GENETICS STUDY RESULTS!
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Please note: If you are new to our organization, and want more general background information
on the study, please visit our main research page:
on the study, please visit our main research page:
Genetics Study Results!!
"First Genome-Wide Association Study Investigating
Blood Pressure and Renal Traits
in Domestic Cats".
"First Genome-Wide Association Study Investigating
Blood Pressure and Renal Traits
in Domestic Cats".
Dear Friends:
Thank you!! With your generous support, we provided $20,000.00 to The Royal Veterinary College (RVC), in London to help fund the world’s very first, and impressively large Genome Wide Association Study (GWAS)* to evaluate renal function and blood pressure traits in domestic cats! The findings constitute a significant step in the quest for valuable information about the development of Feline Chronic Kidney Disease (CKD) and hypertension (HTN) in felines!
Approximately 1 in 3 cats will develop Feline CKD, and approximately 30% of cats with CKD will be simultaneously diagnosed with hypertension. In humans, both CKD and hypertension are complex disorders, potentially affected by genetic, lifestyle and environmental factors. Information about the etiology of CKD and HTN in feline medicine is currently quite limited—one of the reasons why this study is so valuable.
The goals of this research were to perform a GWAS for renal and blood pressure traits in felines, both individually, and in concert with each other, and to explore the development of genetic risk scores (GRS) which could help evaluate cats’ individual risks of developing CKD and/or HTN. This approach has been utilized in human medicine.
The research team, led by principal investigator Dr. Rosanne Jepson, (an All-Star in the field of Feline CKD research), examined blood samples** and medical records of 1,022 domestic cats, looking for genetic associations with CKD and HTN. The GWAS approach uses a feline microarray*** that characterizes over 63,000 known genes, and their variants, which are known as SNPs (pronounced “snips”).**** By examining the existing feline genome in concert with cats' individual genetic profiles and medical histories, the research team endeavored to discover the influence of genes and SNPS on CKD and HTN in cats.
This study consisted of three stages:
1. A discovery stage: A primary analysis was conducted for the quantitative traits Systolic Blood Pressure (SBP), and the biomarker creatinine***** in 842 cats.
2. A replication stage: Any SNPs of interest from the discovery stage were followed up by analyzing their value in a replication cohort of 180 cats.
3. A validation/meta-analysis stage: Data from the discovery and replication stages were combined together into one large sample and analyzed.
We are excited to report that, in the meta-analysis stage, one SNP reached experiment-wide statistical significance for association with elevated creatinine! We are especially proud and thankful to our supporters because the replication phase, which was funded entirely with funds from FFRR, was critical to the outcome! Without it, the meta-analysis resulting in this discovery would not have been possible!
By directing us towards biochemical pathways which are affected by this SNP, and which may be involved in CKD, and possibly HTN development, we are hopeful that this work will help lead us to new means of treating, or possibly even preventing CKD in cats. Dr. Jepson says: “This was an exciting opportunity to explore potential genetic influences on the development of chronic kidney disease and systemic hypertension in cats. This study has shown us, as proof of concept, that large scale genomic studies will be important for understanding the pathogenesis of such complex disease conditions and may help to identify novel pathways as targets for diagnosis and management in the future.”
As this is a novel, groundbreaking study, we must be mindful that, in keeping with proper scientific protocols, additional validation work is necessary.
This study result is the culmination of several years of hard work, and is a significant and wonderful step in the quest for a Feline CKD-free future! We are so grateful to you for helping to make this work possible! There is still a long road ahead of us--research is a slow and methodical process, and scientific progress is made through thoughtful, evidence-based inquiry. We are so fortunate to have you as allies in the battle against Feline CKD--thank you again!!
* A Genome Wide Association Study (GWAS) is a method of research used to identify gene and SNP**** variants that are statistically associated with a risk for a disease or a particular trait. It requires that we analyze a large group of individuals to look for variants that occur more frequently in those with a specific disease or trait compared to those without the disease or trait.
** We will not fund any research that harms or exploits animals. The DNA that was studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
*** A microarray is a device roughly the size of a microscope slide bearing synthetic DNA segments that correspond to genes found in the cat population (feline genome). After the actual DNA samples from cats are applied to the array, they were compared to the synthetic segments to see where they deviate from “normal” DNA composition. The samples were also compared to each other, and were analyzed using the information contained in the cats’ medical records to determine which genetic associations warrant further investigation for possible connections to Feline Chronic Kidney Disease and hypertension.
**** SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between individuals in the basic building blocks that make up the DNA. When certain SNPs occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
***** Creatinine is a normal by-product of muscle activity, and is normally removed from the body by the kidneys. When the kidneys are not functioning properly, they do not properly remove creatinine from the body, and it remains circulating in the bloodstream, in varying amounts depending on the degree of renal dysfunction.
Read the full published scientific article here: https://www.nature.com/articles/s41598-022-05494-3
Jepson, R.E., Warren, H., Wallace, M.D. et al. First genome-wide association study investigating blood pressure and renal traits in domestic cats. Sci Rep 12, 1899 (2022). https://doi.org/10.1038/s41598-022-05494-3.
Thank you!! With your generous support, we provided $20,000.00 to The Royal Veterinary College (RVC), in London to help fund the world’s very first, and impressively large Genome Wide Association Study (GWAS)* to evaluate renal function and blood pressure traits in domestic cats! The findings constitute a significant step in the quest for valuable information about the development of Feline Chronic Kidney Disease (CKD) and hypertension (HTN) in felines!
Approximately 1 in 3 cats will develop Feline CKD, and approximately 30% of cats with CKD will be simultaneously diagnosed with hypertension. In humans, both CKD and hypertension are complex disorders, potentially affected by genetic, lifestyle and environmental factors. Information about the etiology of CKD and HTN in feline medicine is currently quite limited—one of the reasons why this study is so valuable.
The goals of this research were to perform a GWAS for renal and blood pressure traits in felines, both individually, and in concert with each other, and to explore the development of genetic risk scores (GRS) which could help evaluate cats’ individual risks of developing CKD and/or HTN. This approach has been utilized in human medicine.
The research team, led by principal investigator Dr. Rosanne Jepson, (an All-Star in the field of Feline CKD research), examined blood samples** and medical records of 1,022 domestic cats, looking for genetic associations with CKD and HTN. The GWAS approach uses a feline microarray*** that characterizes over 63,000 known genes, and their variants, which are known as SNPs (pronounced “snips”).**** By examining the existing feline genome in concert with cats' individual genetic profiles and medical histories, the research team endeavored to discover the influence of genes and SNPS on CKD and HTN in cats.
This study consisted of three stages:
1. A discovery stage: A primary analysis was conducted for the quantitative traits Systolic Blood Pressure (SBP), and the biomarker creatinine***** in 842 cats.
2. A replication stage: Any SNPs of interest from the discovery stage were followed up by analyzing their value in a replication cohort of 180 cats.
3. A validation/meta-analysis stage: Data from the discovery and replication stages were combined together into one large sample and analyzed.
We are excited to report that, in the meta-analysis stage, one SNP reached experiment-wide statistical significance for association with elevated creatinine! We are especially proud and thankful to our supporters because the replication phase, which was funded entirely with funds from FFRR, was critical to the outcome! Without it, the meta-analysis resulting in this discovery would not have been possible!
By directing us towards biochemical pathways which are affected by this SNP, and which may be involved in CKD, and possibly HTN development, we are hopeful that this work will help lead us to new means of treating, or possibly even preventing CKD in cats. Dr. Jepson says: “This was an exciting opportunity to explore potential genetic influences on the development of chronic kidney disease and systemic hypertension in cats. This study has shown us, as proof of concept, that large scale genomic studies will be important for understanding the pathogenesis of such complex disease conditions and may help to identify novel pathways as targets for diagnosis and management in the future.”
As this is a novel, groundbreaking study, we must be mindful that, in keeping with proper scientific protocols, additional validation work is necessary.
This study result is the culmination of several years of hard work, and is a significant and wonderful step in the quest for a Feline CKD-free future! We are so grateful to you for helping to make this work possible! There is still a long road ahead of us--research is a slow and methodical process, and scientific progress is made through thoughtful, evidence-based inquiry. We are so fortunate to have you as allies in the battle against Feline CKD--thank you again!!
* A Genome Wide Association Study (GWAS) is a method of research used to identify gene and SNP**** variants that are statistically associated with a risk for a disease or a particular trait. It requires that we analyze a large group of individuals to look for variants that occur more frequently in those with a specific disease or trait compared to those without the disease or trait.
** We will not fund any research that harms or exploits animals. The DNA that was studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
*** A microarray is a device roughly the size of a microscope slide bearing synthetic DNA segments that correspond to genes found in the cat population (feline genome). After the actual DNA samples from cats are applied to the array, they were compared to the synthetic segments to see where they deviate from “normal” DNA composition. The samples were also compared to each other, and were analyzed using the information contained in the cats’ medical records to determine which genetic associations warrant further investigation for possible connections to Feline Chronic Kidney Disease and hypertension.
**** SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between individuals in the basic building blocks that make up the DNA. When certain SNPs occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
***** Creatinine is a normal by-product of muscle activity, and is normally removed from the body by the kidneys. When the kidneys are not functioning properly, they do not properly remove creatinine from the body, and it remains circulating in the bloodstream, in varying amounts depending on the degree of renal dysfunction.
Read the full published scientific article here: https://www.nature.com/articles/s41598-022-05494-3
Jepson, R.E., Warren, H., Wallace, M.D. et al. First genome-wide association study investigating blood pressure and renal traits in domestic cats. Sci Rep 12, 1899 (2022). https://doi.org/10.1038/s41598-022-05494-3.
Previous Updates:
December 3, 2019: We are pleased to report that this study is nearing conclusion! Final statistical analysis is being performed, and a manuscript will then be prepared for publication. This stage is lengthy; rest assured that we will provide an update as soon as new information is available! Many thanks to everyone who has donated to help make this important research possible! Please look here for information about our latest study!
SIXTH STUDY UPDATE
November 5, 2018
Dear Friends:
We’ve received the 6th update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from Principal Investigator Rosanne Jepson, BVSc, MVetMed, PhD, DipACVIM, DipECVIM, FHEA, MRCVS, of The Royal Veterinary College, London. To briefly recap: Feline Chronic Kidney Disease (CKD) and hypertension very often go hand in hand. In this study, we are trying to determine if there are genes in cats that are associated with Feline CKD and/or hypertension. If such genes could be located, it might be possible to identify cats who are at risk, and institute therapies to help delay progression. We might, eventually, even be able to perform gene therapy to avoid the deleterious effects of such genes.
This study is almost complete, and, there is one SNP * that looks as though it could be significant. Investigation will now be undertaken to explore this SNP in more detail, to try to determine if it’s proximity to certain genes may cause it to exert an influence on those genes that causes a propensity for Chronic Kidney Disease and/or hypertension. Following this work, a manuscript compiling the final results of the study will then be prepared and submitted for publication in prominent veterinary journals to benefit the scientific community, and help shape and direct future research.
Research requires patience and persistence, and science moves forward through thoughtful, evidenced-based inquiry. The process is neither quick, nor simple; thank you very much for standing with us in the battle against Feline CKD. We look forward to providing you with an additional update soon.
* SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between individuals in the basic building blocks that make up the DNA. When certain SNP’s occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
** We will not fund any research that causes harm to animals. The DNA being studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
Dear Friends:
We’ve received the 6th update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from Principal Investigator Rosanne Jepson, BVSc, MVetMed, PhD, DipACVIM, DipECVIM, FHEA, MRCVS, of The Royal Veterinary College, London. To briefly recap: Feline Chronic Kidney Disease (CKD) and hypertension very often go hand in hand. In this study, we are trying to determine if there are genes in cats that are associated with Feline CKD and/or hypertension. If such genes could be located, it might be possible to identify cats who are at risk, and institute therapies to help delay progression. We might, eventually, even be able to perform gene therapy to avoid the deleterious effects of such genes.
This study is almost complete, and, there is one SNP * that looks as though it could be significant. Investigation will now be undertaken to explore this SNP in more detail, to try to determine if it’s proximity to certain genes may cause it to exert an influence on those genes that causes a propensity for Chronic Kidney Disease and/or hypertension. Following this work, a manuscript compiling the final results of the study will then be prepared and submitted for publication in prominent veterinary journals to benefit the scientific community, and help shape and direct future research.
Research requires patience and persistence, and science moves forward through thoughtful, evidenced-based inquiry. The process is neither quick, nor simple; thank you very much for standing with us in the battle against Feline CKD. We look forward to providing you with an additional update soon.
* SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between individuals in the basic building blocks that make up the DNA. When certain SNP’s occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
** We will not fund any research that causes harm to animals. The DNA being studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
FIFTH STUDY UPDATE
November 10, 2017
Dear Friends:
We’ve received the 5th update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from Principal Investigator Rosanne Jepson, BVSc, MVetMed, PhD, DipACVIM, DipECVIM, FHEA, MRCVS, of The Royal Veterinary College, London. To briefly recap: Feline Chronic Kidney Disease (CKD) and hypertension very often go hand in hand. In this study, we are trying to determine if there are genes in cats that are associated with Feline CKD and/or hypertension. If such genes could be located, it might be possible to identify cats who are at risk, and institute therapies to help delay progression. We might, eventually, even be able to perform gene therapy to avoid the deleterious effects of such genes.
The results of this most recent stage continue to suggest that there may be a genetic link(s), but pinpointing the source of a relationship is difficult. All of the SNPs* have been reviewed, and the ones that show the most promise, together with the genes located in very close proximity to them have been selected for inclusion in the upcoming “validation” stage of the study.
In the upcoming validation stage, we will be reviewing new DNA samples from 200 additional cats. ** This will bring the total number of samples in the study to 1000, making it the largest study of its kind to date. Dr. Jepson and her team will review the SNPs to see if the earlier results can be confirmed, and to see if genetic relationships become more apparent. The 200 new blood samples for the upcoming validation stage have been selected, and the DNA has been extracted. The process is time and labor-intensive, but multiple layers of investigation, validation, and confirmation are essential in research to ensure accuracy.
Much of what happens in veterinary research takes it’s cues from the results of human research (which is typically at a more advanced stage than its veterinary counterpart), and Feline CKD research is no exception. In this most recent phase of this study, in addition to evaluating the samples with regard to clinical information about CKD and hypertension available from the cats’ medical records, we also used information from known genetic associations with blood pressure and renal function in humans. The samples were reviewed to determine if there may be analogous SNPs on the feline array, which similarly correspond to blood pressure and/or kidney function, and would therefore warrant further validation. The resulting data suggests that neither renal function nor hypertension are as heritable in the cat as would be expected based on corresponding human data.
We look forward to keeping you up to date on the research you are making possible; thank you so much for being an important part of the progress.
* SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between the building blocks that make up the DNA of different individuals. When certain SNP’s occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
** We will not fund any research that causes harm to animals. The DNA being studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
Dear Friends:
We’ve received the 5th update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from Principal Investigator Rosanne Jepson, BVSc, MVetMed, PhD, DipACVIM, DipECVIM, FHEA, MRCVS, of The Royal Veterinary College, London. To briefly recap: Feline Chronic Kidney Disease (CKD) and hypertension very often go hand in hand. In this study, we are trying to determine if there are genes in cats that are associated with Feline CKD and/or hypertension. If such genes could be located, it might be possible to identify cats who are at risk, and institute therapies to help delay progression. We might, eventually, even be able to perform gene therapy to avoid the deleterious effects of such genes.
The results of this most recent stage continue to suggest that there may be a genetic link(s), but pinpointing the source of a relationship is difficult. All of the SNPs* have been reviewed, and the ones that show the most promise, together with the genes located in very close proximity to them have been selected for inclusion in the upcoming “validation” stage of the study.
In the upcoming validation stage, we will be reviewing new DNA samples from 200 additional cats. ** This will bring the total number of samples in the study to 1000, making it the largest study of its kind to date. Dr. Jepson and her team will review the SNPs to see if the earlier results can be confirmed, and to see if genetic relationships become more apparent. The 200 new blood samples for the upcoming validation stage have been selected, and the DNA has been extracted. The process is time and labor-intensive, but multiple layers of investigation, validation, and confirmation are essential in research to ensure accuracy.
Much of what happens in veterinary research takes it’s cues from the results of human research (which is typically at a more advanced stage than its veterinary counterpart), and Feline CKD research is no exception. In this most recent phase of this study, in addition to evaluating the samples with regard to clinical information about CKD and hypertension available from the cats’ medical records, we also used information from known genetic associations with blood pressure and renal function in humans. The samples were reviewed to determine if there may be analogous SNPs on the feline array, which similarly correspond to blood pressure and/or kidney function, and would therefore warrant further validation. The resulting data suggests that neither renal function nor hypertension are as heritable in the cat as would be expected based on corresponding human data.
We look forward to keeping you up to date on the research you are making possible; thank you so much for being an important part of the progress.
* SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between the building blocks that make up the DNA of different individuals. When certain SNP’s occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
** We will not fund any research that causes harm to animals. The DNA being studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
FOURTH STUDY UPDATE
March 1, 2017
Dear Friends:
We’ve received the 4th update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from Principal Investigator Rosanne Jepson, BVSc, MVetMed, PhD, DipACVIM, DipECVIM, FHEA, MRCVS. To briefly recap: Feline Chronic Kidney Disease (CKD) and hypertension very often go hand in hand. In this study, we are trying to determine if there are genes in cats that are associated with Feline CKD and/or hypertension. If such genes can be located, it may be possible to identify cats who are at risk, and institute therapies to help delay progression. We may, eventually, even be able to perform gene therapy to avoid the deleterious effects of such genes.
Scientific research is methodical by nature, and requires patience and persistence. We are pleased to report that steady progress is being made, and that the study is on track to meet it’s goals of determining if there are any genes which are associated with kidney function and/or hypertension.
One early result from the study is that no associations between CKD and/or blood pressure were identified with respect to cats’ shorthair versus longhair status, gender or body weight.
Furthermore, primary analyses have resulted in the identification of SNPs* which appear to be significant i.e.: somehow associated with blood pressure and/or creatinine level. (Creatinine is the blood biomarker most commonly used as an indicator of CKD presence and progression.) This is very encouraging. But, research requires multiple layers of investigation, validation and confirmation to ensure accuracy. There is a chance that apparent association may not be meaningful; it could be insignificant or coincidental. Further investigation in this study will give us clues as to whether or not these apparent associations are meaningful, and will help us better understand these SNPs so that we can determine which ones show the most promise. A decision can then be made as to which ones are particularly worthy of follow-up validation in an upcoming cohort of blood samples** from an additional 200 cats. The process is time-intensive, but is essential to ensure that the most relevant SNP’s receive further evaluation.
We are very excited about the potential of this study, and are very much looking forward to providing you with the next update. By making this groundbreaking work possible, you are helping to create a healthier future for cats. Your support is invaluable; thank you for being part of the progress.
* SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between the building blocks that make up the DNA of different individuals. When certain SNP’s occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
** We will not fund any research that causes harm to animals. The DNA being studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
Dear Friends:
We’ve received the 4th update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from Principal Investigator Rosanne Jepson, BVSc, MVetMed, PhD, DipACVIM, DipECVIM, FHEA, MRCVS. To briefly recap: Feline Chronic Kidney Disease (CKD) and hypertension very often go hand in hand. In this study, we are trying to determine if there are genes in cats that are associated with Feline CKD and/or hypertension. If such genes can be located, it may be possible to identify cats who are at risk, and institute therapies to help delay progression. We may, eventually, even be able to perform gene therapy to avoid the deleterious effects of such genes.
Scientific research is methodical by nature, and requires patience and persistence. We are pleased to report that steady progress is being made, and that the study is on track to meet it’s goals of determining if there are any genes which are associated with kidney function and/or hypertension.
One early result from the study is that no associations between CKD and/or blood pressure were identified with respect to cats’ shorthair versus longhair status, gender or body weight.
Furthermore, primary analyses have resulted in the identification of SNPs* which appear to be significant i.e.: somehow associated with blood pressure and/or creatinine level. (Creatinine is the blood biomarker most commonly used as an indicator of CKD presence and progression.) This is very encouraging. But, research requires multiple layers of investigation, validation and confirmation to ensure accuracy. There is a chance that apparent association may not be meaningful; it could be insignificant or coincidental. Further investigation in this study will give us clues as to whether or not these apparent associations are meaningful, and will help us better understand these SNPs so that we can determine which ones show the most promise. A decision can then be made as to which ones are particularly worthy of follow-up validation in an upcoming cohort of blood samples** from an additional 200 cats. The process is time-intensive, but is essential to ensure that the most relevant SNP’s receive further evaluation.
We are very excited about the potential of this study, and are very much looking forward to providing you with the next update. By making this groundbreaking work possible, you are helping to create a healthier future for cats. Your support is invaluable; thank you for being part of the progress.
* SNP is an abbreviation for “Single Nucleotide Polymorphism”, and is pronounced “snip”. Genes are made up of DNA. DNA carries an individual’s genetic instructions. SNPs represent differences that exist between the building blocks that make up the DNA of different individuals. When certain SNP’s occur within genes, or near enough to a particular gene to influence it’s functioning, the SNPs may cause a particular characteristic, or a propensity for a particular disease.
** We will not fund any research that causes harm to animals. The DNA being studied was derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
THIRD STUDY UPDATE
September 10, 2016
Dear Friends:
We've received the latest update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from the Principal Investigator Rosanne Jepson, BVSc (Dist), MVetMed, PhD, DipACVIM, DipECVIM, MRCVS. Here’s what’s happening:
Quality control is essential at every stage of research to ensure accurate results, and has played a particularly prominent and important role during this most recent phase of the study, as preparations are made for the upcoming statistical analysis stage. More specifically:
I. Completed/Nearly Completed Quality Controls:
A. Quality Control of Microarrays: A quality analysis of the approximately 900 microarrays*, each containing thousands of synthetic DNA strands to which the approximately 900 cats’ DNA samples** will be compared to look for possible associations with Feline Chronic Kidney Disease (Feline CKD) and hypertension, has been performed. Of the original 62,879 individual pieces of genetic material contained on each microarray (each piece is known as a “single-nucleotide polymorphism”, or “SNP”), 57,509 have been deemed to meet the requisite quality standards, and will be included in the upcoming statistical analysis.
B. Quality Control of Blood Samples: Quality control of the DNA extracted from the cats’ blood samples is nearly complete. If a sample is of poor quality, when it is applied to a microarray, it may yield results that can’t be read and interpreted in a meaningful, accurate way. Therefore, to insure accurate study results, samples yielding such low quality readings will be eliminated from analysis.
II. Ongoing Quality Controls:
A. Inbreeding: Similarities between cats’ genes will be examined, and those who are deemed too closely related genetically to give an accurate reflection of genuine genetic variation and diversity across the cat population will have their samples disqualified from analysis.
B. Genetic Differences Between Shorthaired and Longhaired Cats: Genetic differences between Domestic Shorthair and Domestic Longhair cats will be analyzed to determine if their statistical results should be considered together, or if the two groups are so genetically dissimilar that they should be considered separately. This means that the trait of longhair vs. shorthair could be viewed as a possible genetic co-factor, along with other discovered genetic factors, that may be associated with Feline CKD and hypertension. When the statistical analysis phase is well underway, and the genetic makeup of these two types of cats becomes more apparent, a decision will be made as to whether viewing them as one group, or as two separate groups, will give more meaningful results that will help provide direction for further study.
We are very excited to be heading into the statistical analysis phase, where genes are analyzed to see which ones may be associated with Feline CKD and hypertension. We look forward to keeping you up to date on the research YOU are making possible. Thank you so much for helping us work toward a future where no cat will know the pain and suffering of kidney disease.
* A microarray is a device roughly the size of a microscope slide bearing synthetic DNA segments that correspond to genes found in the cat population (feline genome). After the actual DNA samples from cats are applied to the array, they can be compared to the synthetic segments to see where they deviate from “normal” DNA composition. The samples will also be compared to each other, and analyzed using the knowledge contained in the cats’ medical records to determine which genetic associations warrant further investigation for possible connections to Feline Chronic Kidney Disease and hypertension.
** We will not fund any research that causes harm to animals. The DNA that will be studied is derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
Dear Friends:
We've received the latest update to the genetics study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat” from the Principal Investigator Rosanne Jepson, BVSc (Dist), MVetMed, PhD, DipACVIM, DipECVIM, MRCVS. Here’s what’s happening:
Quality control is essential at every stage of research to ensure accurate results, and has played a particularly prominent and important role during this most recent phase of the study, as preparations are made for the upcoming statistical analysis stage. More specifically:
I. Completed/Nearly Completed Quality Controls:
A. Quality Control of Microarrays: A quality analysis of the approximately 900 microarrays*, each containing thousands of synthetic DNA strands to which the approximately 900 cats’ DNA samples** will be compared to look for possible associations with Feline Chronic Kidney Disease (Feline CKD) and hypertension, has been performed. Of the original 62,879 individual pieces of genetic material contained on each microarray (each piece is known as a “single-nucleotide polymorphism”, or “SNP”), 57,509 have been deemed to meet the requisite quality standards, and will be included in the upcoming statistical analysis.
B. Quality Control of Blood Samples: Quality control of the DNA extracted from the cats’ blood samples is nearly complete. If a sample is of poor quality, when it is applied to a microarray, it may yield results that can’t be read and interpreted in a meaningful, accurate way. Therefore, to insure accurate study results, samples yielding such low quality readings will be eliminated from analysis.
II. Ongoing Quality Controls:
A. Inbreeding: Similarities between cats’ genes will be examined, and those who are deemed too closely related genetically to give an accurate reflection of genuine genetic variation and diversity across the cat population will have their samples disqualified from analysis.
B. Genetic Differences Between Shorthaired and Longhaired Cats: Genetic differences between Domestic Shorthair and Domestic Longhair cats will be analyzed to determine if their statistical results should be considered together, or if the two groups are so genetically dissimilar that they should be considered separately. This means that the trait of longhair vs. shorthair could be viewed as a possible genetic co-factor, along with other discovered genetic factors, that may be associated with Feline CKD and hypertension. When the statistical analysis phase is well underway, and the genetic makeup of these two types of cats becomes more apparent, a decision will be made as to whether viewing them as one group, or as two separate groups, will give more meaningful results that will help provide direction for further study.
We are very excited to be heading into the statistical analysis phase, where genes are analyzed to see which ones may be associated with Feline CKD and hypertension. We look forward to keeping you up to date on the research YOU are making possible. Thank you so much for helping us work toward a future where no cat will know the pain and suffering of kidney disease.
* A microarray is a device roughly the size of a microscope slide bearing synthetic DNA segments that correspond to genes found in the cat population (feline genome). After the actual DNA samples from cats are applied to the array, they can be compared to the synthetic segments to see where they deviate from “normal” DNA composition. The samples will also be compared to each other, and analyzed using the knowledge contained in the cats’ medical records to determine which genetic associations warrant further investigation for possible connections to Feline Chronic Kidney Disease and hypertension.
** We will not fund any research that causes harm to animals. The DNA that will be studied is derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
SECOND STUDY UPDATE
February 9, 2016
Dear Friends,
As you know, with your help, we granted $20,000 to the Royal Veterinary College, London, in support of their study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat”. We’re pleased to share with you that we’ve just received our second progress report from the Principal Investigator on the study, Dr. Rosanne Jepson, BVSc (Dist), MVetMed, PhD, DipACVIM, DipECVIM, MRCVS. Here’s what she told us:
1. Blood samples* from 900 cats have been selected from the existing library of available samples.
2. DNA has been extracted and quantified to help ensure proper DNA quality and sample size in preparation for analysis. (Additional stages of quality control will be carried out prior to final analysis.)
3. A careful review of the clinical data from the corresponding medical records, with attention to relevant factors including creatine levels and blood pressure measurements, has begun.
4. The microarrays** upon which the DNA samples will be applied for analysis will be arriving this month, and the first stage of DNA analysis will soon begin.
In summary, the study is going very well. The only difficulty encountered so far pertained to the concentration of the DNA in some of the samples. Microarray, or “chip” technology, is relatively new, and is very new in the area of feline research. It requires that the DNA to be analyzed be of a certain concentration to yield results. Some blood samples in the database had to be passed over for use at this stage because the DNA could not be concentrated enough for microarray analysis. Even so, the database is quite large, and there were enough samples to meet the requirements for this first stage of the study. And, with new samples continually being acquired, as well as a new preservative being added to the samples prior to freezing which makes concentrating the DNA easier, it’s unlikely that there will be difficulty obtaining the 200 samples required for the second stage. (The second stage is not due to begin for several months, and is set to run through 2017.)
We’re very excited about the future of this study, and of those that will follow. We look forward to keeping you posted; thank you so much for being part of the progress.
* We will not fund any research that causes harm to animals. The DNA that will be studied is derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
** A microarray is a device roughly the size of a microscope slide bearing synthetic DNA segments that correspond to normal genes. After the actual DNA samples from cats are applied to the array, they can be compared to the synthetic segments to see where they deviate from normal DNA composition. Deviations will warrant further investigation for possible connections to Feline Chronic Kidney Disease and Hypertension.
Dear Friends,
As you know, with your help, we granted $20,000 to the Royal Veterinary College, London, in support of their study “Unravelling the Genetic Basis of Blood Pressure and Kidney Function in the Cat”. We’re pleased to share with you that we’ve just received our second progress report from the Principal Investigator on the study, Dr. Rosanne Jepson, BVSc (Dist), MVetMed, PhD, DipACVIM, DipECVIM, MRCVS. Here’s what she told us:
1. Blood samples* from 900 cats have been selected from the existing library of available samples.
2. DNA has been extracted and quantified to help ensure proper DNA quality and sample size in preparation for analysis. (Additional stages of quality control will be carried out prior to final analysis.)
3. A careful review of the clinical data from the corresponding medical records, with attention to relevant factors including creatine levels and blood pressure measurements, has begun.
4. The microarrays** upon which the DNA samples will be applied for analysis will be arriving this month, and the first stage of DNA analysis will soon begin.
In summary, the study is going very well. The only difficulty encountered so far pertained to the concentration of the DNA in some of the samples. Microarray, or “chip” technology, is relatively new, and is very new in the area of feline research. It requires that the DNA to be analyzed be of a certain concentration to yield results. Some blood samples in the database had to be passed over for use at this stage because the DNA could not be concentrated enough for microarray analysis. Even so, the database is quite large, and there were enough samples to meet the requirements for this first stage of the study. And, with new samples continually being acquired, as well as a new preservative being added to the samples prior to freezing which makes concentrating the DNA easier, it’s unlikely that there will be difficulty obtaining the 200 samples required for the second stage. (The second stage is not due to begin for several months, and is set to run through 2017.)
We’re very excited about the future of this study, and of those that will follow. We look forward to keeping you posted; thank you so much for being part of the progress.
* We will not fund any research that causes harm to animals. The DNA that will be studied is derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats’ human family members.
** A microarray is a device roughly the size of a microscope slide bearing synthetic DNA segments that correspond to normal genes. After the actual DNA samples from cats are applied to the array, they can be compared to the synthetic segments to see where they deviate from normal DNA composition. Deviations will warrant further investigation for possible connections to Feline Chronic Kidney Disease and Hypertension.
FIRST STUDY UPDATE
August 10, 2015
Dear Friends,
As you know, we granted $20,000.00 to the Royal Veterinary College, London, in support of their groundbreaking study, “Unravelling the Genetic Basis of Blood Pressure and Kidney Function In the Cat”. Research is a slow process and, like so many things worth doing, it requires patience and persistence. Although the study is still at a very early stage, we thought you’d like to hear what’s happening. We received our first Progress Report from the Principal Investigator on the study, Dr. Rosanne Jepson, BVSc (Dist), MVetMed, PhD, DipACVIM, DipECVIM, MRCVS. Here’s what she told us:
1. Based on their medical records, 1,017 cats have thus far been identified as being candidates for having their blood samples* analyzed for the presence of DNA that may provide insights into kidney disease and hypertension in older cats. The preserved samples will be inspected for viability, and prepared for the DNA extraction process.
2. Cats who have developed signs of confounding diseases since having their samples frozen, particularly those with hyperthyroidism **, will have their samples excluded from the study.
3. Extraction of DNA from qualifying samples has also begun; that process is expected to continue through the end of 2015.
4. Once DNA has been successfully extracted, the doctors and statisticians can start performing the rigorous analysis required to try to locate genes associated with Feline Chronic Kidney Disease and hypertension.
It's an exciting time, and this is just the beginning--there is still much work to be done in our quest for better treatments and a cure for Feline Chronic Kidney Disease. We look forward to keeping you posted; thank you so very much for being part of the progress.
* We will not fund any research that causes harm to animals. The DNA that will be studied is derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats' human family members.
** As per Dr. Jepson: “Hyperthyroidism (overactive thyroid gland) is a common condition in the older feline population. One of the main impacts of increased thyroid hormone levels can be an increase in glomerular filtration rate (renal function). This means that true renal function cannot be assessed in cats that are untreated for their hyperthyroidism. In order to appropriately assess renal function, hyperthyroidism at recruitment of cats for this study must therefore be excluded.”
Dear Friends,
As you know, we granted $20,000.00 to the Royal Veterinary College, London, in support of their groundbreaking study, “Unravelling the Genetic Basis of Blood Pressure and Kidney Function In the Cat”. Research is a slow process and, like so many things worth doing, it requires patience and persistence. Although the study is still at a very early stage, we thought you’d like to hear what’s happening. We received our first Progress Report from the Principal Investigator on the study, Dr. Rosanne Jepson, BVSc (Dist), MVetMed, PhD, DipACVIM, DipECVIM, MRCVS. Here’s what she told us:
1. Based on their medical records, 1,017 cats have thus far been identified as being candidates for having their blood samples* analyzed for the presence of DNA that may provide insights into kidney disease and hypertension in older cats. The preserved samples will be inspected for viability, and prepared for the DNA extraction process.
2. Cats who have developed signs of confounding diseases since having their samples frozen, particularly those with hyperthyroidism **, will have their samples excluded from the study.
3. Extraction of DNA from qualifying samples has also begun; that process is expected to continue through the end of 2015.
4. Once DNA has been successfully extracted, the doctors and statisticians can start performing the rigorous analysis required to try to locate genes associated with Feline Chronic Kidney Disease and hypertension.
It's an exciting time, and this is just the beginning--there is still much work to be done in our quest for better treatments and a cure for Feline Chronic Kidney Disease. We look forward to keeping you posted; thank you so very much for being part of the progress.
* We will not fund any research that causes harm to animals. The DNA that will be studied is derived from routine blood samples provided by companion cats during the course of their regularly scheduled veterinary visits. The samples, after being used for the necessary diagnostic purposes, were preserved for use in this study with the consent of the cats' human family members.
** As per Dr. Jepson: “Hyperthyroidism (overactive thyroid gland) is a common condition in the older feline population. One of the main impacts of increased thyroid hormone levels can be an increase in glomerular filtration rate (renal function). This means that true renal function cannot be assessed in cats that are untreated for their hyperthyroidism. In order to appropriately assess renal function, hyperthyroidism at recruitment of cats for this study must therefore be excluded.”
***************
There is so much work to be done in our quest for a cure. Will YOU please be part of the progress?
We care passionately about animal welfare issues, and about feline kidney disease in particular, but please understand that we are not veterinarians, and are not qualified to provide veterinary medical advice. If you have a companion animal suffering from kidney disease it is imperative that you consult with a licensed veterinarian, who is qualified to provide you with medical advice and care that meets your animal’s particular health needs.
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