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NEWS
of 2006
11.2006
Asper
Ophthalmics will launch new test for analysis of the
Autosomal Dominant Retinitis Pigmentosa (AD-RP) in the end of November.
The test
will enable analysis of 347
mutations in 13 genes:
CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX.
09.2006 New publications
co-authored by Asper's scientists has
been
published:
Development of a Genotyping Microarray
for Usher Syndrome
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.
J Med Genet. 2006 Sep 8
Simultaneous multigene
mutation detection in patients with sensorineural hearing loss through a
novel diagnostic microarray: a new approach for newborn screening
follow-up.
Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A,
Schrijver I.
Pediatrics. 2006 Sep;118(3):985-94.
09.2006
New
supportive services are available in Asper
Verification
by DNA sequencing
To
confirm the results with secondary method, Asper provides
verification of the APEX findings by dideoxy sequencing.
Sequencing will be performed under strict quality control
regulations by professionally trained personnel on Applied
Biosystems 3130 Genetic Analyzer.
Hard
copies of the reports on official blank
Asper
can provide the formatted results on company’s official letter
blank upon request. The hard copy will be signed and sealed by head of the
lab and sent out by registered mail.
Storage
of DNA samples at Asper´s DNA bank
Asper
always performs the screening with as limited amount of DNA as
possible. If there will be enough remained DNA; it can be
storaged in Asper’s DNA bank. The DNA can be used for further
analysis by other tests or just for re-screening. The amount of
remained DNA will be measured and report will be sent to
partner. The data of DNA samples will be recorded in our
laboratory information system and stored under strict quality
controlled manner.
Returning
of DNA samples
The
remained DNA can be also sent back to partners either by regular
mail or by courier.
08.2006 Asper
Biotech announces the release of two new DNA
tests - Cystic Fibrosis mutation detection test and DNA
Repair test
Cystic
Fibrosis test enables to analyze 204 known mutations in CFTR gene. It
is
suitable for Cystic Fibrosis carrier screening and disease detection. Read
more ...
DNA repair chip includes
the 216 most studied SNPs within xenobiotic-metabolizing
genes and it allows reconstructing the haplotypes for NAT1, NAT2, CYP2D6,
CYP1B1, CYP1A1, CYP1A2 genes.
The chip includes also most of the common
variants for the DNA repair genes optimized for Caucasian populations. It
includes homologous recombination of repair genes, as well as, base-excision
repair, nucleotide excision repair, mismatch repair, and MGMT.
Moreover, it bears SNPs from several genes related to the control of
cell cycle and apoptosis (including ATM, BRCA1 BRCA2, p16, CDKN1a, CDKN2A).
The total number of genes is 97 to be studied by DNA repair chip.
05.2006
Launching of
Asper
Ophthalmics was recognized by Tartu City Government as one of the most
remarkable achievement in year 2005.
On the 2nd of May 2006,
Tartu City Government recognized establishment and launching of Asper
Biotech's new branch Asper Ophthalmics as one of the most remarkable
entrepreneurial achievement in the city last year. Asper Ophthalmics is
focusing on DNA testing of eye disease disorders and is providing 5
different genetic tests to all over the Europe, North- and South-America,
Africa, and Asian retinal communities.
In 2005 we were able to
reach more new users than during the earlier years. Our focused approach
towards retinal eye diseases has been recognized also both by our
long-term partners as well as new users. Currently Asper Ophthalmics is
working on numerous new test developments to be launched in 2006 and 2007.
04.2006
New test at Asper Ophthalmics for screening mutations in Bardet Biedl
Syndrome
Bardet
Biedl Syndrome (BBS) test has been established for screening 237 mutations
from 12 genes: BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS10,
PHF6, ALMS1, GNAS1.
Development and validation experiments have been performed in
collaboration with our partners from Institute of Child Health (UK), John
Hopkins University School of Medicine (USA), University of Vigo (Spain)
and University Louis Pasteur
(France).
For
further information please look http://www.asperophthalmics.com/BBSgenetest.htm
or contact info@asperophthalmics.com.
04.2006
Asper Ophthalmics announces the availability of its new Autosomal
Recessive Retinitis Pigmentosa DNA test
Asper
Ophthalmics has been working on the development and validation
of the Autosomal Recessive Retinitis Pigmentosa test (AR-RP test)
since early 2005. The test includes 502 mutations from 16
genes: CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12,
RGR, RLBP1, SAG, TULP1, CRB, RPE65, USH2A, USH3A. With this
content, it is one of the most comprehensive tests available
for screening known mutations associated with the disease.
The new test is ready for use
in high-throughput screening of DNA samples as well as the
analysis of individual samples. We continue working on the
test, and will update the mutation list at least twice
per year.
The development and validation of the test has been performed
in tight collaboration with a strong scientific consortium led by Prof. Rando Allikmets from Columbia University (NY, USA).
Retina International and its national sub-organizations have
contributed to the development of the AR-RP test.
The next test for screening known mutations in autosomal
dominant RP is currently under development and will be
launched during the second half of next year. For further
information please look
http://www.asperophthalmics.com/ARRPgenetest.htm
or contact
info@asperophthalmics.com.
01.2006
Asper
Biotech's branch Asper Ophthalmics invites all interested to
its booth #101 at the ARVO 2005 in Fort Lauderdale,
Florida, USA, on April 30-May 4.
As
last year, Asper will be represented at the meeting of the
Association for Research in Vision and Ophthalmology (ARVO)
2006. The meeting will be held in Fort
Lauderdale, Florida, USA on April
30-May 4.
Asper welcomes all existing partners and everyone
interested in collaboration with Asper to attend the
conference and meet in its booth #101.
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