Published: 09-11-2012 00:00 | Updated: 26-11-2013 10:29

KI/SciLifeLab team finalists in Boston Children's Hospital's competition

[NEWS 8 November 2012] Science for Life Laboratory (SciLifeLab) and Karolinska Institutet (KI) were among the top eight teams in the Boston Children's Hospital's CLARITY challenge. The team got an honorable special mention as one of eight finalist teams, who managed to solve two out of three genetic mutations in the cases of three children that suffer from disorders with unknown genetic cause. The team also suggested appropriate follow up tests for the third case.

"We were pleasantly surprised to get a joint 4th- 8th place out of 30 international teams", says Mikael Huss, coordinator of the team and bioinformatics scientist within the SciLifeLab genomics platform. "It feels great to know that we are internationally competitive when it comes to analyzing and interpreting clinical genomics data."

The winners of the CLARITY challenge were announced at the American Society of Human Genetics (ASHG) annual meeting in San Francisco on November 7th. Daniel Nilsson, hospital geneticist who divides his time between research and clinical work at Karolinska University Hospital, was there as the representative from the SciLifeLab/KI team.

"For me, it truly felt great to hear the mother of one of the patients express her relief after 11 years of worry and struggle for a diagnosis", says Daniel Nilsson. "We have just begun introducing these kinds of tests to patients in the clinic after a period of research use and placing ourselves this high in competition with teams from well-established and renowned groups in the field is a true sign of quality."

The ten person strong team has a mix of technical competence from SciLifeLab and clinical genetics competence from the Karolinska Institutet and Karolinska University Hospital. Captain of the team has been Dr Anna Wedell, Professor of Medical Genetics at Karolinska Institutet.

"Due to the already established collaborations between clinicians at Karolinska Institutet, Karolinska University Hospital and the genomics platform at SciLifeLab it was relatively easy to assemble a team and get started", says Mikael Huss. "It seems to have been important to have clinical competence in the team as most of the top eight teams in the challenge included members from hospitals or clinical research institutes."

"Integrating bioinformatics and medical knowledge is key to finding genetic causes for rare disease we could not previously address in the clinic", says Daniel Nilsson. "It holds great promises for our continuous work in the cross-disciplinary environment at SciLifeLab."

Facts about the CLARITY challenge

The CLARITY (Children's Leadership Award for the Reliable Interpretation and Transmission of Your genomic information) Challenge is a competition led by Boston Children's Hospital, intended to advance standards for genomic analysis and interpretation and the reporting of clear, actionable results to clinicians and patients. Competitors have been tasked with discovering the unknown genetic basis of the disorders faced by three pediatric patients and, in the process, create best practices for interpreting and presenting genomic sequence results to patients and their families and physicians in meaningful ways that can help guide healthcare decisions.

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