Population Genetics Collaborates with Cambridge University to Unravel the Genetic Causes of Asperger Syndrome
News Jul 09, 2012
Under the agreement Population Genetics will undertake the genetic analysis and retain rights to commercialise any biomarkers discovered. Results of the study are expected during 2012.
The study is based on 1000 samples, half of which are from people with high functioning autism or Asperger Syndrome, and half are from controls. In this study, Population Genetics will be applying its proprietary Reflex™ technology that allows variant discovery along a discrete contiguous target in large populations.
The study uses buccal (mouth swab) samples, which are less invasive to collect than blood samples: having a technology such as Reflex™ which can make use of buccal samples is important for the large population studies in which Population Genetics specialises.
Professor Simon Baron-Cohen, Director of the Autism Research Centre (ARC) at Cambridge, said: “Most genetic studies have focused on classic autism but the genetics of high-functioning autism may yield valuable insights because these are individuals who do not have associated learning disability or language delays. Working with Population Genetics gives us an exciting way to test our previous findings that variations within these two genes are associated with high functioning autism or Asperger Syndrome.”
Dr Bhismadev Chakrabarti, Director of Genetics at the ARC, said: “These genes are prime candidates for helping us understand abnormalities in sex-steroid hormones and neural connectivity respectively”.
This study is one of a number being conducted by the ARC to examine if single nucleotide polymorphisms (SNPs) in these candidate genes differ in their frequency between cases and controls; or if these SNPs are associated with phenotypic measures that the ARC has developed, such as the Autism Spectrum Quotient. Another of the ARC’s goals is to test if the same or different associations are found in Asperger Syndrome and classic autism.
Alan Schafer, CEO of Population Genetics, commented: “We are pleased to be working with Professor Baron-Cohen on a syndrome of such genetic and symptomatic complexity. Unravelling the underlying genetic contributions could provide a path towards a better understanding of causation and potentially to markers to guide further investigation.”
CRISPR Reveals New Targets for Promising Cancer DrugsNews
Novel screening method identifies new drug targets that could potentially enhance the effectiveness of PD-1 checkpoint inhibitors, a promising new class of cancer immunotherapy.READ MORE
Study Indicates 75% of Human Genome is Non-functionalNews
An evolutionary biologist at the University of Houston has published new calculations that indicate no more than 25 percent of the human genome is functional.READ MORE
Molecular Mechanism That Enable Neuronal Connections to Change With Development DiscoveredNews
Researchers from King's College London have discovered a molecular mechanism that enables neuronal connections to change through experience, thus fuelling learning and memory formation.READ MORE
Comments | 0 ADD COMMENT
EMBL Course: Next Generation Sequencing: RNA Sequencing Library Preparation
Apr 23 - Apr 27, 2018
EMBO Practical Course: Microbial Metagenomics: A 360º Approach
Apr 23 - Apr 30, 2018
EMBL Course: Next Generation Sequencing: Whole Genome Sequencing Library Preparation
Apr 16 - Apr 20, 2018
EMBO Workshop: Integrating Systems Biology: From Networks to Mechanisms to Models
Apr 15 - Apr 17, 2018
EMBL Course: Introduction to Next Generation Sequencing
Apr 09 - Apr 12, 2018