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NEWS of 2007

11.2007 The Estonian Biocentre (EBC) and Asper Biotech Ltd signed a licencing agreement that authorises Asper Biotech to use „Analysis Method of Risk Alleles for estimation of predisposition of Inheritant Breast and Ovarian Cancer“ which has been recognised as a utility model.

The utility model describes recently discovered risk alleles in the Estonian population as well as their analysis, together with the risk alleles of breast and ovarian cancer, which have already been described in public databases.

Asper Biotech Ltd is a spin-off company of the Estonian Biocentre and Tartu University, established in 1999 and specialised in genetic test development and offering the service of DNA analysis. The establishment’s services are available in over 30 countries, being the biggest exporter in the Estonian sector of biotechnology.

The Estonian Biocentre (EBC) was established in 1986 by the decree of the government as a state owned scientific and educational institution. The main research direction of the EBC lies in the field of molecular medicine and is linked to biotechnology.

The genetic test has been developed for screening mutations of three forms of CSNB: autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) CSNB. Currently the test can be used for screening of 126 mutations in 9 genes: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F and CACNA2D.

Development and chip validation experiments have been performed in collaboration with the Institute of Medial Genetics of University of Zürich.

12 new mutations can be analyzed by  AD-RP  chip. Currently the test can be used for the screening of  353 mutations in 13 genes: CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9 and CRX.

10.2007 Asper Ophthalmics announces the availability of its new Corneal dystrophy test

Currently the test can be used for screening of 229 mutations in different genes: COL8A2, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2. Genetic variations in the 9 listed genes have been associated with several corneal dystrophies, which are linked to epithelium, stroma and endothelium.

Development of the chip has been performed in collaboration with Columbia University.


09.2007 Thalassemia mutations detection test updated

The Thalassemia assay has been updated by adding 52 new mutations to the test. The current test version covers 90 mutations from beta-globin, delta-globin and glucose 6-phosphate genes.

For further questions please contact Asper Biotech info@asperbio.com

08.2007 Leber congenital amaurosis (LCA) microarray chip updated.

28 new mutations and 1 new gene (TULP1) can be analyzed by  LCA  chip. Currently the test can be used for the screening of 451 mutations in 11 genes: AIPL1, CRB1, CRX, GUCY2D, LRAT, MERTK, CEP290, RDH12, RPGRIP1, RPE65 and TULP1.

07.2007 Autosomal dominant optic atrophy (OPA1 gene) test is available

Autosomal dominant optic atrophy (OPA1 gene) test enables to analyze 118 genetic variations within OPA1 gene. The chip is designed in collaboration with Dr. Marcela Votruba from Cardiff University, School of Optometry & Vision Sciences (United Kingdom).

05.2007 New publication co-authored by Asper scientist was published:

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
Diana Valverde, R. Riveiro-Alvarez, Sara Bernal, Kaie Jaakson, Montserrat Baiget, Rafael Navarro, Carmen Ayuso
Molecular Vision 2006; 12:902-908
Purpose: To evaluate, in a pool of affected families, the mutation spectrum in Stargardt patients from Spain, using the ABCR400 microarray that contains described sequence variants in the gene encoding for the photoreceptor specific ATP-binding cassette transporter (ABCA4).
Methods: We analyzed 76 Spanish patients with STGD1 for a population-specific survey on the sequence variations in the ABCA4 gene, using the ABCR400 microarray.
Results: Potential disease-associated alleles were identified in 91 of the 152 STGD1 chromosomes studied, resulting in a detection rate of 60%. The two mutant alleles were found in 33/76 patients (43%), whereas in 25/76 cases (33%) only one allele could be identified. In the remaining 18 patients no mutations were found. In total, we identified 40 sequence variations that could be related to the disease. The vast majority of these substitutions (35/40) were missense mutations. Three frameshift mutations and two splicing variants were also found.
Conclusions: We identified a major disease-associated allele, R1129L, which accounted for 24% of the mutated alleles detected, and a high frequency (12%) of complex alleles.
 

04.2007 Asper Ophthalmics will be represented at the ARVO 2007 in Fort Lauderdale, Florida, USA, on May 6-May 9.
 
As last two years, Asper will be represented at the meeting of the Association for Research in Vision and Ophthalmology (ARVO) 2007. The meeting will be held in Fort Lauderdale, Florida, USA on April 6-May 9. Asper welcomes all existing partners and everyone interested in collaboration with Asper to attend the conference and meet in its booth #800.
 

02.2007 From the 8th of February till the end of the month we are offering the slides with a discount.

The new quantity discount has been set up as follows:
More than 100 - discount -10%
More than 500 - discount - 15%
More than 1500 - discount - 20%
  

02.2007 New chip - The Ashkenazi Jewish diseases chip - is available
  
Asper has a pleasure to introduce new DNA chip for determination of mutations related to Ashkenazi Jewish diseases. The chip developed by Asper, includes selection of 83 mutations in 16 different genes related to Cystic Fibrosis, Tay Sachs, Bloom -, Canavan -, Niemann-Pick A syndrome, Familian dysautonomia, Torsion dystonia, Mucolipidosis IV, Fanconi Anemia, Factor XI deficiency, Glycogen storage disease, Marple Syrup Urine disease, Nonsyndromic sensorineural hearing loss, Familial mediterranean fever. For further information regarding the mutation list please contact Asper Biotech.

This chip has been established in collaboration with Reprogenetics Research, LLC (Chicago, IL, USA) and Stanford University (Stanford, CA, USA).

01.2007 New tests will be launched soon
  
Asper continues to work on the development of new genetic tests for numerous ophthalmologic diseases in 2007. Asper Ophthalmics has plans to introduce six new tests this year and updates the existing tests. During the first three months two new tests will be launched for screening of genetic variations related to Best disease and Congenital Stationery Night Blindness. Both tests will cover approximately 100 mutations. Further information regarding the content will follow soon.