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NEWS
05.2008 Asper
Ophthalmics has updated the BBS chip.
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new positions have been added to the BBS chip. Currently the test can be
used for screening 307 mutations in 14 genes: BBS1, BBS2, BBS3, BBS4, BBS5,
BBS6, BBS7, BBS8, BBS9, BBS10, BBS12, PHF6, ALMS1 and GNAS1.
04.2008 Asper
Ophthalmics will be represented at the 15th Retina International World
Congress "Research into practice" with its exhibition stand.
The
congress will be held in Finlandia Hall, Helsinki, Finland on 4th-5th
July, 2008. Asper welcomes all existing partners and everyone interested in
collaboration with Asper to attend the congress and meet in its booth.
03.2008
Leber congenital amaurosis chip updated
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new mutations and 1 new gene (LCA5) can be analyzed by LCA
chip. Currently
the test can be used for the screening of 495 mutations in 12
genes: AIPL1,
CRB1, CRX, GUCY2D, LRAT, MERTK, CEP290, RDH12, RPGRIP1, RPE65, LCA5 and TULP1.
02.2008
Corneal
dystrophy
assay updated
Corneal
dystrophy chip
has been updated by adding 68 new mutations to the test. The
current test version covers 297 different mutations from 12
genes:
COL8A2, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2,
CYP4V2, SOD1, TCF8/ZEB1, SLC4A11.
02.2008
Asper Ophthalmics will be represented at the ARVO 2008 - Eyes on Innovation
- in Fort Lauderdale, Florida, USA, on April 27-April 30.
As
last three years, Asper will be represented at the meeting of the
Association for Research in Vision and Ophthalmology (ARVO) 2008. The
meeting will be held in Broward County Convention Center, Fort
Lauderdale, Florida, USA on April 27-April 30.
Asper welcomes all existing partners and everyone interested in
collaboration with Asper to attend the conference and meet in its booth
#715.
11.2007
New test at Asper Ophthalmics for screening mutations in Congenital
Stationary Night Blindness
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
Dr.
Christina Zeitz and Prof. Dr. Wolfgang Berger, Division of Medical Molecular Genetics
and Gene Diagnostics, Institute of Medical Genetics of the Univeristy of
Zurich.
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.
08.2007
Leber
congenital amaurosis (LCA) microarray
chip updated.
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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).
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Stargardt disease, age
related macular
degeneration, cone-rod
dystrophy testing
Usher syndrome testing
Leber congenital
amaurosis (LCA) testing
Autosomal recessive
retinitis pigmentosa
(AR-RP) testing
Autosomal dominant
retinitis pigmentosa
(AD-RP) testing
Bardet Biedl syndrome
(BBS) testing
Autosomal dominant
optic atrophy testing
Corneal dystrophy
testing
Congenital stationary
night blindness testing
Vitelliform
macular
dystrophy
testing
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