Inherited Genetic Diseases
It is important to have an insight into, and some knowledge about inherited genetic diseases, especially if one is planning to have a baby. Having sufficient knowledge can be of help in preventing the baby from acquiring such a disease.
Most birth related defects are usually inherited genetic diseases. This is normally a condition which leads to abnormalities in the structure and function of the baby right from birth. Often, these types of defects are genetic in nature, and are passed to the baby from the parents. However, some isolated cases may not be hereditary, and could be due to environmental hazards or external effects, exposed to the mother at pregnancy.
There are thousands of known inherited genetic diseases. Genetic diseases are varied in intensity and types. These may include physical conditions or defects, or delays in normal development of the child. Some inherited genetic diseases may be deadly. Sadly, all inherited genetic diseases cause a lot of physical and emotional pain both to the patient and to the parents.
Inherited genetic diseases can be passed down through various ways. They can be transmitted from the father, the mother or even both parents. In case where both parents have defaults in their genes, the defects are often inherited by the baby. On the other hand, where only one parent has a genetic defect, it is also possible for the defect to be passed on to the child. The other case is where the mother specifically passes on a genetic condition to the male offspring. This is a defect that affects only the X-chromosome. The baby is likely to have an inherited genetic disease if the X-chromosome of the mother is faulty.
Among the several common inherited genetic diseases include muscular diseases, usually inherited from the mother, and central nervous system defects - which may cause blindness, dementia and seizures. This is a dangerous and possibly fatal inherited genetic condition, especially if both parents have it. The other common condition is sickle cell anaemia, which is a disorder of the red blood cells. It can cause pain, fatigue and other health complications. The likelihood of the child inheriting this condition is higher if both parents carry the gene.
A basic precaution for parents to safeguard their unborn babies from acquiring inherited genetic diseases would be to maintain a healthy lifestyle and diet, especially for the mother throughout her pregnancy.
Showing posts with label Genetic Disorder. Show all posts
Showing posts with label Genetic Disorder. 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.
Genetic Disorder Disease
Genetic Disorder Disease
Faulty genes or chromosomes are subjected to genetic disorder. There are a number of genetic disorders in human beings. Some diseases are very common, whereas few are rare. The causes of these diseases may be different. The scientists are pursuing for the solution with a single-minded devotion. Fortunately, much research has been done, yet thorough research is needful. Genetic Diseases are known as hereditary diseases that are caused by abnormalities in genes. Gene abnormal extension, deletion of genes, chromosomal aberrations, and mutation of genes are the mains causes of genetic disorders. In the human being, dominant genetic traits are expressive while recessive traits are latent.
Autosomal Dominant - These disorders are caused due to a single defective gene from one of the parents. This mutated gene comes from an autosome. They are also called as monogenic inheritance or Mendelian inheritance diseases. Some examples of autosomal dominant genetic diseases are achondroplasia, Marfan syndrome, hemochromatosis, Huntington's disease, etc.
Autosomal Recessive - Such inheritance pattern is marked due to two mutated alleles of the same gene and each mutated gene is called as a carrier. Some examples of autosomal recessive genetic disorders are achromatopsia, sickle-cell anemia, cystic fibrosis, acid-maltase deficiency.
Y-linked Genetic Diseases - Mutations in the genes on Y chromosomes can lead to Y-linked genetic disorders. They are also known as holandric inheritance. The Y chromosome cannot carry many genes as it is small. The Y-linked disorders are not so common due to the linkage of the small amount of genetic traits with Y chromosome. Only males suffer from this condition. These disorders are inherited from the father to the son. Male infertility is one of the examples of Y-linked genetic diseases.
X-linked Genetic Diseases - Genetic mutations on x-chromosome lead to the X-linked genetic disorders. In case of the father is suffering from the dominant X-linked disorder, there are least chances of suffering his sons from the same disease, while all his daughters are inherited the disorder. The examples of x-linked diseases are Rett's syndrome and Aicardi syndrome. If the male is suffering from the recessive X-linked, there are no chances of suffering his sons from that disorder, while his daughters will carry a single mutated gene. If the mother is suffering from the dominant X-linked or recessive x-linked disorder, then her offspring will surely suffer from that disorder. Color blindness and hemophilia are the common examples of X-linked recessive disorders.
Multifactorial Inheritance - It is also called as polygenetic inheritance. This is caused due to mutations in multiple genes. Environmental factors are also responsible for multifactorial inheritance disorders. Some examples are heart diseases, cancer, obesity, arthritis, diabetes, etc. In a nutshell, the genetic disorders are unavoidable and incurable. Hopefully, the further ongoing research like genetic engineering would sort out this riddle sooner or later.
Faulty genes or chromosomes are subjected to genetic disorder. There are a number of genetic disorders in human beings. Some diseases are very common, whereas few are rare. The causes of these diseases may be different. The scientists are pursuing for the solution with a single-minded devotion. Fortunately, much research has been done, yet thorough research is needful. Genetic Diseases are known as hereditary diseases that are caused by abnormalities in genes. Gene abnormal extension, deletion of genes, chromosomal aberrations, and mutation of genes are the mains causes of genetic disorders. In the human being, dominant genetic traits are expressive while recessive traits are latent.
Autosomal Dominant - These disorders are caused due to a single defective gene from one of the parents. This mutated gene comes from an autosome. They are also called as monogenic inheritance or Mendelian inheritance diseases. Some examples of autosomal dominant genetic diseases are achondroplasia, Marfan syndrome, hemochromatosis, Huntington's disease, etc.
Autosomal Recessive - Such inheritance pattern is marked due to two mutated alleles of the same gene and each mutated gene is called as a carrier. Some examples of autosomal recessive genetic disorders are achromatopsia, sickle-cell anemia, cystic fibrosis, acid-maltase deficiency.
Y-linked Genetic Diseases - Mutations in the genes on Y chromosomes can lead to Y-linked genetic disorders. They are also known as holandric inheritance. The Y chromosome cannot carry many genes as it is small. The Y-linked disorders are not so common due to the linkage of the small amount of genetic traits with Y chromosome. Only males suffer from this condition. These disorders are inherited from the father to the son. Male infertility is one of the examples of Y-linked genetic diseases.
X-linked Genetic Diseases - Genetic mutations on x-chromosome lead to the X-linked genetic disorders. In case of the father is suffering from the dominant X-linked disorder, there are least chances of suffering his sons from the same disease, while all his daughters are inherited the disorder. The examples of x-linked diseases are Rett's syndrome and Aicardi syndrome. If the male is suffering from the recessive X-linked, there are no chances of suffering his sons from that disorder, while his daughters will carry a single mutated gene. If the mother is suffering from the dominant X-linked or recessive x-linked disorder, then her offspring will surely suffer from that disorder. Color blindness and hemophilia are the common examples of X-linked recessive disorders.
Multifactorial Inheritance - It is also called as polygenetic inheritance. This is caused due to mutations in multiple genes. Environmental factors are also responsible for multifactorial inheritance disorders. Some examples are heart diseases, cancer, obesity, arthritis, diabetes, etc. In a nutshell, the genetic disorders are unavoidable and incurable. Hopefully, the further ongoing research like genetic engineering would sort out this riddle sooner or later.
A Genetic Disease
A Genetic Disease
A genetic disease refers to any disease that is caused by an unusual status in a particular person's genome. The disorder or abnormality in the genome may be minor or major depending on the amount of mutations in a single DNA base. There are several types of genetically inherited problems and each has its different features. Some of the main types of genetic inheritance are discussed here bellow.
Single gene inheritance
This kind of inheritance results from mutations that take place within the DNA sequence of one gene. This type of gene is more predictable as it always follows a particular trend and its destiny is therefore easy to predict. It is responsible for disorders such as sickle cell anemia, Huntington's disease and Marfan syndrome among other conditions.
Multifactorial inheritance
Commonly referred to as complex inheritance, this type of inheritance is usually caused by multiple environmental conditions which may mutate in various genes within a cell. These kind of inheritable genes are responsible for most chronic disorders such as high blood pressure, diabetes, arthritis among others. It has been established that this types of genes are also responsible for the similarities evident in identical personal traits such as fingerprint patterns, height, and eye and skin color among other similarities that are passed on from parent to child.
Genetic diseases and the human genome
It would be absolutely impossible to talk about the relationship between genetics and disease without considering the role played by the human genome or its influence on the diseases that are gene related. When you talk about any hereditary factor between two human beings, the most important feature that comes to mind is the human genome which is the bank of all inheritable traits in the human body and mind. A person's genes play a major role in the way a person's body reacts to environmental factors such as allergies and other specific preferences. It is out of this reason that most members of a particular family may suffer from similar diseases especially if the diseases are genetic in nature.
Illnesses such as diabetes can have their roots in a certain family affecting almost all family members and without the support of this type of information; it might seem quite intriguing that all members of a family should suffer the same disease. The answer lies in the relationship between the disease and the genes that have been inherited from the family lineage.
A genetic disease refers to any disease that is caused by an unusual status in a particular person's genome. The disorder or abnormality in the genome may be minor or major depending on the amount of mutations in a single DNA base. There are several types of genetically inherited problems and each has its different features. Some of the main types of genetic inheritance are discussed here bellow.
Single gene inheritance
This kind of inheritance results from mutations that take place within the DNA sequence of one gene. This type of gene is more predictable as it always follows a particular trend and its destiny is therefore easy to predict. It is responsible for disorders such as sickle cell anemia, Huntington's disease and Marfan syndrome among other conditions.
Multifactorial inheritance
Commonly referred to as complex inheritance, this type of inheritance is usually caused by multiple environmental conditions which may mutate in various genes within a cell. These kind of inheritable genes are responsible for most chronic disorders such as high blood pressure, diabetes, arthritis among others. It has been established that this types of genes are also responsible for the similarities evident in identical personal traits such as fingerprint patterns, height, and eye and skin color among other similarities that are passed on from parent to child.
Genetic diseases and the human genome
It would be absolutely impossible to talk about the relationship between genetics and disease without considering the role played by the human genome or its influence on the diseases that are gene related. When you talk about any hereditary factor between two human beings, the most important feature that comes to mind is the human genome which is the bank of all inheritable traits in the human body and mind. A person's genes play a major role in the way a person's body reacts to environmental factors such as allergies and other specific preferences. It is out of this reason that most members of a particular family may suffer from similar diseases especially if the diseases are genetic in nature.
Illnesses such as diabetes can have their roots in a certain family affecting almost all family members and without the support of this type of information; it might seem quite intriguing that all members of a family should suffer the same disease. The answer lies in the relationship between the disease and the genes that have been inherited from the family lineage.
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