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steveoifer

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Reply with quote  #1 

For those who wish to participate in finding a DNA test for this genetic disease.
 
You may send a check to "Trustee University of Pennsylvania -Dr. Giger" specifying the purpose of your donation to be for the research on cystinuria on Mastiffs done by Dr. Giger.You can send your donation to

Dr. Urs Giger (or if you prefer Mrs. Kate Judge, Development Office)
Ryan Veterinary Hospital
University of Pennsylvania
3900 Delancey Street
Philadelphia, PA 19104-6010



Urs Giger, PD Dr. med. vet. MS FVHDipl. ACVIM and ECVIM (Internal Medicine) and ECVCP
 (Clinical Pathology)Charlotte Newton Sheppard Professor of Medicine

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For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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Kimberly

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Reply with quote  #2 

Does Dr. Giger have an ammount that he thinks would be needed to develop the test. Is the estimate $10,000, $20,000 or inestimable? Thanks


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Kimberly Hutchison
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Scarecrow: I don't know... But some people without brains do an awful lot of talking... don't they?

"I expect to pass through this world but once. Any good thing, therefore, that I can do or any kindness I can show to any fellow human being let me do it now. Let me not defer nor neglect it, for I shall not pass this way again."
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steveoifer

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Reply with quote  #3 
the genome testing is $1000 per Mastiff. The minimal study should comprise at least 30 Mastiffs and may need to go as high as 100.

There's a 25% premium for overhead expenses as well.

That means $32,500-$125,000 needed for this project.

It's my belief that the genome project will reap rewards!

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For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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Kimberly

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Reply with quote  #4 
So if that ammount were to be raised we would have a sure fire DNA test to eliminate Cystinuria? Would it also give us mode of inheritence or just tell is who is a carrier etc. In other words would it tell us who can pass it on as well.

Basically we can put a dollar value on solving this disease?

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Kimberly Hutchison
Maid, Cook & Slave to Adora & Justice

Dorothy: How can you talk if you haven't got a brain?
Scarecrow: I don't know... But some people without brains do an awful lot of talking... don't they?

"I expect to pass through this world but once. Any good thing, therefore, that I can do or any kindness I can show to any fellow human being let me do it now. Let me not defer nor neglect it, for I shall not pass this way again."
Stephen Grellet, 1773-1855
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steveoifer

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Reply with quote  #5 
If that money is raised, we would have a sure fired way of exploring the genetic structure, which could lead to a DNA test for carriers.

That research could also reveal other diseases and could be used by many researches looking for other genetic issues in our breed, and as a comparative with other breeds!

Research is limited by the funds that support the research. It's this way with all clinical trials and exploratory research.



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For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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SilverKnight

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Reply with quote  #6 
ok, so if we raise this money they will use the dna collected from current positives that they have on file already?
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Teresa

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Reply with quote  #7 

One more question (well, probably more). IF we put our combined resources behind Dr Giger, will we get any kind of accounting records to show what the funds actually went to? Steve, as you well know, this is a cause I'm very willing to get behind, but I will be more than forthright that I'm not particularly impressed by UPENNs ability to keep those of us sending money apprised of their results or progress. In other words, who's accountable for the funds and HOW are they held accountable? I PURPOSELY don't send my money to any organization blindly because "accounting" costs can be up to 99% of some "charitable" organizations...I want my dollars to show results and be used for what I want them to be used for...not some PhDs new Beamer...Where are the funds from "Danny's Funds" (set up by Bill Newman's friends through AKC going to...thought it was supposed to  go to this kind of research, but I could be mistaken)? Has UPENN made ANY significant advances to warrant us sending our hard earned dollars to? What do all those fees for urine submission go towards? Okay, call me a skeptic....because I am!!


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Teresa

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Reply with quote  #8 

BUMP for more input!!


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lamars

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Reply with quote  #9 
I agree with Teresa . Yes we want an answer NO we dont want to throw good money after bad. With the PRA Research every penny had to be accounted for I see no reason why it should not be the same for this research . Do they have any info on how they are managing the contributions?

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EileenDurante

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Reply with quote  #10 
This money could easily be raised.
Fundraisers might include, monetary donations, raffles, auctions of donated items, passing the hat at shows, litter tax, stud dog tax, Hey even a  charge to list litters and studs on the boards.

Maybe host an official sponsors page for major donators.

What seems to be the concern here is how do we all know how and where our money is being spent. If we are donating to the Canine health foundation how do we know the money is being  used for mastiffs and not a general fund ?

If we had a trusted shrewd business man to manage the  funds, hold UPenn accountable and keep us all informed where it all goes, perhaps it would encourage the fancy to dig deep in support of the cause.

I vote for Steve !!




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A dog, treated with a little kindness, will be your friend for life. How do we reward them? By condemning many to a life of pain or an early death due to various inherited diseases Do we not owe them more than this?
Please support mastiff health testing. Thank you.

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Crossroads

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Reply with quote  #11 

Quote:

If that money is raise, we would have a sure fired way of exploring the genetic structure, which could lead to a DNA test for carriers



I realize there are few guarantees in life, but I think we should all pay close attention to this wording.  We could, as a community, raise the full 125K, but the only guarantee it would give us is the "exploration of the genetic structure". 

To date we have a lot of vague answers from UPenn.
-a negative result doesn't mean your dog does not have cystinuria,
-I asked if it was possible that it's polygenic, this would increase the difficulty in finding a specific locus. He said that it was possible, but he thinks it would only be 2 genes, but not in stone (no pun intended).
-Positive affected males don't usually throw affected males.
-Speculation that a gene transporter could be affected in older dogs, which may be the reason for the increase in positives as the dog ages.
-Nutra Grass and Super 14 can skew results, hypothetical, but likely valid.
-A negative test does not mean your dog does not have cystinuria. There is no set number of tests that will "clear" your dog, and no age at which the test can be considered definitive if negative. Since the test is inexpensive and non-invasive, most breeders do at least three for each dog before considering them clear, while still realizing even these three tests might be unreliable.
-Basically, they are still up in the air in Mastiffs and a lot more research is needed to pinpoint the issue.

All of the above "quotes" were taken directly from the UPenn site or from Steve's notes based on his conversation with Dr. Giger.  I mean come on!!!!  After all these years this is what we get?  UPenn has been "working on this" for years.  What does that mean exactly?  Do they work on it once a week, once a month, a couple times a year?  How much money have they already received from the Mastiff community?  Even on the MCOA web site there is an article dated 2003 and it is marked as NEW.  It also shows the most recent statistics  March 2007. (see below)
 

Quote:
Mastiffs tested for Cystinuria at UPenn via Urine Nitroprusside testing

New website that summarizes canine cystinuria information: http://www.caninecystinuria.com/

NEW: Update on Cystinuria 8/28/03 Drs. Paula Henthorn and Urs Giger

Cystinuria FAQ Frequently Asked Questions

Statistics



Current cumulative statistics from 1999 through March 2007:

  • Total male dogs tested: 585
  • Total female dogs tested: 542
  • Positive male dogs: 58 (10%)
  • Positive female dogs: 1 (.18%)

 



I think the Mastiff community should politely request a deeper level of commitment from the researchers at UPenn.  Knowing where the money is going is one thing, but knowing how many people they have working on it and how often they work on it is equally important in my opinion.  Having recent statistics and/or regular updates on progress should not be too much to ask.  For example: how many samples have been sent in between March 2007 and now?  A lot of awareness has been raised by the rise in popularity with Internet message boards.  It would seem that those numbers would have increased substantially.  The above information amounts to a fat lot of nothing if you ask me. 








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EileenDurante

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Reply with quote  #12 
Quote:
A lot of awareness has been raised by the rise in popularity with Internet message boards.


Ah but it hasn't made a huge difference in breeders testing their dogs, the dogs they have sold and using relatives of affected dogs anyway.

And we need to get this out of the honor system.
AKC DNA certificates, blood and urine should be sent in with every specimen for  testing.

We need a data base of affected mastiffs and their pedigrees.

Take a look at all the litter announcements on the boards, & breeders web sites. Take a look at the dogs listed for stud. many of them do not have cystinuria testing !!


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Eileen Durante
http://www.celestialmastiffs.com
VISIT OUR BAKERY
http://www.dogcookiebaker.com

A dog, treated with a little kindness, will be your friend for life. How do we reward them? By condemning many to a life of pain or an early death due to various inherited diseases Do we not owe them more than this?
Please support mastiff health testing. Thank you.

http://www.cafepress.com/mastiffstuff
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steveoifer

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Reply with quote  #13 
We can certainly ask for an accounting, but bear in mind that it's the university that gets held to task including Dr. Giger.

As trustee "Trustee University of Pennsylvania -Dr. Giger" these funds can be used as deemed fit for the research into cystinuria, not BMW's!

The research to date has reaped rewards for Newfs & other breeds. So it hasn't been a waste.

The problem in Mastiffs creates a more difficult resolve and therefore a genome study is recommended.

I believe that actual dogs must be brought in for the SNP and past urine samples will not guarantee good results.

In another e-mail to Dr. Giger, I stated that I like getting behind winnable research projects and I felt assured that this is certainly an actuality that could emerge from the proposed genome project.

I also asked if other "by-products" could come out of the genome exploration. It's likely that such a mapping could benefit other breeds and our own, regarding other genetic issues.

The past research has been using conservative research approaches and that's why it's taken longer to find a cause in Mastiffs.

Cornell has been involved in the genome mapping and the Upenn researcher that found the mutation in Newfs did sit on the board at Cornell, so information is interactive between these folks!

We can be suspicious if we wish, but it's my view that this research is genuine and those involved dedicated in that pursuit.



__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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steveoifer

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Reply with quote  #14 

Quote:

I realize there are few guarantees in life, but I think we should all pay close attention to this wording.  We could, as a community, raise the full 125K, but the only guarantee it would give us is the "exploration of the genetic structure". 



That "only" holds the key in finding a DNA solution for cystinuria!

Every research exploration has the identical "only" caveat!

This disease is not that difficult to explore and there's no reason why good things would not emerge from such a project.

Or, we could do nothing and continue to just complain!

Keep in mind, that cystinuria will affect the majority of the total Mastiff population in a relatively short period of time!

The choice is ours!


__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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Crossroads

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Reply with quote  #15 

I would still like to know how much money has been raised by the Mastiff community for cystinuria research so far?  I would also like to know the number of samples they have received to date.  I think it's ridiculous that the most current information on our breed club's web site is marked as NEW and dated 2003.  It seems to fly in the face of the "we have to get together as  community and fight this disease" don't you think??


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steveoifer

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Reply with quote  #16 

Dear Mr. Oifer,
please find my responses below; moreover, I can also readily discuss this further by phone with you and your constituents.
Your contribution would reach us at a time when the sophisticated technical tools for research in dogs have become available, and crucial samples from Mastiffs are gathered for further analysis; hence this kind of research can really thrive now. Thanks for having trust in me and supporting this important research to improve health of Mastiffs.
I am enclosing a brief summary and NIH type Curriculum for you and others in your office. Noteworhty may be that I was coediting the the book The Dog and Its Genome and coauthored the paper on cystinuria in there, but also was a coauthor on the feline genome paper. Hope my responses help.
Sincerely
Urs Giger

Urs Giger, PD Dr. med. vet. MS FVHDipl. ACVIM and ECVIM (Internal Medicine) 
and ECVCP (Clinical Pathology)Charlotte Newton Sheppard Professor of 
MedicineSchool of Veterinary Medicine at the University of Pennsylvania3900 
Delancey Street, Philadelphia, PA 19104-6010phone   215 898 8830; 
fax  215 573 2162giger@vet.upenn.edu; http://www.vet.upenn.edu/penngen



steve oifer wrote:

Hello again!
 
There are several questions that I must ask in regards to accounting and funding.
 
(i) Will funds be dedicated for general cyst. research, or can it be specific for the genome project? I felt you were most interested in the advancement toward a genetic test which will be the genome project. To that end SNP chip analysis will be performed, analyzed, and compared with phenotype (stone formers, degree of cystinuria and urinary COLA excretion) among related Mastiff populations with and without cystinuria to identify a marker and the responsible gene and mutation.
 
(ii) Is there a way to obtain matching funds through another venue? Or will that create a non-specific targeted area of research? This is not possible through the university. Matching funds would need to be organized by you which may be tough in current sconomic times for research in dogs. As far as I remember our school has only gotten one matching fund grant where we as a school had to raise 1 million from new donors to match 10 million toward a building.
 
(iii) How will the funds be monitored as research progresses? What procedures can be used to reasure "investors" that research dollars are going into research? Rest assured that the funds will be restricted to the research proposed. Generally this is the responsiblity of the Principal Investigator which would be me. All expenses will need to be approved by me.  I could also offer you or you can request a yearly budget accounting. Note a 20% proportion is subtracted from any privat grant (NIH it is 60%) for overhead which relates to use of labs, water, chemical waste, administration, insurance, etc. We are keen to pursue these studies
 
(iv) Does the university control outlay of funds, or as trustee do you have the final and sole determining decision? The University is the Trustee and I am going to be the designated investigator. If the funds would go solely to the school or Trustee of the Univeristy without designated investigator the use would be less defined/restricted. Hence your restricted donation is in a way like a grant for a specific research and I can report to you on what has been specifically done and found. We also plan to publish the results peer-reviewed in a journal to make them available to everyone
 
Please forgive the implications of these questions, as they are not mine and are being asked from one branch of the money stream.
No doubt by now,  you are familiar with the politics in such matters. It is fair to ask how a donation is used and I really appreciate the interest by everyone to make this donation possible.
 
As always.........
 
Sincerely,
 
Steve Oifer

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For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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steveoifer

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Reply with quote  #17 

 

Urs Giger, Prof. Dr. med. vet., MS, FVH

Dipl. ACVIM & ECVIM (internal Medicine)

Dipl. ECVCP (Clinical Pathology)

Charlotte Newton Sheppard Professor of Medicine

 

School of Veterinary Medicine

University of Pennsylvania

3900 Delancey Street

Philadelphia, PA 19104-6010 USA

Phone  215-898-8830

Fax      215-573-2162

Email:  giger@ vet.upenn.edu

http://www.vet.upenn.edu/penngen

 

 

 

 


 

Urs Giger received his veterinary degree from the University of Zürich, Switzerland, where he also pursued his initial clinical training in small animal medicine and surgery and a doctoral thesis on the orthopedic correction of canine hip dysplasia.  In 1981, he moved initially as a postdoctoral fellow to the United States, where he subsequently also completed a residency in small animal internal medicine at the University of Florida.

He then joined the faculty of the School of Veterinary Medicine at the University of Pennsylvania in Philadelphia and has been over the years a clinician in the Medicine, Oncology, and Pediatrics/Genetics Service.  He is the Charlotte Newton Sheppard Professor of Medicine.  He has a secondary professorship in internal medicine at the University of Zürich as well as a joint professorship in hematology at the School of Medicine of the University of Pennsylvania.  He is a diplomate of the American and European College of the Veterinary Internal Medicine as well as a diplomate of the European College of Clinical Pathology.  He is a clinician in medicine, hematology, pediatrics, and genetics and is heading the Pediatrics and Genetics Clinic, the Metabolic Genetics Laboratory, the Josephine Deubler Genetic Disease Testing Laboratory, and the Transfusion Medicine Center at the University of Pennsylvania.  His clinical and research expertise and interests are in hereditary and hematologic disorders of small animals and are reflected in over 150 original research publications as well as many more reviews, book chapters, proceeding articles and scientific abstracts.  He also coedited the book The Dog and Its Genome from Cold Spring Harbor Laboratory Press.  Among others awards, he was the recipient of the 2002 International Scientific Lifetime Achievement Award from the World Small Animal Veterinary Association and the 2007 International Bourgelat Award from the British Small Animal Veterinary Association and is a frequently invited speaker at many national and international conferences.

 


__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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steveoifer

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Reply with quote  #18 

BIOGRAPHICAL SKETCH

 

 

NAME

Urs Giger

POSITION TITLE

Charlotte Newton Sheppard Professor of Medicine Chair

eRA COMMONS USER NAME                    gigerurs

EDUCATION/TRAINING

INSTITUTION AND LOCATION

DEGREE

YEAR

FIELD OF STUDY

University of Zurich, Sch of Veterinary Medicine

equiv. DVM

1977

Veterinary Medicine

University of Zurich, Sch of Veterinary Medicine

Dr. med. vet.

1979

Veterinary Medicine

University of Zurich, School of Medicine

equiv PhD

1981

Exp Med & Biology

University of Florida, School of Medicine

Post Doc

1982

Biochem & Pharmacol

University of Florida, Sch of Veterinary Medicine

Resident

1984

Internal Medicine


 

Positions and Honors:                 Section of Medical Genetics

School of Veterinary Medicine, University of Pennsylvania

 

1984-85         Instructor in Small Animal Medicine

1985-90         Assistant Professor of Medicine and Medical Genetics

1986               Diplomate, American & European (1994) College of Veterinary Internal Medicine

1989-              Secondary Appointment as Privatdozent/Professor at University of Zürich

1989-              Director of Metabolic Genetics Laboratory

1990-95         Associate Professor of Medicine and Medical Genetics

1990-              Secondary Appointment as Professor of Medicine, School of Medicine

1995-              Professor of Medicine and Medical Genetics and Chief of Medical Genetics

1995-              Diplomate, European College of Veterinary Internal Medicine –Companion Animals

1997-              Charlotte Newton Sheppard Professor Chair of Medicine

1998-              Director of the Josephine Deubler Genetic Disease Testing Laboratory

1998               Organizer, First International Feline Genetic Disease Conference, Philadelphia

2002/4/6/8     Coorganizer of the Canine & Feline Genome & Genetic Disease Conferences, in St. Louis, MO, Utrecht, NL, and Davis, CA, and Staint Malo, F.

2002               Scientific Lifetime Achievement Award from the World Small Animal Vet. Association

2004               John E. McCoy Award from Washington State University

2004-              Diplomate, European College of Veterinary Clinical Pathology

2006               The Dog and its Genome. Ostrander EA, Giger U, Lindblad-Toh K. (eds) Cold Spring Harbor Laboratory Press, NY

2007               International Bourgelat Award from British Small Animal Veterinary Association for outstanding contributions to the field of small animal medicine

 

Selected recent original publications since 2002 (from over 150 plus over 200 reviews)

 

Foureman P, Whiteley M, Giger U. Canine leukocyte adhesion deficiency: Presence of the Cys36Ser beta 2 integrin mutation in an affected Irish setter cross-bred dog and in Irish Red and White setters in the US. J Vet Intern Med, 16: 518-521, 2002.

Bhalerao DP, Rajpurohit Y, Vite C, Giger U. Mutation screening for myotonia congenita among 372 miniature schnauzers and identification of a common carrier ancestor. Am J Vet Res, 63: 1443-1447, 2002.

Ellinwood NM, Wang P, Skeen T, Sharp NJH, Cesta M, Decker S, Edwards NJ, Bublot I, Thompson JN, Bush W, Hardam E. Haskins ME, Giger U. A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-a-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26: 489-504, 2003.

Mazrier H, Van Hoeven M, Wang P, Knox VW, Aguirre GD, Holt E, Wiemelt SP, Sleeper MM, Hubler M, Haskins ME, Giger U. Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: The first animal model of human I-Cell disease. J. Heredity 94:353-373, 2003.

Griffin A, Callan MB, Shofer FS, Giger U. Evaluation of a canine D-dimer point-of-care test kit for use in samples obtained from dogs with disseminated intravascular coagulation, thromboembolic disease, and hemorrhage. Am J Vet Res, 64: 1562-9, 2003.

Mason N, Duval D, Shofer FS, Giger U. Cyclophosphamide exerts no beneficial effect over prednisone alone in the initial treatment of acute immune-mediated hemolytic anemia in dogs: a randomized controlled clinical trial. J Vet Intern Med, 17: 206-12, 2003.

Aronson LR, Preston A, Bhalerao DP, Drobatz KJ, Giger U. Evaluation of erythropoiesis and changes in serum erythropoietin concentration in cats after renal transplantation. Am J Vet Res, 64: 1248-54, 2003.

Weingart C, Giger U, Kohn B: Whole blood transfusions in 91 cats: a clinical evaluation. J Feline Med Surg. 6: 139-48, 2004.

Silverstein Dombrowski DC, Carmichael KP, Wang P, O'Malley TM, Haskins ME, Giger U. Mucopoly-saccharidosis type VII in a German Shepherd Dog. J Am Vet Med Assoc, 224: 553-7, 532-3, 2004.

Callan MB, Giger U, Catalfamo JL: Effect of desmopressin on von Willebrand factor multimers in Doberman pinschers with type I von Willebrand disease. J Am Vet. Res 66:861-7, 2005.

Battersby A, Giger U, Hall EJ: Hyperammonaemic encephalopathy secondary to selective cobalamin deficiency. J Sm Anim Pract 46: 339-44, 2005.

Haskins ME, Jezyk PF, Giger U: Diagnostic tests for mucopolysaccharidosis.  J Am Vet Med Assoc. 2005 226: 1047, 2005.

Giger U. Clinical Genetics. In Textbook of Veterinary Internal Medicine. Ettinger SJ, Feldman EC (eds). Pp 264-8, 2005.

Stieger K, Palos H, Giger U: Comparison of various blood typing methods for the feline AB blood group system. Am J Vet Res. 66:1393-99, 2005.

Giger U, Palos H, Stieger K: Comparison of various canine blood typing methods. Am J Vet Res. 66:1386-92, 2005.

He Q, Madsen M, Kilkenney A, Gregory B, Christensen EI, Vorum H, Hojrup, P, Schaffer AA, Kirkness EF, Tanner SM, de la Chapelle A, Giger U, Moestrup SK, Fyfe JC. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood 106:1447-53, 2005.

Michel KE, Bader A, Shofer FS, Barbera C, Oakley DA, Giger U. Impact of time-limited feeding and dietary carbohydrate content on weight loss in group-housed cats. J Fel Med Surg 6; 349-55, 2005.

Henthorn PS, Giger U: Cystinuria. In The Dog and Its Genome. Ostrander EA, Giger U, Lindblad-Toh K. (eds). Cold Spring Harbor Laboratory Press NY. 349-64, 2006.

Ostrander EA, Giger U, Lindblad-Toh K (eds). The Dog and Its Genome. Cold Spring Harbor Laboratory Press NY, 2006.

Giger U, Sargan DR, McNiel EA: Breed-specific hereditary diseases and genetic screening. In The Dog and Its Genome. Ostrander EA, Giger U, Lindblad-Toh K. (eds). Cold Spring Harbor Laboratory Press NY. 249-90, 2006.

Giger U: Immunodeficiencies and infectious diseases. In Greene CE (ed) Infectious Diseases of the Dog and Cat. Saunders and Elsevier, 1013-27, 2006.

Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost. 4:2616-22, 2006.

Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab. 89:254-60, 2006.

Arikan S, Gurkan M, Ozaytekin E, Dodurka T, Giger U. Frequencies of blood type A, B and AB in non-pedigree domestic cats in Turkey. J Small Anim Pract. 47: 10-3, 2006.

Trotman TK, Phillips H, Fordyce H, King LG, Morris DO, Giger U. Treatment of severe adverse cutaneous drug reactions with human intravenous immunoglobulin in two dogs. J Am Anim Hosp Assoc 42: 312-20, 2006.

Hackett TB, Jensen WA, Lehman TL, Hohenhaus AE, Crawford PC, Giger U, Lappin MR. Prevalence of DNA of Mycoplasma haemofelis, 'Candidatus Mycoplasma haemominutum,' Anaplasma phagocytophilum, and species of Bartonella, Neorickettsia, and Ehrlichia in cats used as blood donors in the United States. J Am Vet Med Assoc. 229: 700-5, 2006.

Sewell AC, Haskins ME, Giger U. Inherited metabolic disease in companion animals: Searching for nature's mistakes. Vet J. 174: 252-9, 2007.

Seiler G, Rossi F, Vignoli M, Cianciolo R, Scanlon T, Giger U. Computed tomographic features of skull osteomyelitis in four young dogs. Vet Radiol Ultrasound. 48:544-9, 2007.

Daly M, Giger U: A rodenticide exposed and bleeding Beagle dog with hereditary factor VII deficiency. J Vet Emerg Crit Care, 17: 170–174, 2007.

Blais MC, Berman L, Oakley DA, Giger U. Canine Dal blood type: A red cell antigen lacking in some Dalmatians. J Vet Intern Med, 21: 281-6, 2007.

Weinstein NM, Blais MC, Harris K, Oakley DA, Aronson L, Giger U. A newly recognized blood group in domestic shorthair cats: the Mik red cell antigen. J Vet Intern Med, 21: 287-92, 2007.

Fyfe JC, Kurzhals RC, Hawkins MG, Wang P, Yuhki N, Giger U, Van Winkle TJ, Haskins ME, Patterson DF Henthorn PS. A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Molec Gen Metab, 90: 383-392, 2007.

McCully K, Giger U. Using near infrared spectroscopy coupled to magnetic resonance spectroscopy to evaluate canine muscle oxygen saturation: evaluation and treatment of M-type phosphofructokinase deficiency.  International book of in vivo imaging in vertebrates. Tavitian, B., A. Leroy-Willig, V. Ntziachristos, (eds).  John Wiley & Sons, Ltd.  London. pp 265-269, 2007.

Pontius JU, Mullikin JC, Smith DR; Agencourt Sequencing Team, Lindblad-Toh K, Gnerre S, Clamp M, Chang J, Stephens R, Neelam B, Volfovsky N, Schäffer AA, Agarwala R, Narfström K, Murphy WJ, Giger U, Roca AL, Antunes A, Menotti-Raymond M, Yuhki N, Pecon-Slattery J, Johnson WE, Bourque G, Tesler G; NISC Comparative Sequencing Program, O'Brien SJ: Initial sequence and comparative analysis of the cat genome. Genome Res. 17:1675-89, 2007.

Sabina RL, Woodliff JE, Giger U. Disturbed erythrocyte calcium homeostasis and adenine nucleotide dysregulation in canine phosphofructokinase deficiency. Comp Clin Pathol, 17: 117–123, 2008.

Sanchez-Robert E, Altet L, Utzet-Sadurni M, Giger U, Sanchez A, Francino O: Slc11a1 (formerly Nramp1) and susceptibility to canine visceral leishmaniasis. Vet Res 39:36 [Epub], 2008.

Traas AM, Abbott BL, French A, Giger U: Congenital thyroid hypoplasia and seizures in two littermate kittens. J Vet Intern Med 22:1427-31, 2008.

Becker M, Moritz A, Giger U. Comparative clinical study of canine and feline total blood cell count results with seven in-clinic and two commercial laboratory hematology analyzers. Vet Clin Pathol. 37: 373-84, 2008.

van Geffen C, Savary-Bataille K, Chiers K, Giger U, Daminet S: Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. J Small Anim Pract. 49: 479-82, 2008.

Barrs VR, Giger U, Wilson B, Chan CTT, Lingard AE, Tran L, Seng A, Beatty JA: Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. Aust Vet J 87:39-44, 2009.

Gerber K, Harvey JW, D’Agorne, Wood JH, Giger U: Hemolysis, myopathy and cardiac disease associated with hereditary phosphofructokinase deficiency in two whippets. Vet Clin Pathol 38: 46-512009.

Margaritis P, Roy R, Aljamali MN, Downey DH, Giger U, Zhou S, Merricks E, Dillow A, Nichols TC, High KA: Successful treatment of canine hemophilia by continuous expression of canine FVIIa. Blood 113: 3682-9, 2009.

RJ Kessler, S Rankin, S Young, K O’Shea, M Calabrese, A Guldin, N Lipson, DA Oakley, U Giger. Pseudomonas fluorescens contamination of a feline packed red cell unit and studies of canine units. Vet Clin Pathol.


__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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HarmonyMastiffs

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Reply with quote  #19 
Wow!  Wouldn't it be awesome to know if the dogs we are breeding are clear of and will not pass on this disease...!

I wonder if Jann could make a poll like she's done in the past to find out how many folks would be comfortable at this current time, with the information provided thus far, in monetarily contributing to an organized fund of some sort, be it auction, % of stud fees, litter tax (so to speak) much of what Eileen wrote, from which the proceeds would go directly thru Steve to Giger or directly to Giger.

Jann?


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Monica Coyle
Harmony Mastiffs
http://www.harmonymastiffs.com
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steveoifer

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Reply with quote  #20 
Monica,

We have a window of opportunity, that could truly benefit Mastiffs and breeders!

I hope that this doesn't just become another dead grape on the vine!

We have the right guy, at the right moment in time, to finally take the bull by the horns and eradicate this genetic disease once and for all.

Let's not waste this occasion.

__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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HarmonyMastiffs

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Posts: 665
Reply with quote  #21 
I agree Steve.  I am curious tho how many others do and a poll would let us know how others are feeling without them having to expose themselves if they did not want to.  At least it would give you/others an idea of how many are on board with contributing. 

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Monica Coyle
Harmony Mastiffs
http://www.harmonymastiffs.com
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EileenDurante

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Reply with quote  #22 
I just asked Steve if he would be willing to act as the financial go between for Upenn. He kindly agreed to the task. IMO he has already developed a relationship with Dr Giger. It just makes sense to let him carry the ball and report back to us.

Now how are we going to do this ?
Where would donations be sent ?
Who would checks be made out to ?
Mailing address if Steve is going to track the finances ?

While Paypal is certainly convenient I have to say
I was shocked at how large their VIG was when I did the fundraiser for Tom & Karen Regan. They siphoned $380 off before I got to send her the rest of the $3200 we raised with raffle ticket sales.


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Eileen Durante
http://www.celestialmastiffs.com
VISIT OUR BAKERY
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A dog, treated with a little kindness, will be your friend for life. How do we reward them? By condemning many to a life of pain or an early death due to various inherited diseases Do we not owe them more than this?
Please support mastiff health testing. Thank you.

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steveoifer

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Reply with quote  #23 

I would set up a checking account and deposit all contributions into the Cystinuria account.

Once cleared, a single combined check would be issued to Upenn/Giger.

This would document all depositors and payments made to Upenn.

Steve Oifer
14 Marseille Terrace
Morganville, N.J. 07751

__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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steveoifer

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Reply with quote  #24 
Dear Mr. Oifer,
of course she has been part of this since nearly the beginning and is our molecular geneticist and we have worked and published together on cystinuria and other genetic projects since the 90s.


Urs Giger




steve oifer wrote:

Another issue has been raised regarding Paula Henthorn.
Some wish to know if she will be involved as well in the genome project.
 
Sincerely,
 
Steve O.

__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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steveoifer

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Reply with quote  #25 

just to follow up our offices are adjacent and share labs, equipment and personnel.
Urs


__________________
For the betterment of the breed

"Above all, a uniform type should be aimed at by breeders and uniformity of type can only exist in a proportionate ratio in the purity and distinctiveness in any breed"!.........M. Moore
"If breeds did not adhere to a specific shape, form, and colour range, or if breeders disregarded this blueprint, the breed would degenerate to the point that it would hardly resemble the breed at all. Selective breeding does not just create breeds- it preserves them as well." Breeding purebred dogs inherently means accepting limitations on your freedom to just breed anything...Catherine McMillan
" A reinforced consolidation of the American and British standards could be the basis for restoring our breed to the gladiatorial glory of its ancient past, in capability if not in usage".....Norman Howard Carp-Gordon
"I can live with doubt, or not knowing, rather than to have answers that might be wrong"...Richard Feynman
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