Dr.
Jörg T. Epplen
Professor for Human Genetics,
Ruhr-University Bochum, Germany
By: Bethany Manderson
B: BioBank is an interesting term. What is
the concept and goal of such a Bank?
Dr. Epplen: Initially a BioBank is established for the future of the breed, the
goals comprise that the biological materials, mostly the DNA samples, are
promptly available for answering scientific questions by investigating the
genomes like inherited diseases, genetic structure and relationship in the population
and the like. There are already a few storage possibilities for DNA, mostly
commercially organised. The Weimaraner BioBank has been proposed to be
established by breeders interested in DNA analyses in a wider context like e.g.
parentage, effects of inbreeding, genetic diseases and genetic bases of the
phenotype, etc.
B: So it is breed
specific, just Weimaraners. How long has it been in existence and has there
been any interest or submissions from your country?
Dr. Epplen: We really
got started in May 2007. Up to now, about 400 DNA samples are deposited in the
BioBank.
B: Does the Weimaraner
Klub endorse this endeavour?
Dr. Epplen: Not
directly. But the Klub now requires that DNA samples be deposited from those
dogs that are used for breeding. Without acknowledged DNA deposits, the Breed
Warden does not grant permission to breed.
B: Do you accept
breeder samples from other countries and continents, should they wish their
stock to also be included/recorded?
Dr. Epplen: Yes we do, albeit such requests have been quite rare so far. Mostly
foreign submissions were sent from neighbouring countries, all from central
Europe. In case there would be increasing interest and many samples from North
America were to be expected, we would have to organise special intermediate
storage locally and shipment provisions etc.
B: What do you require in the form of samples and paperwork?
Dr. Epplen:
We need EDTA-anticoagulated blood in order to prepare high quality DNA
that remains stable for decades. The form for submission may be down-loaded
from our homepage. In addition, we ask for a copy of the pedigree papers.
B:
What does the submitter receive to
acknowledge their inclusion/ registration, if any?
Dr. Epplen: The submitters are provided with an official form signed by myself
confirming that the blood was received (and the DNA is being prepared
immediately). In case the blood happened to be coagulated or the DNA quality is
sub optimal for long-term storage e.g. because of mailing problems or
the like, the dog owners are informed by us on the spot. They may submit
another blood sample when visiting the vet next time without additional charge.
B: What were you able to
determine with the Bank of samples have to date?
Dr. Epplen: So far the samples in the BioBank have not been touched at all. The
major investigations on the Weims’ genetics and genomes were initiated
beforehand using other samples sent in voluntarily for investigating particular
scientific questions.
(nb: see links at the bottom
of this)
B: What are your current
and next projects?
Dr. Epplen: Initially we
were interested in whether there were major population genetic differences
between long-hair and short-hair Weimaraners in Germany, in addition to the
recessive trait for long-hair. We investigated markers in the ‘desert of the
canine genome’, that means not the genetic variability in genes, but rather
especially variable DNA sequences used e.g. for DNA fingerprinting to
demonstrate the correct descendants. Interestingly, both hair varieties are to
be assigned to one and the same population, the ‘greys’. Even more unexpected
was the indication that the genetic variability among long-hair was more
extensive than in short-hair Weims. Nobody would have guessed that because
there are at least 2/3s more short-hair than long-hair Weims in Germany at
present. We suspect that special care to reduce inbreeding in long-hairs had
these significant effects even after a few generations, recently. Soon, we
shall submit a report for publication in a specialised scientific journal on
the very few founding bitches and sires that are still demonstrably represented
in the present-day genomes of German Weimaraners. And next, we will be writing
a scientific essay on the remaining genetic variability in Weims in comparison
to eleven other breeds like German Shepherd, Boxer, Schnauzer as well as
ancient Asian breeds and the grey wolf.
B: New information on the
founding dogs for this breed and remaining genetic variability will certainly
be ground breaking and interesting! So, are you able to continue to make
advancements and discoveries with the samples you have, or do you require more
samples?
Dr. Epplen: The more
comprehensive the BioBank, the better are the answers on future questions.
B: Does that mean you can,
or cannot accept Weimaraners without pedigrees?
Dr. Epplen: In certain
instances (special traits, diseases etc.), such samples would also be relevant.
Those issues would need to be discussed case by case.
B: The field of Genetics
is moving so quickly! Does that impact what you would like to do next or
are able to do next?
Dr. Epplen: For example, methodological innovations like DNA arrays affect
what is to be done, and novel methods pave the way for novel research
strategies on one or the other question.
B: With the Weimaraner
Klub now requiring DNA submissions to the
BioBank prior to any breeding, there is a constant infusion of DNA
being added. What if you wanted to isolate a certain project to determine say,
a marker, allele or gene for a predisposition, how would that be accomplished?
Dr. Epplen: We will need
to have the index dog(s) plus as many as possible family members at our perusal
for monogenic diseases for example. The more closely related dogs are
available, the more efficiently is this search to be conducted. For population
genetic approaches we sometimes need dogs that are genetically as far apart as
possible, e.g. when we wanted to characterise the remaining genetic variability
in the breed, as mentioned earlier.
B: In my experiences with the various DNA projects, one of the most often asked questions is, “but who if funding it?” Would you like to touch on that subject in relation to this BioBank and subsequent projects?
Dr. Epplen:
DNA preparation and storage is to be
paid for by the owner (€40.-). The ensuing projects are to be financed
separately either by the Clubs in case of their interest, or by research
organisations to which respective application are to be directed. Questions on
individual dogs like parentage etc. are subject to the individual owners.
B: I see. By addressing
canine DNA projects, as a Human Geneticist, this makes you better at what you
do, and we as breeders obtain answers to our breed that were not available to
anyone before. Everyone gains. So, Dr. Epplen, why Weimaraners?
Dr. Epplen: Because this
is an old and classical hunting dog (with Leithund; ‘a dog that tracks
on a lead’ characteristics), has mostly controlled breeding (with previously
unrecognised exceptions) in a limited population in Europe. In addition, I have
this deep relationship and hunting partnership with a certain grey, six
year-old bitch…
B Is the
Weimaraner BioBank part of your regular duties?
Dr. Epplen: No, this
biobanking remains a ‘labour of
love’ albeit taken quite seriously, as sometimes happens. And I am pleased that
the German Klub has adopted its use. Yet we do biobanking as
professionally as our bread-and-butter job.
B: As breeders and owners,
not everyone is comfortable with giving away DNA on this continent. In my
previous work to find companies/ institutions to work with, I avoid those that
require the ’signing
away’ of the
DNA rights on the samples submitted. Are you or your institution bound by any
regulations?
Dr. Epplen: No, there are no regulations from outside other than our normal federal
regulations. The Weimaraner Klub did not ask for the rights, but we are
prepared to leave all rights to the DNA samples with the owners and their
foreign clubs.
B: In the
last few years, we have achieved many advances in new information on
Weimaraners. We now have answers emerging soon with regard to origin,
confirmation that the two coat varieties are the same breed and DNA tests
available to make sound decisions when breeding with regard to coat length, colour
and markings. Do you foresee genetic markers for diseases being a part of
this BioBank?
Dr. Epplen: Yes, this has been the original goal. We are in constant contact with
the Weimaraner Klub deliberating on novel problems to be approached by
genetic means.
B: I suppose breeders may
fear that one of their breedings or matings may be blamed for, or perpetuating
diseases.
Dr. Epplen: It is not the intention of biobanking to ‘play the watch dog’ in such
affairs. But in case the owners and the clubs approach the BioBank themselves
and agree to investigate, the relatives can be retrieved and characterised for
a genetic term or their relationships as well. Yet only with the informed
consent of the owners the BioBankers would become active…
B:
This is quite remarkable and there
are not many BioBanks as advanced as your institution’s and the Weimaraner Klub have
accomplished. For me, it’s been quite a struggle to work through the current myriad of projects
taking place and so many varied entities involved and they are emerging
exponentially. I see this as the one avenue for Weimaraners with a clear and
defined purpose, and always having the previous layers of material and
information to build upon.
Dr. Epplen: We hope too that this example will be observed by other breeds and
modified according to their special needs, respectively. The Große
Münsterländer Verband e.V. started their BioBank in the middle of 2008 with
us and it comprises >120 samples. Some rarer retriever breeds shall be the
last to perform biobanking with us, because our capacities will then be
exhausted completely.
B: Dr. Epplen, it’s been a pleasure talking with you and thank you for taking the time to bring attention to the Weimaraner BioBank at Ruhr University, Bochum, De.
Please
copy and paste Link into your browser to VISIT:
Letter from
Herr Dr. Epplen: (English):
http://www.ruhr-uni-bochum.de/mhg/MITARBEITER/ARBEITSGRUPPEN/PRA/DNA%20storage%20info.pdf
To make
submission and obtain forms to the Ruhr-University Bochum, Weimaraner Bio-Bank
(English):
http://www.ruhr-uni-bochum.de/mhg/humangenetik-bochum/leistungsspektrum/molgen/weimeranerbiobank_e.htm