Jeans for Genes Day is this Friday 7 August. It is time to find that denim jacket that has been hiding in the back of the cupboard since last year, ditch the work clothes, and help raise money for the Children’s Medical Research Institute.
It has been a year full of progress in the field of Genetics over the past 12 months. There are many research projects around the world that are contributing to the increased knowledge about genetic conditions.
Hunter New England’s Lower Mid-North Coast Genetic Counsellor, Mr Bruce Hopper said research groups are offering genomic based testing that has led to a 27% increase in diagnostic rates for people with developmental delay.
‘While the researchers are able to do a lot of fantastic work, it is still a little while off for the local genetic services to be able to offer such a level of investigations’, Mr Hopper said.
‘New diagnostic tests are constantly becoming available for genetic services to use. A few years ago we had to ask a specific lab to test for a specific gene, however there are now labs that are testing over 600 genes for specific conditions’, he said.
With innovation in the field becoming more prevalent Mr Hopper was recently in Ireland following up with colleagues who are engaged in a similar multimedia project as Hunter New England Health.
‘We are both trying to find innovative ways to increase the understanding of genetic inheritance through the use of multimedia’, Mr Hopper said.
‘In Ireland they are making a number of videos and putting them on YouTube. Locally we are evaluating the videos Hunter England Health has made and measuring the usefulness. We are sharing the different methods being used’, he said.
Jeans for Genes Day is a great way that you are able to help assist genetic research. In the latest edition of “Under the microscope” from the Children’s Medical Research Institute, researchers have presented their research into blindness and why it occurs.
One research group has been able to map their results in a graph (attached). It shows a number of conditions and where in the Human Genome there are genes that can lead to that feature. The red lines show were Intellectual disability genes are located – all over the genome.
‘That is why it is such a complicated job trying to establish the underlying causes of why a person may have intellectual difficulties’, Mr Hopper said.