Medical Research
Medical research has been an ambiguous topic to many over the years. We know theres research being done on everything and anything... but what aspects of a disease are priorities? How much information is assumed? What's the point of research?
Cri du Chat syndrome has been around for centuries. From the beginning of humanity, cases of Cri du Chat have been thought to be around. However, there was no proof or diagnosis thousands of years ago, as no one really understood what was going on. Most genetic disorders (or any bodily abnormality for that matter) were blamed on demons, or religious consequences.
The first diagnosed case of Cri du Chat syndrome was made by Jerome Lejeune in 1963 when he realized that he had multiple patients with the same cat-cry symptom.
Today, we have made great accomplishments in science, and continue to broaden our understanding of the human body. Medical research has been done, and is still being done, by observing patients with Cri du Chat, genetic screening tests, and comparing the genotype of a patient with that of a healthy human being.
To date, medical researchers have discovered the exact location of abnormality causing the Cri du Chat syndrome (5p chromosome), as well as the function for this chromosome, the fact that it is caused by recessive genes, the probability of inheriting the disease from family vs being a ''de novo' case, the chances of passing it on to offspring, and so much more!
One test performed was the 'Mayo Clinic FISH test' where FISH stands for "Fluorescence In Situ Hybridization'. In this test, scientists took samples of amniotic fluid from various fetus sacs and compared them. They found that 6 had a deletion in chromosome 5p, and later found that those 6 children suffered from Cri du Chat. Although not enough information is given, it is assumed that scientists knew the parents had the recessive gene, as 6 cases of Cri du Chat in one test is abnormally high. Test subjects without chromosome deletion had no odd symptoms. Test subjects with chromosome 5 abnormalities that were NOT deletions, experienced some odd symptoms, but none of which involved a cat-like cry.
This test was not FDA approved and therefore it is unknown is it is accurate. However, it is NY State approved, and seem to have results that make sense. (Mayo Clinic, n.d)
There is a lot more research to be done. Researchers have yet to answer many questions and find the reasoning behind the cat-like cry. It is suspected that the gene location for the cat-like cry, is in a separate area than the gene location for the other symptoms of the disorder. Another question that arises, is how the different patients specific genotypes affect their phenotypes. They would like to know how they could all have similar facial and bodily traits due to a microscopic deletion of part of one chromosome.
Researchers are also aiming for more specific therapy strategies to better the life of a Cri du Chat patient.
Science has proven to pose questions as it answers them, but we are confident that we will learn more about Cri du Chat syndrome as the years go by. In the future, medical advances may lead to better understood patients, who will be better attended to. For example, with the right research, we could find ways to communicate with Cri du Chat patients in a more efficient, and less stressful manner.
Also, maybe one day there will be a medication to cure Cri du Chat syndrome. Perhaps an injection, pill, or even surgical procedure that could recover the deleted part of chromosome number 5.
Who knows, maybe one day we will not be able to recognize a Cri du Chat patient versus any other healthy individual. The possibilities are endless.
Cri du Chat syndrome has been around for centuries. From the beginning of humanity, cases of Cri du Chat have been thought to be around. However, there was no proof or diagnosis thousands of years ago, as no one really understood what was going on. Most genetic disorders (or any bodily abnormality for that matter) were blamed on demons, or religious consequences.
The first diagnosed case of Cri du Chat syndrome was made by Jerome Lejeune in 1963 when he realized that he had multiple patients with the same cat-cry symptom.
Today, we have made great accomplishments in science, and continue to broaden our understanding of the human body. Medical research has been done, and is still being done, by observing patients with Cri du Chat, genetic screening tests, and comparing the genotype of a patient with that of a healthy human being.
To date, medical researchers have discovered the exact location of abnormality causing the Cri du Chat syndrome (5p chromosome), as well as the function for this chromosome, the fact that it is caused by recessive genes, the probability of inheriting the disease from family vs being a ''de novo' case, the chances of passing it on to offspring, and so much more!
One test performed was the 'Mayo Clinic FISH test' where FISH stands for "Fluorescence In Situ Hybridization'. In this test, scientists took samples of amniotic fluid from various fetus sacs and compared them. They found that 6 had a deletion in chromosome 5p, and later found that those 6 children suffered from Cri du Chat. Although not enough information is given, it is assumed that scientists knew the parents had the recessive gene, as 6 cases of Cri du Chat in one test is abnormally high. Test subjects without chromosome deletion had no odd symptoms. Test subjects with chromosome 5 abnormalities that were NOT deletions, experienced some odd symptoms, but none of which involved a cat-like cry.
This test was not FDA approved and therefore it is unknown is it is accurate. However, it is NY State approved, and seem to have results that make sense. (Mayo Clinic, n.d)
There is a lot more research to be done. Researchers have yet to answer many questions and find the reasoning behind the cat-like cry. It is suspected that the gene location for the cat-like cry, is in a separate area than the gene location for the other symptoms of the disorder. Another question that arises, is how the different patients specific genotypes affect their phenotypes. They would like to know how they could all have similar facial and bodily traits due to a microscopic deletion of part of one chromosome.
Researchers are also aiming for more specific therapy strategies to better the life of a Cri du Chat patient.
Science has proven to pose questions as it answers them, but we are confident that we will learn more about Cri du Chat syndrome as the years go by. In the future, medical advances may lead to better understood patients, who will be better attended to. For example, with the right research, we could find ways to communicate with Cri du Chat patients in a more efficient, and less stressful manner.
Also, maybe one day there will be a medication to cure Cri du Chat syndrome. Perhaps an injection, pill, or even surgical procedure that could recover the deleted part of chromosome number 5.
Who knows, maybe one day we will not be able to recognize a Cri du Chat patient versus any other healthy individual. The possibilities are endless.