Clinical Genetics at SciLifeLab

How new technologies could be introduced into clinical practice and how data storage and safety can be dealt with was some of the topics of the Clinical Genetics Day, organised by SciLifeLab. Kerstin Lindblad-Toh, Director of SciLifeLab in Uppsala, opened the seminar.

During the day both scientific topics, as well as ethics related to personal genome testing, were discussed. Invited speakers were: Niklas Dahl, Claes Wadelius, Ulf Gyllensten and Ola Spjuth from Uppsala university. Magnus Nordenskjöld, Anna Wedell and Yvonne Brandberg from Karolinska Institutet.

At the end of the day Anders Alderborn och Krister Halldin, EU- coordinators at Uppsala university, discussed the potential for SciLifeLab to apply for different EU-programs.

2011-05-11
SciLifeLab host for the Uppsala BIO-pub

The Uppsala-BIO pub the 11th of May was well attended, around 130 people came and listened to the evening’s host, SciLifeLab.

During the evening both researchers and management from the SciLifeLab-team attended. Speakers were Maria Sörby, site director, and Ulf Landegren, vice director, both from SciLifeLab Uppsala, and also Jan Hörling from GE Healthcare.

Initially, the SciLifeLab organization, both at the management level and the technical platforms, were presented by Maria Sörby. Building the infrastructure surrounding the research is important for SciLifeLab, but also facilitating interdisciplinary research and initiating new types of research collaborations, both within the academia and all universities in Sweden, and also with industry and healthcare.

Ulf Landegren, vice director of SciLifeLab Uppsala, spoke about the techniques available within SciLifeLab. He also showed the different platforms available in Uppsala, which are already established since several years back and are run by experienced managers. He also stressed the importance of this type of greater cooperation, especially in an international competition.

After the presentations there was time for some refreshments and opportunities to meet people both from the academia and industry. Many took the opportunity to ask questions about SciLifeLab. There was also an opportunity to read about the activities of the nine technology platforms, which were presented on posters.

Wrinkled dog is key to new direction within inflammation research

An international research team led from Uppsala University and the Broad Institute of MIT and Harvard has discovered the gene underlying the characteristic wrinkled skin of the Shar-Pei dog. The same gene has been shown to be associated with a chronic fever condition that often afflicts members of the breed. The findings, which are interesting from a human health standpoint, were published today in PLoS Genetics.
Purebred dogs are bred on the basis of specific physical and behavioural characteristics. The selection process increases the likelihood that certain gene variants will be passed on, along with the risk for undesirable health issues.

The Shar-Pei’s thickened and wrinkled skin contains excess hyaluronic acid, probably due to over-activation of the HAS2 gene, one of the genes that govern production of hyaluronic acid. Members of the breed are often afflicted with a recurrent fever-like condition that bears resemblance to an auto-inflammatory fever condition in humans.

Researchers compared the breed’s genetic code with that of other breeds. They also compared the genetic code of healthy and afflicted Shar-Pei dogs. Both studies generated interesting results relating to the DNA region in which the HAS2 gene is located. In Shar-Pei dogs, multiple identical copies of a certain DNA segment were found in the proximity of this gene. No such duplications are present within other breeds.

“It was exciting to discover that the illness and the wrinkles share a genetic background,” says Mia Olsson, a doctoral student and the first author of the publication. “Multiple copies of the segment in the region in question increase the likelihood of the disease, which is probably caused by excess hyaluronic acid.”

The study also sheds light on the more general significance of hyaluronic acid for inflammatory diseases. The genetic background of approximately 60 per cent of cases involving certain human fever syndromes is unknown, making the connection between fever conditions and impaired control of the HAS2 gene very interesting.

“The findings open up a whole new area of research into inflammatory diseases in dogs and humans,” says Kerstin Lindblad Toh, director of the Science for Life Laboratory in Uppsala and a scientific director at the Broad Institute. “We have begun looking for the same mutation in human patients.”

The project was pursued within the framework of the Science for Life Laboratory (SciLifeLab) collaborative research initiative at Uppsala University. The study also involved collaboration with the Swedish University of Agricultural Sciences (SLU).

For more information, please contact:

Kerstin Lindblad Toh
Tel: +46-18-471 43 86 or +46-70-324 23 36
E-mail: kerstin.lindblad-toh@imbim.uu.se (currently in the U.S.)

Åke Hedhammar
Tel: +46-18-67 13 55