dr Dimitriadou. "It involves targeting a specific gene, and therefore important genome-wide information is missing."

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