Katrin Sak – ASPER
Asper Biotech Ltd, Tartu, Estonia


Institute description
Asper Biotech is an Estonian biotech company. It was founded in 1999 starting with 4 scientists, and has now become the biggest biotech exporter in Estonia employing more than 35 people. Since its establishement Asper has expanded its expertise in developing customized SNP/mutation screening assays. The company has the bioinformatics expertise to design the assays and to analyze and validate the results. Asper collaborates with high ranking scientific centres, which include Stanford University, Columbia University, International Agency for Research on Cancer, Norwegian Radium Hospital, Baylor College of Medicine, as well as international biotech and pharmaceutical companies. In addition, Asper has a specialty in genetic testing of ophthalmic disorders, including tests for Stargardt disease, Leber Congenital Amaurosis, USHER Sydrome, Retinitis Pigmentosa. Asper introduced the ISO 9001 quality control system in 2000; presently the lab process work and management are controlled by the system. A specially-developed LIMS is in place for tracking lab processes.

Group leader
Katrin Sak was awarded a PhD in Bioorganic Chemistry at the University of Tartu, Estonia, in 2001. Her training continued as a Post-doctoral Fellow at the Institute of Interdisciplinary Research, Free University of Brussels, Belgium. She is first author of 17 and co-author of 7 scientific papers published in internationally renowned journals, as well as author of 13 scientific conference theses.

Asper has developed and validated a number of ophthalmologic genetic tests, including a test for screening more than 450 mutations related to Leber Congenital Amaurosis and more than 500 mutations associated with Retinitis Pigmenosa. Both chips have been validated by screening thousands of DNA samples. An ISO 9001:2000 certified lab including complete equipment required for performing the studies planned in AAVEYE project will be available for the project. Together with Maigi Külm, Katrin Sak has developed numerous tests by APEX technology. Both scientists are currently active in ophthalmic screening projects and thereby have experience in processing thousands of samples.

Role in the project
Asper will be involved in: i. customizing the LCA and ARRP chips for the AAVEYE project (adding additional mutations if required); ii. screening of DNA samples by LCA test, and iii. screening of DNA samples by ARRP test.

Key personnel

Name Title Gender Role/Expertise
Katrin Sak Group leader F Coordinator
Maigi Külm MSc ??? Chip development, screening of DNA samples
Ãœlle Murumets MD F Screening of DNA samples

Key publications

Cremers FP, Kimberling WJ, Kulm M, de Brouwer A, van Wijk E, Te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, Debaere E, Leroy BP, Silvestri G, McKay G, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H (2007). Development of a Genotyping Microarray for Usher Syndrome J Med Genet 44: 153-160.

Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R (2005). Genotyping microarray (disease chip) for leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci 46: 3052-3059.

Jaakson K, Zernant J, Kulm M, Hutchinson A, Tonisson N, Glavac¡ D, Ravnik-Glavac¡ M, Hawlina M, Meltzer MR, Caruso, RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FPM, Allikmets R (2003). Genotyping Microarray (Gene Chip) for the ABCR (ABCA4) Gene Hum Mutat 22: 395–403.