The Irish Society of Human Genetics will host its’ 12th Annual Scientific meeting on Friday the 18th September at Dublin City University (see http://irishsocietyofhumangenetics.blogspot.com/). This year’s meeting promises to be particularly exciting with two internationally renowned keynote speakers and the latest research from Irish geneticists. Dr. David Fitzpatrick from the MRC Human Genetics Unit, Western General Hospital, Edinburgh will give the first keynote address describing his research which aims to identify the genes responsible for human developmental conditions such as eye/limb disorders and cleft lip/palate. Dr. Elaine Ostrander from the National Human Genome Research Institute, National Institute of Health will present the second keynote address detailing her laboratory’s research of both dog and human genomes in a bid to identify cancer susceptibility genes (see http://www.genome.gov/12513335). Some of the highlights from our Irish researchers include:
• Kathy Nolan will present work carried out at the National Centre for Medical Genetics on developing a new genetic test for hereditary haemochromatosis (HH). HH is a disorder in which too much iron is absorbed from the diet. Accumulated iron can damage the liver and heart leading to long-term illness and even death. The new test was used to test almost 600 anonymous blood donors for common changes in the HH gene. Almost half those tested had a change in at least one of their HH genes and 1 in 15 had a genotype that could predispose to iron overload. The results indicate that at least 250,000 people in Ireland carry changes in the HH gene that could raise their risk of iron overload. Professor David Barton, Chief Scientist at the National Centre for Medical Genetics and leader of the study said “It is ironic in light of these results that NCMG had to cease testing for HH in 2008 because of staff shortages. We could not cope with the demand for testing. Hospitals around the country must now send their samples abroad for haemochromatosis testing”.
• Graeme Clark will present research carried out at Queen’s University Belfast and led by Dr. David Simpson, which illustrates how the latest genetics technology is allowing rapid screening of a hereditary visual disorder known as Retinitis Pigmentosa (RP). Mutations in a total of 46 genes are implicated in this disorder, making patient screening extremely difficult. This new method will allow the simultaneously screening of all 46 genes delivering a rapid genetic diagnosis for patients.
• Research into the genetics of Autism is being presented by Naisha Shah (UCD) and Richard Anney (TCD) and led by Dr. Louise Gallagher, Prof. Michael Gill (TCD), Prof. Andrew Green (NCMG) and Dr. Sean Ennis (UCD). Autism and autism spectrum disorders (ASD) are neurodevelopmental disorders that affect approximately 1 in 150 individuals and are characterized by deficits in reciprocal social interaction, communication and patterns of repetitive behaviours and restricted interests. Naisha Shah will present a study which examined the DNA of autistic patients from both Ireland and Portugal in order to examine a type of DNA change known as copy number variation or CNVs. CNVs, as their name suggests, are common in humans and basically mean that some individual’s have more or less than the usual 2 copies of certain genes. The analysis of these variants allowed the researchers to track which parent passed on which gene copy and will provide further insight into the genetic origins of autism. Dr. Anney will present a study on behalf of The Autism Genome project where a number of genes have been identified as contributing to autism in a primary analysis and the results of a replication analysis will be presented.