Jayne Hehir-Kwa Ph.D.


General Information

Street / P.O. BoxGeert Grooteplein 10, 848
Zip code6525 GA
CountryThe Netherlands
E-Mail Jayne.Hehir-Kwa@radboudumc.nl
Phone number(s)+31 (0)24 3613864
Fax+31 (0)24 3668752

More Information

"My undergraduate degree is from the University of Western Australia, in Computer and Mathematical Sciences (Hons). I started working for the Genomic Disorders group in 2005 as a bioinformatician, working on structural variation in patients with intellectual disability. After which in 2010 I received my PhD in Medical Sciences from Radboud University Nijmegen under the supervision of Prof. Dr. Ir. Joris Veltman, Prof. Dr. Ad Geurts van Kessel and Prof. Dr. Han Brunner on “From Copy Number Identification to Copy Number Interpretation”.

Soon after starting work in the Genomic Disorders group at Radboudumc I became interested in structural variation. Initially most of my focus was on indentifying and interpreting copy number variants from microarray data. But with recent developments in next generation sequencing, this has expanded to include the many other forms of structural variation occurring within our genomes (for example mobile element insertions). My primary aim is the identification of variants involved in developmental disorders such as intellectual disability. But I am also actively involved in the Genome of the Netherlands project where we are studying structural variation in a general population. I am currently working on combining structural variation with single nucleotide variants to assess the impact of multi-genic variants in intellectual disability."

Projects Involved

Genomic copy number variation,
Identifying dosage sensitive genes causing mental retardation

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