The Hereditary Disease Foundation (hdf)
The main aim of the Hereditary Disease Foundation (HDF) is to cure genetic illnesses through supporting research in biomedical. Dr. MILTON WEXKLER started this foundation when his wife was diagnosed with Huntington's disease. In solving the mysteries of genetic disease and as well develop new cures, the foundation uses a variety of strategies, workshops and as well grants, fellow ships and basically targeted contracts in research. In essence, it focuses on Huntington's disease which is a fatal autosoamal-dominant neuroligal illness that causes it.
There are many things that come along with Huntington's disease. Apart form the fact that the patient can experience its fatality in the form of severe emotional disturbance and involuntary movements, each child of an affected parent bares a 50% risk of inheriting the disease. It is believed that this disease is in its third or fourth year of life but a child as young as two years or even eighty year old adults may as well develop the symptoms.
The Hereditary Disease Foundation (HDF) does its hereditary disease research using the Huntington's disease as a model. This is basically due to the fact that it is triggered by a single gene mutation. What could be however instrumental in finding ways to treat other more genetic illnesses like Parkinson's, Alzheimer's among others, will be the progress towards treatment of the Huntington's disease?
So far $50million has been given to support pioneering research and genetics, therapy in gene, molecular and cell biology, survival and death of the cells, models of animals, neurophysiology, neutophamagology, among other areas that are relevant to understating the disease inheritance. This money has been given by the foundation.
Sponsored workshops held many times a year are among the centerpiece of the foundation. The program was started by Milton Wexler which was aimed at bringing scientists together form different academic disciplines to brainstorm. This was usually done in the absence of prepared lectures or slides but all the same they were entitled to explore new research directions.
The Hereditary Disease Foundation (HD) offered numerous funding opportunities which included;
* The basic results grant programs
* The John J.Wasmuth postdoctoral fellowships
* The Lieberman award
* And as well the Milton Wexler postdoctoral fellowship awards.
In addition, donations are always accepted by check and credit cards. For other information, you can consult the Hereditary Disease Foundation (HDF). It always believes that no other organization comes close as its integrity is exemplary
Showing posts with label Genetic Disease. Show all posts
Showing posts with label Genetic Disease. Show all posts
Tuesday, June 24, 2014
Monday, June 23, 2014
Genetic Disease List
Genetic Disease List
Mutation, deletion, aberrations, unusual extension of genes causes genetic diseases. As medical scientists still do not know of ways to stop genetic disorders prior to birth, many children are born with genetic disorders.
Angelman Syndrome is one of rare genetic diseases. In 1965 Dr. Angelman first described the details of this neuro-genetic disorder, in which growth delaying, difficulty in speaking, sleeping disorders and mood swings are common symptoms.
Canavan disease genetically destructs the brain cells. It belongs to the genetic disease category called leukodystrophies. Its main characteristic is the degeneration of myelin, which is the protecting layer of nerve fibers of the body.
Celiac disease affects the autoimmune system damaging the small bowel. From infancy to any age group, this disease can be harmful. The main symptoms are fatigue and diarrhoea. Those who suffer from Celiac disease have difficulties in nutrient absorption abilities. An effective treatment for Celiac disease is a gluten-free diet.
Charcot-Marie-Tooth disease is a heterogeneous genetic disorder of nerves which is defined by touch sensation and loss of muscle tissue, especially in the legs and feet, but in the arms and hands as well in the advanced phases of disease.
Color blindness, or deficiency to perceive colors can be of a genetic nature, but can as well appear because of brain, eye, or nerve damage, or because of contact with some chemicals products. In 1798, the English chemist John Dalton studied this aspect for the first time. It is sometimes called daltonism after him.
Cri du Chat syndrome is a rare genetic disorder which affects approximately 1 in 20,000 to 50,000 live births. The disease does not depend on ethnic backgrounds, but is most common in the case of women.
The disorder gets its name from the typical cry of babies born with this syndrome. The baby sounds like a kitten, because of problems with the nervous system and larynx. The good news is that about 1/3 of infants recover by the age of 2. Negative aspects of this disease may be:
1. Feeding problems because they can't suck and swallow well
2. Low weight at birth and poor evolution,
3. Motor, cognitive, and speech delays,
4. Behavioral problems such as aggression, hyperactivity, and repetitive movements,
5. Uncommon facial traits that can change in time.
Cystic fibrosis is an inherited disorder which can affect the entire body, leading to gradual disability and death.
The most common symptoms are difficulty breathing and not enough enzyme production in the pancreas. Low immune system and dense mucous production lead to frequent lung infections that are treated, but not always cured, sometimes by intravenous and oral antibiotics. Many other symptoms, like sinus infections, poor evolution, and diarrhea can be effects of this disorder. Sometimes, recurrent lung infections during infancy or childhood may be a sign of cystic fibrosis.
Down syndrome is a hereditary disorder which features problems related to cognitive ability, physical evolution, and facial traits. It is called after John Langdon Down, the doctor who described it in 1866, in Britain.
Duchenne muscular dystrophy is a mortal disorder which is defined by rapidly gradual muscle weakness and damaged muscular tissue beginning in the pelvis and legs and then affecting the entire system.
Hemophilia is the name of some genetic disorders which mean the body's inability to control bleeding. The bleeding might be exterior, if the skin is broken by a cut, scrape, or abrasion, or it can be interior, into joints, muscles, or organs which are hollow. The result can be visible on the skin or subtle (e.g., brain bleeding).
Klinefelter syndrome has in main effect abnormal testicular evolution and decreased fertility.
Neurofibromatosis includes a more different genetic disorder which makes tumors develop along different nerves, besides, may influence the evolution of tissues which are not nervous, like skin and bones. The tumors may develop anywhere in or on the body.
The list may continue with other genetic disorders like: Phenylketonuria, Prader-Willi syndrome, Sickle-cell disease, Spina bifida, Tay-Sachs disease or Turner syndrome.
Unfortunately the list does not finish here and researchers in the domain of medicine must work a lot harder in order to discover remedies for them.
Mutation, deletion, aberrations, unusual extension of genes causes genetic diseases. As medical scientists still do not know of ways to stop genetic disorders prior to birth, many children are born with genetic disorders.
Angelman Syndrome is one of rare genetic diseases. In 1965 Dr. Angelman first described the details of this neuro-genetic disorder, in which growth delaying, difficulty in speaking, sleeping disorders and mood swings are common symptoms.
Canavan disease genetically destructs the brain cells. It belongs to the genetic disease category called leukodystrophies. Its main characteristic is the degeneration of myelin, which is the protecting layer of nerve fibers of the body.
Celiac disease affects the autoimmune system damaging the small bowel. From infancy to any age group, this disease can be harmful. The main symptoms are fatigue and diarrhoea. Those who suffer from Celiac disease have difficulties in nutrient absorption abilities. An effective treatment for Celiac disease is a gluten-free diet.
Charcot-Marie-Tooth disease is a heterogeneous genetic disorder of nerves which is defined by touch sensation and loss of muscle tissue, especially in the legs and feet, but in the arms and hands as well in the advanced phases of disease.
Color blindness, or deficiency to perceive colors can be of a genetic nature, but can as well appear because of brain, eye, or nerve damage, or because of contact with some chemicals products. In 1798, the English chemist John Dalton studied this aspect for the first time. It is sometimes called daltonism after him.
Cri du Chat syndrome is a rare genetic disorder which affects approximately 1 in 20,000 to 50,000 live births. The disease does not depend on ethnic backgrounds, but is most common in the case of women.
The disorder gets its name from the typical cry of babies born with this syndrome. The baby sounds like a kitten, because of problems with the nervous system and larynx. The good news is that about 1/3 of infants recover by the age of 2. Negative aspects of this disease may be:
1. Feeding problems because they can't suck and swallow well
2. Low weight at birth and poor evolution,
3. Motor, cognitive, and speech delays,
4. Behavioral problems such as aggression, hyperactivity, and repetitive movements,
5. Uncommon facial traits that can change in time.
Cystic fibrosis is an inherited disorder which can affect the entire body, leading to gradual disability and death.
The most common symptoms are difficulty breathing and not enough enzyme production in the pancreas. Low immune system and dense mucous production lead to frequent lung infections that are treated, but not always cured, sometimes by intravenous and oral antibiotics. Many other symptoms, like sinus infections, poor evolution, and diarrhea can be effects of this disorder. Sometimes, recurrent lung infections during infancy or childhood may be a sign of cystic fibrosis.
Down syndrome is a hereditary disorder which features problems related to cognitive ability, physical evolution, and facial traits. It is called after John Langdon Down, the doctor who described it in 1866, in Britain.
Duchenne muscular dystrophy is a mortal disorder which is defined by rapidly gradual muscle weakness and damaged muscular tissue beginning in the pelvis and legs and then affecting the entire system.
Hemophilia is the name of some genetic disorders which mean the body's inability to control bleeding. The bleeding might be exterior, if the skin is broken by a cut, scrape, or abrasion, or it can be interior, into joints, muscles, or organs which are hollow. The result can be visible on the skin or subtle (e.g., brain bleeding).
Klinefelter syndrome has in main effect abnormal testicular evolution and decreased fertility.
Neurofibromatosis includes a more different genetic disorder which makes tumors develop along different nerves, besides, may influence the evolution of tissues which are not nervous, like skin and bones. The tumors may develop anywhere in or on the body.
The list may continue with other genetic disorders like: Phenylketonuria, Prader-Willi syndrome, Sickle-cell disease, Spina bifida, Tay-Sachs disease or Turner syndrome.
Unfortunately the list does not finish here and researchers in the domain of medicine must work a lot harder in order to discover remedies for them.
Common Genetic Disease
Common Genetic Disease
It is since two decade that there is an increasing awareness of the importance of genetic factors in the aetiology and pathogenesis of many disorders affecting man. Perhaps of most importance, is that this knowledge has also led the possible means of prevention of such disorders through genetic counselling and antenatal diagnosis.
Down's syndrome:
This occurs in about once in 700 live-births and is characterized by flat face with widely spaced and upward slanting eyes, epicanthic folds, brachycephaly, malformed ears broad and/or short neck and a single transverse palmer crease. Patients with Down's syndrome are invariably mentally retarded, but have a pleasant, quite personally and show a great fondness for music. About 1% of cases of Down's syndrome are mosaics, that is, they possess two different cell lines, one of which has a normal chromosome constitution, the other an extra chromosome 21. This arises as result of non-disjunction occurring at or after the first zygotic division and is very rarely inherited. The clinical picture may often be considerably modified in some of these cases.
Turner's syndrome: this was the first sex chromosome aneuploidy to be described in females. An XO sex chromosome constitution is the commonest abnormality and also arises by non-disjunction, but unlike Klinefelter's syndrome, Turner's syndrome does not show relationship with maternal age. Turner's syndrome may also result from isochromosomes, deletions and rings involving the X chromosome. The main clinical features of Klinefelter's Turner's syndrome are listed respectively, Sterility, small testes, Eunuchoid body proportions, Gynaeco mastia, Mental retardation and primary amenorrhoea, Sterility, Lack of secondary sexual characteristics, short stature and various congenital abnormalities.
Genetics of Haemophilia A: The factor VIII gene is localised on the X chromosome making haemophilia A, a sex linked disorder. Thus on pedigree grounds all daughters of haemophilia are obligate carriers and sisters have 50% chance of being a carrier. If a carrier has a son, he has 50% chance of haemophilia, and daughter has 50% chance of being a carrier. Haemophilia 'breeds true' within a family, as all members will have the same abnormality of a factor VIII gene, i.e. if one individual has severe haemophilia all other affected will also have a severe form of the disorder. Female carriers of haemophilia tend to have a reduced factor VIII levels because of random inactivation of the X chromosome in developing foetus. An indication of carrier ship can be ascertained by measurement of factor VIIIC: von Willebrand factor (vWF) ratio is reduced in carrier compared to normal individuals.
It is since two decade that there is an increasing awareness of the importance of genetic factors in the aetiology and pathogenesis of many disorders affecting man. Perhaps of most importance, is that this knowledge has also led the possible means of prevention of such disorders through genetic counselling and antenatal diagnosis.
Down's syndrome:
This occurs in about once in 700 live-births and is characterized by flat face with widely spaced and upward slanting eyes, epicanthic folds, brachycephaly, malformed ears broad and/or short neck and a single transverse palmer crease. Patients with Down's syndrome are invariably mentally retarded, but have a pleasant, quite personally and show a great fondness for music. About 1% of cases of Down's syndrome are mosaics, that is, they possess two different cell lines, one of which has a normal chromosome constitution, the other an extra chromosome 21. This arises as result of non-disjunction occurring at or after the first zygotic division and is very rarely inherited. The clinical picture may often be considerably modified in some of these cases.
Turner's syndrome: this was the first sex chromosome aneuploidy to be described in females. An XO sex chromosome constitution is the commonest abnormality and also arises by non-disjunction, but unlike Klinefelter's syndrome, Turner's syndrome does not show relationship with maternal age. Turner's syndrome may also result from isochromosomes, deletions and rings involving the X chromosome. The main clinical features of Klinefelter's Turner's syndrome are listed respectively, Sterility, small testes, Eunuchoid body proportions, Gynaeco mastia, Mental retardation and primary amenorrhoea, Sterility, Lack of secondary sexual characteristics, short stature and various congenital abnormalities.
Genetics of Haemophilia A: The factor VIII gene is localised on the X chromosome making haemophilia A, a sex linked disorder. Thus on pedigree grounds all daughters of haemophilia are obligate carriers and sisters have 50% chance of being a carrier. If a carrier has a son, he has 50% chance of haemophilia, and daughter has 50% chance of being a carrier. Haemophilia 'breeds true' within a family, as all members will have the same abnormality of a factor VIII gene, i.e. if one individual has severe haemophilia all other affected will also have a severe form of the disorder. Female carriers of haemophilia tend to have a reduced factor VIII levels because of random inactivation of the X chromosome in developing foetus. An indication of carrier ship can be ascertained by measurement of factor VIIIC: von Willebrand factor (vWF) ratio is reduced in carrier compared to normal individuals.
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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