Jewish Genetic Diseases
Today, more than 4000 genetic diseases are known to affect humankind in a very negative way. The mystery of genetic diseases seems to wane as more and more people get to understand the basics of genetics better. The facts that people are continuing to get are proving to be very helpful by the day. The greatest mystery surrounding genetic diseases is the fact that they affect people of a particular family, ethnic group, race or demographic group. Against this backdrop, one can easily note that some diseases occur almost exclusively among the Jewish people.
Most genetic diseases that affect the Jewish people are incapacitating. A few of them have mild consequences on the patients' physical abilities. Tay-Sachs is the most commonly occurring genetic disease among the members of the Jewish community. This disease has mild negative effects, unlike many others, which are responsible for wiping out many Jewish families.
People who suffer from Jewish genetic diseases need to be taken care of in a very special way. Beta Thalassemia is a disease that is genetically transmitted among many Jews. This inherited disorder is also referred to as Cooley's anemia. Patients with this disease go through mutation of beta hemoglobin chain. No man can do anything in order to prevent this genetically triggered change from occurring.
Immediately after birth, a baby with Beta Thalassemia does no show any symptoms. This is because fetal hemoglobin is still the dominant element in the baby's blood. In a matter of months, everything changes and the symptoms come out. The condition starts worsening. Children develop anemia that is life threatening.
Bloom's Syndrome is a genetic disease that is also very common among Jews. It is transmitted through a recessive gene. In this case, both parents should be carriers of the recessive gene in order for the disease to be passed on to future generations. All victims of this disease have a very short stature and a very high-pitched voice. They are also highly susceptible to respiratory illnesses. People with Bloom's syndrome also tend to be mentally retarded.
The Bloom's Syndrome can be tested through chromosome analysis. Once this has been done, the diagnosis process can be said to be complete. In order for carrier testing to be done, a sample of a person's blood is needed. The test will ascertain whether any gene changes have occurred. This disease is very common among the Ashkenazi Jews.
Showing posts with label genetic. Show all posts
Showing posts with label genetic. Show all posts
Tuesday, June 24, 2014
Human Genetic Diseases
Human Genetic Diseases
The main reason why genetic diseases are a cause of worry for many people is the fact that man can do little to prevent them from occurring. Genetic diseases occur because of chromosome problems. Some genetic diseases are extremely rare while others occur more often.
Some genetic diseases relate to one's reproductive health. Recent research has also shown that some genetic diseases are gender-driven, that is, they affect members of one gender only. A case in point is color blindness, which is known to affect male members of a community only.
Researchers have devised several ways of drawing ethnic, racial and demographic lines when researching on human genetic diseases. When researching the Alzheimer's disease, scientists had to rely on a previous finding, which showed that very few cases of the disease are reported among the Caucasian people.
The Alzheimer's disease can bring rather catastrophic effects to both the patients and loved ones. It affects the brain and makes the patient lose memory and psychomotor coordination. The patient loses complete control of all his bodily functions. One does not even remember to eat. If food is put into his mouth, he does not know when to chew and when to swallow. Such patients require special care, often in a nursing home. Majority of people who are affected are over sixty years.
DNA tests are always helpful in determining if any member of the family is a carrier of a dominant gene. Some genetic diseases are caused by dominant genes. In some cases, recessive genes also cause genetic disorders. In families where the genetic disorders are caused by a dominant gene, if the parent has the disease, the sibling has a 50% likelihood of suffering from the same disease at some point in life.
The process of diagnosing genetic disorder is very complicated. As if that is not enough, one has to take care of the patient both financially and psychologically. This might drain a family's financial resources. It can also make one marriage partner feel emotionally detached. Help from third parties would be very much appreciated.
Many support groups for people who suffer from genetic disorders have been set up across the country. A person who suffers from a genetic condition can reap many benefits by becoming a member of such a group. One can get to know how to pursue treatment. One can get to regain a feeling of belonging after depressive moments especially immediately after diagnosis.
The main reason why genetic diseases are a cause of worry for many people is the fact that man can do little to prevent them from occurring. Genetic diseases occur because of chromosome problems. Some genetic diseases are extremely rare while others occur more often.
Some genetic diseases relate to one's reproductive health. Recent research has also shown that some genetic diseases are gender-driven, that is, they affect members of one gender only. A case in point is color blindness, which is known to affect male members of a community only.
Researchers have devised several ways of drawing ethnic, racial and demographic lines when researching on human genetic diseases. When researching the Alzheimer's disease, scientists had to rely on a previous finding, which showed that very few cases of the disease are reported among the Caucasian people.
The Alzheimer's disease can bring rather catastrophic effects to both the patients and loved ones. It affects the brain and makes the patient lose memory and psychomotor coordination. The patient loses complete control of all his bodily functions. One does not even remember to eat. If food is put into his mouth, he does not know when to chew and when to swallow. Such patients require special care, often in a nursing home. Majority of people who are affected are over sixty years.
DNA tests are always helpful in determining if any member of the family is a carrier of a dominant gene. Some genetic diseases are caused by dominant genes. In some cases, recessive genes also cause genetic disorders. In families where the genetic disorders are caused by a dominant gene, if the parent has the disease, the sibling has a 50% likelihood of suffering from the same disease at some point in life.
The process of diagnosing genetic disorder is very complicated. As if that is not enough, one has to take care of the patient both financially and psychologically. This might drain a family's financial resources. It can also make one marriage partner feel emotionally detached. Help from third parties would be very much appreciated.
Many support groups for people who suffer from genetic disorders have been set up across the country. A person who suffers from a genetic condition can reap many benefits by becoming a member of such a group. One can get to know how to pursue treatment. One can get to regain a feeling of belonging after depressive moments especially immediately after diagnosis.
Monday, June 23, 2014
Genetic Testing Disease
Genetic Testing Disease
Genetic testing of a disease is a method of screening the person for possibility of inheritance factors that may point to the fact that an individual is likely to suffer from a disease that may have infected other members of the family. Naturally each and every individual inherits two different genes from each of the parents. In the process of inheriting these genes, a new born may as well inherit some of the hereditary complications that may have been prevalent in any of the parents' lineage. In normal circumstances, a person is screened for the presence of mutant genes which are capable of mutating and developing into the potential disease coursing pathogens.
There are different types of genetic testing that are used to determine different conditions in any individual. Some of the main types of genetic testing are; Newborn screening, diagnostic testing, carrier testing, pre-implantation genetic diagnosis and predictive and pre-symptomatic testing. In order to get a clear understanding of the above types of genetic tests, lets have a step by step definition of each an its significance in our lives.
Newborn screening
Newborn screening is a genetic type of test carried out to verify any early traces of gene related complications that may cause health disorders in future. There are certain genetic disorders such as phenylketonuria which if left unattended to results in mental disorders in the victim. This screening has become one of the most common genetic tests carried out especially in the U.S.
Diagnostic testing
This type of genetic screening is used more often in cases where a known genetic disorder has been proved to be present in one of the parents. It is usually carried out with the sole objective of identifying and taking preventive action towards the suspected gene should it be verified to be a potential risk. As much as the genetic disorders may not all be treatable, knowing their existence helps a great deal in helping the individual in managing any problems that may occur as a result of the genetic condition.
Carrier testing
Carrier testing is simply used to identify persons who carry a particular form of mutating gene that could easily result in the occurrence of genetic diseases if coupled with a complementary gene. This testing can go a long way in helping to match couples who have potential risks of producing off springs who may be affected by their genetic condition.
Pre-implantation genetic diagnosis
Knowing the unborn child's genetic status is of great importance in making important decisions that may save the unborn baby's future possibility of developing genetic based complications. As technological improvements in in-vitro fertilization continue to take effect, the importance of pre-implantation genetic diagnosis cannot be taken for granted. Knowing the possibility of the matched embryos is important if the resulting fetus is to be free of most genetic based complications.
Genetic testing of a disease is a method of screening the person for possibility of inheritance factors that may point to the fact that an individual is likely to suffer from a disease that may have infected other members of the family. Naturally each and every individual inherits two different genes from each of the parents. In the process of inheriting these genes, a new born may as well inherit some of the hereditary complications that may have been prevalent in any of the parents' lineage. In normal circumstances, a person is screened for the presence of mutant genes which are capable of mutating and developing into the potential disease coursing pathogens.
There are different types of genetic testing that are used to determine different conditions in any individual. Some of the main types of genetic testing are; Newborn screening, diagnostic testing, carrier testing, pre-implantation genetic diagnosis and predictive and pre-symptomatic testing. In order to get a clear understanding of the above types of genetic tests, lets have a step by step definition of each an its significance in our lives.
Newborn screening
Newborn screening is a genetic type of test carried out to verify any early traces of gene related complications that may cause health disorders in future. There are certain genetic disorders such as phenylketonuria which if left unattended to results in mental disorders in the victim. This screening has become one of the most common genetic tests carried out especially in the U.S.
Diagnostic testing
This type of genetic screening is used more often in cases where a known genetic disorder has been proved to be present in one of the parents. It is usually carried out with the sole objective of identifying and taking preventive action towards the suspected gene should it be verified to be a potential risk. As much as the genetic disorders may not all be treatable, knowing their existence helps a great deal in helping the individual in managing any problems that may occur as a result of the genetic condition.
Carrier testing
Carrier testing is simply used to identify persons who carry a particular form of mutating gene that could easily result in the occurrence of genetic diseases if coupled with a complementary gene. This testing can go a long way in helping to match couples who have potential risks of producing off springs who may be affected by their genetic condition.
Pre-implantation genetic diagnosis
Knowing the unborn child's genetic status is of great importance in making important decisions that may save the unborn baby's future possibility of developing genetic based complications. As technological improvements in in-vitro fertilization continue to take effect, the importance of pre-implantation genetic diagnosis cannot be taken for granted. Knowing the possibility of the matched embryos is important if the resulting fetus is to be free of most genetic based complications.
Genetics And Disease
Genetics And Disease
The relationship between genetics and disease has been proven to be too close even in the case of diseases which are not directly hereditary. It has been verified that the genetic composition of an individual influences their susceptibility to infections. Incase a patient is already infected; their ability to heal is also determined greatly by their genetics. Genetic disorders are mainly classified into two main categories. These are Mendelian and complex genetic disorders. Mendelian disorders are predictable genetic based complications which have predictable development patterns such as sickle-cell disease among others. A patient with these mutative genes only needs a causative gene to develop the full genetic based disorder
Contrary to Mendelian genetic disorders, complex genetic disorders are much difficult to predict. This is because they do not develop in a definite pattern that can help doctors in projecting the potential risks and when or how they are likely to grow into their full potential. Complex genetic disorders are responsible for conditions such as are witnessed in cardiovascular diseases, diabetes and psychiatric disorders. Most cancers are also caused by these types of genes. As much as the genetics play a role in the development of these diseases, it is not directly linked to the development of the disease. Other factors such as the environment and other exposures influence the growth of the disease.
What relationships exist between diseases and genes?
Other than Mendelian genetic disorders which have direct influence on the disease, telling the direct link between genetics and the disease in terms of complex genetic disorders can be too costly and complicated. This factor has made many people to rely on symptoms to diagnose the disease as opposed to using genetics to fore tell. Before doctors can embark on the search of a specific gene supposedly influencing the development of a disease, they must employ the use of several methods that can help in establishing the possibility of the person developing the disease. Familial aggregation is one method that can be used to evaluate this. This method relies on family history in relation to the disease. If several family members show traces of the gene and subsequent development of the related disease, then the chances of the said family member also taking the same route are high. It is from this point that the doctors should proceed in search of the exact gene responsible for the disease.
It is quite clear that although the genes play an important role in determining the trend and development of a disease and even in some cases, the severity of the disease. The main reasons that trigger the onset of the disease may however be more linked to environmental situations or exposure to infections in cases such as tuberculosis and other cancers.
The relationship between genetics and disease has been proven to be too close even in the case of diseases which are not directly hereditary. It has been verified that the genetic composition of an individual influences their susceptibility to infections. Incase a patient is already infected; their ability to heal is also determined greatly by their genetics. Genetic disorders are mainly classified into two main categories. These are Mendelian and complex genetic disorders. Mendelian disorders are predictable genetic based complications which have predictable development patterns such as sickle-cell disease among others. A patient with these mutative genes only needs a causative gene to develop the full genetic based disorder
Contrary to Mendelian genetic disorders, complex genetic disorders are much difficult to predict. This is because they do not develop in a definite pattern that can help doctors in projecting the potential risks and when or how they are likely to grow into their full potential. Complex genetic disorders are responsible for conditions such as are witnessed in cardiovascular diseases, diabetes and psychiatric disorders. Most cancers are also caused by these types of genes. As much as the genetics play a role in the development of these diseases, it is not directly linked to the development of the disease. Other factors such as the environment and other exposures influence the growth of the disease.
What relationships exist between diseases and genes?
Other than Mendelian genetic disorders which have direct influence on the disease, telling the direct link between genetics and the disease in terms of complex genetic disorders can be too costly and complicated. This factor has made many people to rely on symptoms to diagnose the disease as opposed to using genetics to fore tell. Before doctors can embark on the search of a specific gene supposedly influencing the development of a disease, they must employ the use of several methods that can help in establishing the possibility of the person developing the disease. Familial aggregation is one method that can be used to evaluate this. This method relies on family history in relation to the disease. If several family members show traces of the gene and subsequent development of the related disease, then the chances of the said family member also taking the same route are high. It is from this point that the doctors should proceed in search of the exact gene responsible for the disease.
It is quite clear that although the genes play an important role in determining the trend and development of a disease and even in some cases, the severity of the disease. The main reasons that trigger the onset of the disease may however be more linked to environmental situations or exposure to infections in cases such as tuberculosis and other cancers.
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