July 2014

ACoRD Collaboration with NextCODE Takes Aim at Genetic Causes of Autism and Rare Diseases

Fri, 11 July 14 09:00

A recently forged partnership will enable the UCD Academic Centre on Rare Diseases (ACoRD) to use NextCODE* solutions to take full advantage of the latest sequencing technologies to improve the diagnosis and understanding of autism and rare diseases. This will include utilising NextCODE’s Clinical Sequence Analyzer™, to identify causal mutations in families with a range of rare disorders, along with Sequence Miner and the GOR™ database infrastructure to mine whole-genome data for novel sequence variants linked to autism spectrum disorders.

Speaking about the announcement, Dr Sean Ennis, director at ACoR said

This partnership is key to our strategy of building on ACoRD’s reputation in rare genomics to establish ourselves as a centre of excellence in this field. Sequencing is a powerful means to identify the causes of disease, but it requires the ability to efficiently store and query truly vast amounts of data. NextCODE’s system has done this on an unparalleled scale, and can deliver diagnoses on a case-by case basis and enable large-scale discovery efforts.

Dr Ennis and his colleagues work and publish on a range of genetic diseases, with a particular recent focus on autism. He co-founded the Irish Autism Genetics Collaboration and sits on the research committee of the international Autism Genome Project. More recently he established a Research Centre dedicated to studying Rare Genetic Diseases.

Jeffrey Gulcher, MD, PhD, president, CSO and co-founder of NextCODE also expressed his enthusiasm about the partnership

UCD is renowned as both a clinical and research organization, enabling them to exploit the breadth of our system’s potential. We are very pleased that they have selected our platform to tackle their most challenging cases and to underpin the use of NGS in their ongoing diagnostics and gene discovery programs.

 

*NextCODE Health is a sequence-based clinical diagnostics company which puts whole-genome analysis in the hands of clinicians and researchers worldwide.