Norwegian Forest Cat HCM DNA Research Project

 

 

NFC HCM DNA Research Study Being Conducted in the United Kingdom

**This is now a WINN funded study as of March 2013**

March 17, 2015 - this research project is still active.  See below for updates.

 

March 2015 Update (Lois Wilkie):

Appeal for help: If you own a Norwegian Forest cat that is related to a cat that died suddenly, due to cardiomyopathy, then we would like to hear from you! Please contact lwilkie@rvc.ac.uk. Ideally we would like to offer a free heart scan for these cats, but information and pedigree details are also helpful.

 

February 2015 Update (Lois Wilkie):

The past 12 months of our Winn Feline Foundation study of heart muscle disease (cardiomyopathy) in Norwegian Forest cats (NFCs) at the Royal Veterinary College (UK) has consolidated our understanding of this condition, but also raised new questions. We have evidence that cardiomyopathy is inherited in NFCs, and we have identified some common features, such as absence of a heart murmur. From microscopic examination of NFCs that have died from their heart disease, we have identified abnormalities that suggest NFC cardiomyopathy shares some features of hypertrophic cardiomyopathy (HCM) as well as the less commonly seen restrictive cardiomyopathy (RCM).
The characteristics of NFC cardiomyopathy make is particularly challenging to diagnose before disease is advanced- veterinarians are unlikely to hear anything abnormal when listening to an affected cat’s heart, and even echocardiographic screening with ultrasound can be challenging in the early stages as subtle thickening of the walls of the heart is easy to miss. Our experience has been that normal or mildly affected cats are presented for echocardiographic screening, and severely affected cats deteriorate so rapidly that they can only be investigated by autopsy. For this reason, we wanted to evaluate blood tests (the ‘biomarkers’ NT-proBNP and Troponin-I) as an alternative way to detect NFCs at risk. In the past year we have found that although there are slight differences in NT-proBNP and Troponin-I concentrations in the bloodstream of normal NFCs and NFCs with cardiomyopathy, these differences are not statistically significant. We suspect that these blood tests may still be useful for identifying cats with advanced disease that are not yet showing symptoms, but we have not yet seen any NFCs in this category. We therefore plan to continue measuring biomarkers in cats we screen, and we would like to obtain longer follow-up in tested cats.
Samples have also been stored for future DNA analysis, and by collaborating with geneticists and human cardiomyopathy specialists, we hope to identify the underlying cause of NFC cardiomyopathy, and ultimately, a blood test or cheek swab test to identify affected NFC.
We are extremely grateful for all the support we have received from NFC breeders and owners so far. We still need your continued support, and in particular we need to see those NFCs who are more severely affected with cardiomyopathy, as well as normal older cats (aged 7 years or older).
Our hope is that with your help, we can find the underlying cause of this distressing disease and thus help breeders identify affected cats prior to making breeding decisions.

 

December 2014 Update (Melissa Alexander):

Update on HCM Research in the Norwegian Forest Cat – A study led by Dr Virginia Luis Fuentes of the Royal Veterinary Collage (RVC) (December 2014)

In March 2015, a new research cardiologist will join Dr Virginia Luis Fuentes’ team and will fill the need for a more available resource to perform echocardiograms. Virginia’s time has been very limited this year so this new addition will allow for more NFC HCM screening in 2015. There are still WINN funds available to screen NFC’s in the UK through 2015. Please pass the word to those living in or able to travel to the UK for an echocardiogram. In addition to performing scans, this new addition will help the team take full advantage of the collaboration with Professor Elliott at University College London. Virginia also has a new geneticist who is going to help us genotype the NFC samples.

Virginia went on to report that she is becoming more and more convinced that the key cases are those NFC that die from their cardiomyopathy, which means that as well as the heart, they will need tissue (such as spleen) that is NOT fixed in formalin. She explained that this will yield the DNA that will be essential for the genotyping. As Lois pointed out in a thread from earlier this week, two or three normal hearts (and unfixed tissue such as spleen) from older NFC might be all that is needed for them to move things forward with the genotyping. Virginia also mentioned they are discussing Next Generation Sequencing, which is expensive , but they want the NFC to be the first group of cats they try with this.

At this point there is no need for additional funding from WINN however in 2016 there will be. I’m sure we will be receiving periodic updates throughout 2015 from Virginia and her team. I’m excited for these next steps and really excited for 2016! As a breed group we should focus our efforts on fundraising in 2015 so that there will be plenty of money earmarked at WINN for the upcoming research.

Finally, I would ask that breeders in the UK please spread the word about the free HCM screening and the need for two or three normal hearts (and unfixed tissue such as spleen) from older NFC’s. The latter is very important and I believe only our friends in the UK can help us with that.

Please join me in thanking Virginia, Lois, and any ‘behind the scenes’ RVC personal who dedicate their time and effort to our beloved breed. We appreciate all you do. Also, thank you to all the owners who selflessly submitted their cats hearts for the study. Without you we would not be where we are today in regards to NFC HCM research.

November 2014 Update (Research Paper):

Familial cardiomyopathy in Norwegian Forest cats 

October 2013: NFC Webinar / Fundraiser with Dr Virginia Luis Fuentes (Transcript)

Transcript

Access to 2 hour video with Dr Luis Fuentes and breeders around the world is available with a $20 donation to the NFC HCM Fund at WINN.  Please email Melissa Alexander for details. 

 

Details of Needs and Requirements

In an effort to make participation easier and more cost effective for US and Canadian residents, Dr Leslie Lyons, fellow member of the FCC, has agreed to accept blood samples for Dr Virginia Luis Fuentes Norwegian Forest Cat HCM DNA study. While anyone is welcomed to send samples to Dr Lyons, it may be easier for Europeans to submit samples to Prof. Jens Häggström in Sweden. Prof. Jens Häggström is also a member of the FCC and will share the data with Dr Luis Fuentes (follow the same process of notifying Dr Luis Fuentes below*) Details on how to submit samples to Sweden can be found here: http://nfchcm.com/Swedish_Study_2011.htm

Profile of cats qualifying for the study:

• Blood samples from old cats over age 7 with normal recent echos* and not related to cats diagnosed as having HCM/RCM or deceased as a result of HCM/RCM. 
(Relatives include: Parents, offspring or siblings) 
*As long as the scan was carried out when the cat was over 7 years of age it doesn’t matter how ‘recent’.

• Blood samples from severely affected cats with HCM/RCM

• If you have previously sent samples to Dr Luis Fuentes, send in any new echo results by email or postal mail.

• If you have sent in DNA of a NFC that died of HCM for a different project, please provide us with information on how to contact the lab/researcher



What to send:

· blood sample - 3ml. Can be shipped at room temperature, but tube needs to be stirred at sampling to avoid coagulation. Please, mark the tube with the full registered name of the cat, should be an exact match to the name on the pedigree you send.  edta blood tube (purple top) should be used for this sample.

· a copy of the pedigree

· Screening results (send any/all results you have for this cat)

· Your personal information - name, address, email, phone number. 

· Send an email to Dr Virginia Luis Fuentes and her team at
NFC@rvc.ac.uk to alert them that you have sent a sample.  Include date sent, a scanned copy of the pedigree, screening results, and your personal information. * 


 

Where to send in UK:

Clinical Investigation Centre
FAO: NFC HCM Study
Royal Veterinary College
Hawkshead Lane
North Mymms
Hatfield, Herts.
AL9 7TA
United Kingdom

email: NFC@rvc.ac.uk

 

Where to send in US:

Leslie A. Lyons, PhD
Gilbreath-McLorn Endowed Professor of Comparative Medicine
Department of Veterinary Medicine & Surgery
College of Veterinary Medicine
E109 Vet Med Building, 1600 E. Rollins St.
University of Missouri - Columbia
Columbia, MO 65211
Lyonsla@Missouri.edu  Phone: 01 573 882 9777
Lab: 01 573 884 2287 Lab e-mail: felinegenome@missouri.edu
 

Visit the Royal Veterinary College (RVC) Heart Screening Project website here

Questions? email me at melissa@iwcats.com or call/text 508.415.9406

 

 

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