AMERICAN SPANIEL CLUB FOUNDATION July 2020 Update Report From Dr. Aguirre / University of Pennsylvania
I am pleased to share with you the mid-year report from Dr. Aguirre on cataract research. Below you will find a synopsis of the report. The full 20-page report can be found on the Foundation page on the ASC website and the ASC Foundation website.
We will be recording a presentation from Dr. Aguirre explaining the research progress and hope to have it available to you no later than August 21. The presentation will include updates since this written report and Dr. Aguirre will answer submitted questions as well. To submit any questions you may have, use the email AskTheFoundation@gmail.com and submit questions by August 9.
On behalf of the Foundation Board, thank you for your ongoing support of this important work. Charles Born – Foundation Communications
SYNOPSIS OF PAST & CURRENT WORK
In previously reported work, some candidate genes were selected, and pedigree analyses was done resulting in linking most of the affected dogs to three common ancestors.
An autosomal recessive inheritance model was hypothesized that would explain at least a significant part of the cases. But a deeper analysis of the data suggested that a set of common, shared genetic variants causing ALL genetic cataracts in the ACS population was unlikely. It was concluded that some of cataracts seen may appear similar, but the underlying genetic cause was different. The search to identify the underlying genetic causes continues.
Since the last report, the number of dogs participating in the study increased despite a slowdown in receiving samples during the COVID-19 lockdown and closure of the University. We thank the fancy for their support and ask that they continue as the more samples we receive the stronger the analysis results.
It was previously reported the ACS seems to exhibit distinct sub-phenotypes (sub-groups) of inherited cataracts. Age of onset was one sub-group and is the primary area of concentration. Two age groups emerged, ages 2-5 years and ages 5-9. The second sub-group is where one eye develops a cataract at an early age and several years later a second cataract appears in the other eye. The third sub-group addresses the location of the cataract at the onset. These two latter sub-groups may be analyzed later when a higher number of samples may be available.
To proceed with deeper analysis, 60 of the best samples were divided into 26 affected cases and 34 controls. The number of controls was later increased to 70. Genome-Wide Association Studies (GWAS) with the larger sample size was done on the two age groups which have confirmed the specific chromosomal regions as discussed in previous reports.
All of this led to Whole Genome Sequencing (WGS) for selected cases and controls. Four cases of affected dogs and 4 controls were to be sent to a facility in Switzerland for WGS. Unfortunately, the work was delayed due to the impact of the COVID-19. Results have now been received but the filtering analysis is still underway with the hope of having some of the data available for the August webinar.
Given how complex this disease is in ACS, we hypothesize the occurrence of cataracts in ACS is likely a complex of 2 or more diseases. The selection of the appropriate sub-populations of cases and controls has moved the analyses and project forward. With the candidate region understood and having implemented the Whole Genome Sequencing with the results still pending, the immediate and future objectives are as follows:
A. Increase the sample size of the database; a greater number of cases means we enrich the specific sub-populations, and a greater number of controls allowing us to avoid false positives. We believe we have reached a point that allows us to proceed with our plan, but we still need to keep updating our data and gathering new samples, at the very least for validation.
B. In this current phase of the project, we are confident we have the candidate regions detected through GWAS that will focus the research using the newly acquired Whole Genome Sequence results.
C. The preliminary cross-reference of the data did not point out any specific correlation between unilateral or bilateral, and age of onset. However, once a smaller pool of markers will be available, this relationship will be revisited.
D. Whole Genome Sequencing data analysis will be the focus of our next steps. Through the data generated, we will select suitable markers to be tested within the population. Validation will then happen in two steps – through further sequencing, investigating the segregation of candidate variants within the population, and/or conducting further experiments confirming a supposed effect of the variant on gene development.
You can download the full report at this link:
AMERICAN SPANIEL CLUB FOUNDATION January 2020 Update Report From Dr. Aguirre / University of Pennsylvania
The ASC Foundation Board is pleased to share with you the 2019 annual research report from Dr. Aguirre and University of Pennsylvania Eye Support Cataract Marker research. The key points of this report are:
- As has been stated previously, this research has been more complex than originally thought.
- Since our report in July, research has focused on 2 age groups – 2-5 years and 5-9 years and 3 ancestors in common. Within those groups research has identified a candidate region within the genome.
- It is believed there are at least 2 genes and possibly a 3rd gene modifier involved
- Moving forward, research will focus on 8 dogs ( 2 cases 2-5 years: 2 cases 5-9 years; and 4 controls)
- The research team will be applying new technology that is expensive but will provide 30% more data in the same amount of time.
- Although the report does not address the likelihood of research completion this year other than to state “…..a lot of work ahead”, if significant progress is made early this year then it might be possible to have a test by year-end. But, this is unlikely.
- Understand that even once the genetics are identified it will be 6 months or more before a test is developed and validated.
- It is the assumption of the Board that fundraising will need to continue at least another year beyond 2020.
Bottom line is we are narrowing the field of research which is real progress. Yet, there remains a lot of work to complete. Dr. Aguirre extends his thank you to everyone for the support given by the breeders and owners for sending in DNA samples, updated eye exams and other information as required. This is essential for research to be successful and Dr. Aguirre and his research team feel the cocker fancy has really stepped up. Although progress is good, we must not relax on DNA and Eye Exams. The Foundation will be sponsoring another clinic in St. Louis in July at the National and our fund raising chairs will be continuing efforts in that regard as well.
- Go to Health and Research menu on this website and select the report.
NEW as of January 2019 Cataract Exam Form for Study in PDF Format - Use only this form - Go to Health and Research menu on this website and select the form.
The news is good and the reason is YOUR commitment to get new dogs tested and to continue to retest and send in your affected and unaffected dogs. On behalf of the Foundation - we thank you. But you should thank yourselves and be proud of this progress. So many of you have dedicated yourselves to this effort and we will need that passion and commitment to continue.
The ASC Foundation is proud announce to cocker breeders and fanciers that we are supporting a new Cornell University College of Veterinary Medicine study on the incidence of Glaucoma in Cocker Spaniels. In order to understand the genetics behind primary glaucoma Cornell will compare the genome of normal unaffected Cocker spaniels with primary glaucoma affected Cocker spaniels. The purpose of this study is to determine the genes/loci mutations that predispose Cocker spaniels to primary glaucoma (specifically, primary angle closure glaucoma-PACG). Once the genetic markers have been identified, they hope to develop a genetic test to identify genetic carriers. This study is available through the Cornell University College of Veterinary Medicine Ophthalmology service and is sponsored by a grant from the Foundation for Ophthalmology Research and Education-International. They are not requesting financial support but are requesting the DNA participation of the Cocker Spaniel fancy whether pet or show/breeding stock.
ELIGIBILITY: All animals need to be pure breed Cocker spaniels that are at least 8 years old (as this disease tends to occur in middle age dogs). All animals will need an ophthalmic examination by a veterinary ophthalmologist. Dogs included in the normal group need to have normal intraocular pressures. Dogs included in the glaucoma group need to have primary glaucoma confirmed by gonioscopy or histopathology to confirm the presence of an angle closure. All animals will have a blood sample collected for the DNA analysis.
OWNER RESPONSABILITIES: The owners are responsible to bring the animal to Cornell University College of Veterinary Medicine or to their veterinary ophthalmologist so that their animals can be enrolled in the study. Owners are responsible for the associated costs of any tests or procedures unrelated to this study including FedEx shipping of blood samples.
TO PARTICIPATE and IF YOU HAVE QUESTIONS: To obtain more details about participating and the forms required to enroll please contact Dr. Espinheira at 607 253 3060 or via email at email@example.com. Full name of study is Detection of genetic loci for human primary angle closure glaucoma (PACG) in normal and PACG cocker spaniels
Jamie Hubbard and Karin Linde Klerholm generously donated the fees they received for judging the Capitol City Cocker Spaniel Club specialties to "Eye Support Cockers", the ASC Foundation's fundraising initiative to support Dr. Gustavo Aguirre's molecular genetic cataract study being conducted at the University of Pennsylvania. Many thanks to Jamie and Karin for their wonderful support of this critical project, and to Cathy Carey for taking this great photo. As you know, Dr. Aguirre and his team are also in need of more Cockers for inclusion in the study. To help meet this need, ASCF is offering a FREE BLOOD DRAW at the National in St. Louis. Please see the below information and consider taking advantage of this opportunity!
Let’s Make a clear future for Cockers at the ASC National this July!!! Calling all Cockers with pedigrees! WHAT: FREE blood draw for the ASC Foundation-funded genetic cataract study being conducted by Dr. Gustavo Aguirre at the University of Pennsylvania ***THIS DRAW, INCLUDING SHIPPING, WILL BE FREE ***SHOW COATS WILL NOT BE AFFECTED WHERE: ASC Summer National – Purina Farms, tack room area WHEN: Thursday, July 21, 2 – 5 P.M. Friday, July 22, 1 – 6 P.M. WHAT YOU NEED TO BRING:
*Any Cocker with a pedigree – affected and unaffected - show, performance, pet – dogs DO NOT have to be entered in the show *A pedigree for each Cocker to be drawn *ALL paperwork from recent and previous eye exams for those dogs – INCLUDING the completed research form found on the Optigen site: http://www.optigen.com/doc/9_30_15_Cocker_Cataract.pdf *If your dog(s) have not been examined recently, you can have that done AFTER the show and then mail the completed paperwork (including the University of Pennsylvania research form) directly to Optigen. For information, please contact: Elena Duggan, firstname.lastname@example.org 914 805 3394
Eye Support Cockers", via personal check, please send to:
BE SURE TO PUT IN THE MEMO LINE: Dr. Aguirre cataract project
$6000 and over (in order of highest amount donated)
- Stephanie Kaul
- Calvin and Dale Ward
- American Spaniel Club Foundation
$3000 to $5999 (in alphabetical order)
- Nan Faith Arnold and Linda L. Wiland
- Regina and Richard Beinhauer
- Jan Bruce- Winelight
- James Davis - EPIC
- Carolee Douglas
- Elena and Stephen Duggan
- Laurie Ferland - Somerset Cockers
- Linda G. Moore and Laurie Foley
- Kyle and David Richey and Tracy Lynn Carroll
- Jim and Kathy Van Elswyk - Foxhill
- Jane and Beth Williams – JanBet Cockers
$1000 to $2999 (in alphabetical order)
- Booster LLC
- Charles Born and Kevin Dincher
- Kenyon Fairey
- Brenda J. McManigle -- Abbey Lane Cocker
- Kathleen Patterson – Show Me Spaniels
- Dee Torgerson-Rismyhr - Micadee
Up to $999 (in alphabetical order)
- ACN Review (Kelly Ladoucer)
- Laurie Acklin
- Animal Hospital of Monticello - Monticello, IL
- Lindy Bennet -- Toybox Cockers
- Joyce Berthal
- Lindy Beeson
- Christine Brock
- Cara Burgess
- Ruth Corsaw
- Jackie Curry
- Betty Daily
- Patty Darke
- Angelina Dobmeier
- David and Linda Donaldson
- Carol Edwards
- Connie Edwards
- Patricia Elkins
- Sharon Elliott
- Bob Ennis
- Kenyon Fairey
- James and Debbie Fehring – Shaman Cockers
- Sherry Forslund
- Motoei Furukawa
- Csaba A. Havasi – Madmans Cometh
- Laura Heidrich
- Joyce E. Henderson
- Dianne Hill and Elphie
- Jamie Hubbard
- Michael Kaufman
- Colleen Keough
- Judith Wick Klepp – Jaywyck Cockers
- Karin Linda Klerholm
- Deborah Knight
- Donna and John Kornmeyer
- Kelly Ladouceur and Farley
- Linda Lareau
- Gabriella Ledeczi
- Doug and Marleta McFarlane
- J. Miller
- Friends and Family of Moonglow Gardens Cockers
- Mary and Carl Napper
- Lynn Nelson
- Marlene Ness
- Sam and Wilma Parker
- Performance Pets
- Kathy Patterson and the Show Me Spaniels
- Bonnie and Wilson Pike
- Linda and Mike Pitts
- Savannah Pitts
- Mark Ragusa
- Per Ingar Rismyhr
- Debra Rudman
- Quinn Ruvacava
- Judith Sarkisian
- Dan Sena
- Clyde and Barbara Shaw
- Jackie and Terry Stacy
- Mark Taylor
- S. Telenko
- Bruce J. VanDeman
- Julie Virosteck
- A. Vlasyuk
- Jack and Neville Ward
- Kathy E. Watson
- Sandie Weber
- Bruce VanDeman
- Adam Wierbianski
- Adam Wierzbianski
- Darin Yamaski
In Honor of In Memory Of
- In honor of Stephanie Kaul: Jackie Curry, Michaela Garloff
- In honor of Elena Duggan: Matthew Duggan and Kimberly O'Donnell
- In honor of Pistal: Debra Rudman
- In honor of Marlene Ness and Mark Ragusa: Brent Wetnicka
- In honor of Linda G. Moore – Lucille Foley
- In honor of Linda Lareau: Michaela Garloff
- In honor of Tracy Lynn and Ken Carroll and the Top Dog Inn: Stephanie Kaul
- In honor of Stella Rowlett: Stephanie Kaul
- In honor of all the dogs I’ve ever owned or bred: Stephanie Kaul
- In honor of Kerri Leeman and Tanya Bruce: Jackie Horton, wedding guests, Suncoast Cocker Spaniel Club
- In honor of Kevin Hughes excellent job with the Specialty show: Ohio Valley Cocker Spaniel Club
- In honor of Deborah Rudman’s Birthday: Facebook Donations
- In honor of Jackie Curry’s Birthday: Facebook Donations
- In memory of Bertha Roister O’Connell, Kathleen Patterson’s mother: Elena Duggan
- In memory of Ken Feller: Elena Duggan
- In memory of Farley, aka WCD: Michaela Garloff, Debra Rudman
- In memory of CH Jawat’s Golden Girl, ROM: Kathy Patterson and the Show Me Spaniels
- In memory of Harlow – Dee Torgerson-Rismyer
- In memory of Charles W. Self: Jane and Beth Williams, Kathleen Patterson
- In memory of Steve Virosteck: Kathleen Patterson
- In memory of Ruth Bumgartner: Sam and Wilma Parker
- In memory of CH Jawat’s Golden Girl, ROM: Kathy Patterson and the Show Me Spaniels
- In memory of Donna Wirth: Colleen Keough
- In memory of Darcy: Lynn Nelson
- In memory of Joe Hannah – SANS MAX: Kathy Reid, Carol Pilcher, Dena Pilcher Vincent, and Margaret Hawvermale
- In memory of Julez Blue Diamond: Quinn Ruvacava
- In memory of Ken Williams and AYCE: Regina Beinhauer,Cocker Spaniel Specialty Club of Georgia, Elena Duggan, Bob Ennis, Billy Gorodner,Harriett Kamps, Colleen Keough and Randy Lake, Diane Kepley, Debbie Knight, Karen Knight, Linda G.Moore and Laurie Foley, Sam and Wilma Parker, Kathy Patterson, Susan Roman, Kate Romanski, Marilyn Spacht, The Cocker Spaniel Club of Southeast FL
- In memory of Dorothy Mustard, Must Do Cockers: Jane and Beth Williams
- In memory of Jim Yates, Storybook Cockers: Jane and Beth Williams
- In memory of Joy Chesser, Joy's Cockers: Deborah Y. Verdon, Debutante Cockers and Cindy Sacony
- In memory of Donna Wirth: Colleen Keough
- In memory of Darcy: Lynn Nelson
- In memory of Jack Ward: Linda G. Moore and Laurie Foley
- In memory of Polly Swanson: Linda G. Moore and Laurie Foley
- In memory of Frank J. Mercer, Linda Pitts’ Father: Linda G. Moore and Laurie Foley
In memory of Althea KEPLEY, Diane Kepley’s Mother: Linda G. Moore and Laurie Foley
In memory of Linda Mayes Evans: Cocker Spaniel Club of Chattanooga
Clubs and Agility Challenges ($11,604)
- American Cocker Spaniel Club of Canada – Ontario Chapter
- American Cocker Spaniel Club of VIctoria, Australia
- American Cocker Spaniel Club of Central Ontario
- Bay Cities Cocker Spaniel Club,
- Capital City Cocker Club
- Carolina Piedmont Agility Club – Carolinas Championship Challenge
- Cocker Spaniel Club of Central Oklahoma
- Cocker Spaniel Club of Greater New Orleans
- Cocker Spaniel Club of New Jersey
- Cocker Spaniel Club of Rhode Island
- Cocker Spaniel Club of Southeast Florida
- Cocker Spaniel Club of Tulsa
- Cocker Spaniel Specialty Club of Dallas
- Cocker Spaniel Specialty Club of Georgia
- Connecticut Westchester Cocker Spaniel Club
- Maryland Cocker Spaniel Club
- Mid Michigan Cocker Spaniel Club
- Mission Valley Cocker Spaniel Club,
- Ohio Valley Cocker Spaniel Club
- Salamonie Cocker Spaniel Club
- South Atlantic Cocker Spaniel Club
- Washington State Cocker Spaniel Club
- West Coast Cocker Spaniel Club
The Cocker College Auctions ($29,948.37)
Connecticut-Westchester Cocker Spaniel Club Online Auction ($7,543)
Linda Pitts Show Preparation and Trimming Event ($5,000)
Warm Bath Challenge ($1570)
FAB Bake Sales ($2,439)
Cocker Spaniel Specialty Club of Georgia Online Auction and Raffle ($1,500)
Kenchii Scissor Raffle ($1,280.62)
Boutique Sales ($994.25)
Facebook Auction ($11,685)
Lisa Gaertner, 2016 Cocker Calendar ($250)
Jackie Curry, Christmas Photos ($220)
Cocker Spaniel National Tee Shirt Quilt by Joan Stollard ($535)
Journey To Victory Quilt and Book ($9,906)
Crate Raffle ($1835)
Fall 2017 Facebook Auction ($6,000)
Danbury Mint Cocker Christmas Tree Auction ($4000)
Kathy Korab, Sweatshirt Sales ($4410)
Jennifer LaBarera, Calendar Sales ($500)
Facebook Fundraiser – Debi Rudman ($1030)
Facebook Fundraiser – Marlene Ness ($89)
Facebook Fundraiser – Sheryl Gadol ($220)
Facebook Fundraiser – Jackie Curry ($426)
EYE SUPPORT COCKERS EVENTS
CT Westchester Cocker Spaniel Club on-line auction / Marlene Ness ($7,543)
Special thanks to Judith Webb
Auction Item Donors: ACN Review; Will Alexander; Lisa Arnett; Barbara Brickett; Ben Butler; Bettie Campbell; Helene Chausse; Vickie Clendin; Jackie Curry; Ruth Dehmel; Stacy Dobmeier; Patricia Elkins; Gay Ernst; Olga Evelyn; Lisa Gaertner; Jeffrey Hanlin; Charlotte Hansen; Edson Ideriba; Carolyn Kelley; Kelly Ladouceur; Holly Lawson; Jessica Legath; Sue Machem @ Sue’s Snoods; Rhonda Mink; Nana B’s Boutique; Maureen Paskin; Kathy Patterson; Debby Paz; Pet Portraits by Miranda; Bonnie & Wilson Pike; DiAnn Prock; Mark Ragusa; Per Rismyhr; Laura Rophkof; Debi Rudman; Joan Stallard; Kim Stanley; Suzanne of Doggletales; Sara Szauerzopf Kim Tarrington; Kim Vavolo; Judith Webb; Brent Wetnicka; Linda Zielinski
Cocker College Auction / Olga Evelyn ($23,035)
Special thanks to Stephanie Kaul and Karen Bruno Osper
Auction Item Donors: Gun Dog Supply/Affordable Kangaroo Leads; Gun Dog Supply; Bettie Campbell; Catherine Carey; Karen Cook; Joanna De Assis; Stacy Dobmeier; Tom Dowell; Deb Eastham; Patricia Elkins; Olga Evelyn; Jim Fehring; Andrea Floyd; Lisa Gaetner; Christye Groh; Kim Hampton; Laura Heidrich; Stephanie Kaul; Yelena Kuznetsova; Kelly Ladouceur; Lynda Lamensdorf; Debra Lampert-Rudman; Jessica Legath; Jackie Makoujy; Denise Mangold; David Margloin; Victoria Masterson; Kathleen Patterson; Bonnie Pike; Linda Pitts; Karen Osper; Olive Simmons; Suzanne Smith; Joann Stamm; Emily Staso; Nicole Techranchi; Rob & Teresa Tuccio; Kim Vavolo; Neville Ward; Judith Webb.
Show Prepration and trimming - The How...and the Why!/Linda Pitts ($5,095)
Special thanks to Elena Duggan, Laurie Foley, Marlene Ness, Quinn Ruvacava, and Jane Williams
Kenchii Scissor Raffle/Patricia Elkins ($1,280.62)
Calendar Sales / Lisa Geartner ($250)
Christmas Photos at SNJCSC / Jackie Curry ($220)
Boutique Sales ($994.25)
The American Spaniel Club Foundation is excited to announce that it has raised over $88,000 for "Eye Support Cockers" - representing more than half of the funds needed for the project. Highlighting this extraordinary effort have been fundraisers headed up by (top left to right) ASC members Patricia Elkins (Kinsche scissor fund-raiser), Linda Pitts (represented by Stephanie Kaul for Show Grooming - the HOW and the WHY! presented at at the St. Louis National), Olga Evelyn (Cocker College Online Auction), and (seated left to right) Marlene Ness (CT Westchester Cocker Spaniel Club online auction presented during the Fall of 2013), and Kelly Ladouceur (American Cocker Network Stud Ad fundraiser). ASCF President Julie Virosteck accepted the checks on behalf of "Eye Support Cockers".