Glaucoma Research

We heard of the work of a Dr Lohi in Finland via Minna Repo and Margreth Wall, the Finnish Dandie club, small as they are have been holding events to raise funds and have done well considering their size. We looked into this work and found that Dr Lohi is also working in conjunction with the Uni of Missouri who we have funded in the past, trouble is with that research we had to piggy back on the backs of other bigger breeds because they could raise more money - for obvious reasons.

Dr Lohi seems to have a particular interest in dandies and so far we have sent $6000 with more to come, and obviously, we have to keep his interest alive and continue to fund his research to help our dandies, it cannot be a 'one off' thing or we lose it, anyway I send you part of a mail he sent us which will give you a better understanding -

January 2009

Dear Celia,
Saija has analyzed the genotyping data and it looks very promising. We
have a single locus on one chromosome and it is significant so we
believe it!  This means we have mapped the Dandie's glaucoma gene but
have to work now hard to identify the actual mutation.  This requires
lots of resequencing and it would help us a lot if you could support
us again financially and especially by collecting as many dandies as
possible for our DNA bank.  Resequencing is likely 10-15 000 euros.

Very exciting!



Dear Celia,
We have collected Dandies here Finland and in US (Dr. Gary Johnson) and
continue doing so. Any samples from UK or other countries would be
helpful. We have currently 20 affected and 90 unaffected samples and we
would like to perform the first round of genotyping to map the glaucoma
locus in this breed. We have several litters with multiple affecteds
increasing the power of our study. I would specifically ask funds for
this mapping project. We would use the newest high-resolution marker
technology with Illumina's SNP chip arrays. The cost for one chip is
272$US. For 40 samples it would make 10 880$ + shipping. Together with
Gary, we would run experiments here in Finland in the Finnish Genome
Center, where I have a special access. Since we already have the DNAs
for 40 samples, we could start immediately. It would be awesome if you
could support us to buy those chips. Finnish DandiClub has collected
~1000? so far for this project, so if you could supplement the rest, we
could start mapping the locus. If 10 000$ is not in the scope of your
funding opportunities, I would suggest that we gebotype 20 cases and 10
controls initially. This reduces the power only modestly but we could
perform this for 8160$. Actually if I knew your commitment for donation
before next Wednesday we could save even more. May 30th we have a
special offer from Illumina for the European Canine Consortium I belong,
it is 218$/sample: 40= 8720$ and 6540$.

I believe that we should proceed as described before to map and develop
marker for your condition in Dandies. Meanwhile we try to expand sample
collection around world. I believe we have a great chance to be
successful even in this first round of mapping but if not we will simply
genotype more dogs collected during this time.

Another project I would like to do for your breed relates to DLA-typing.
We can DLA type the same samples we use for glaucoma . DLA typing tells
about the genetic diversity within your breed and certain DLA classes
can be associated with different autoimmune diseases. I can perform
these at the same time as glaucoma mapping proceeds.

Hannes Lohi, Docent
Academy Research Fellow
Biomedicum Helsinki, Room B336b
Department of Medical Genetics,Program in Molecular Medicine
University of Helsinki and the Folkhälsan Institute of Genetics
P.O.Box 63 (Haartmaninkatu 8)
00014 University of Helsinki
phone +358-9-191 25085
fax +358-9-191 25073


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