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Medicine For Genetic Disease
A genetic disease is a disease that is caused by a defect in the genetic (dna) material in a gene (s). It can be inherited and mosy pose a risk to other family members and/or to future children. For many genetic diseases there are molecular tests that allow detection of a change (s) called mutations, we can also detect deltions or other changes to the gene's dna that can also result ...Read more
Tuberous sclerosis is often called ts or tsc. It is a hereditary disorder that is characterized by individuals devoloping a small benign lesion called a hamartoma in various organs including the brain, lung and kidneys.
Ts fact sheet from nih at http://www. Ninds. Nih. Gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis. Htm. ...Read more
Very different: Communicable disease are diseases that you can catch from someone else. Genetic diseases are caused by changes in your genes. Genetic diseases can only be passed on from your parents. ...Read more
Unknown: The Dysmorphologic condition, short tongue and short fingers has unknown etiology but doesn't run in families. The metabolic condition is genetic ...Read more
Narrow it: The more narrow the subject, the more interesting the outcome. Get a few current papers from the big journals like NEJM or Science or Nature: Genetics. Further, if your grader has some particular ideological point of view (perhaps "It is morally wrong to end pregnancies even when the unborn child has a terrible genetic disease"), don't take an opposite position. Keep it interesting. ...Read more
Caused by a gene (s): A genetic disease is a disease that is caused by a defect in the genetic (dna) material in a gene (s). It can be inherited and mosy pose a risk to other family members and/or to future children. For many genetic diseases there are molecular tests that allow detection of a change (s) called mutations, we can also detect deltions or other changes to the gene's dna that can also result in a genetic dis. ...Read more
In some cases of genetic disorders there is a founder effect such that a certain genetic disorder runs within that ethnic backround. An example is ashkenazi jewish heritage is associated with a number of disorders like tay-sachs.
Although variable based on the condition, spontaneous mutations occur in individuals such that they are affected but are not related to an affected person. ...Read more
Inheritance: A genetic disease is inherited in one shape or form from parents. They can be dominant, meaning that if you get the gene from one parent you have the disease. Usually in this case the parent also has the disease. They can be recessive, meaning you need to get the gene from both parents. Usually in this case both parents are unaffected carriers. Non-genetic diseases are seemingly random. ...Read more
See below: Basically, bad luck.Get a more detailed answer ›
Unknown: Some are rarer than one in 100, 000. We are continually finding new genetic disorders and we may have no clue with regard to how frequent they are. Dozens of severe multiple malformation syndromes exist which are striking but none of the world's geneticists have a clue with regard to what causes them. How do you estimate frequency of a single case in the world's medical literature? ...Read more
There are lethal genetic diseases that prevent a baby even being born. Many of these are due to major chromosomal defects.
In terms of devasting diseases affects people, there are any number that are distressing and have profound affect on people and their families in so many ways. ...Read more
Good to know more...: There are several degenerative genetic disorders that may be lethal in teenage years, for example duchenne muscular dystrophy, batten disease. To provide more focused answers please provide more details. Ideally, careful discussion with a genetic counselor would be helpful. ...Read more
It's quite possible: We often think of genetic disease as causing birth defects or problems with early childhood development, but in fact genetic conditions can become apparent at any age. Take hereditary cancer, for instance. That often is not apparent until adulthood, often among young adults. But the real answer is that everything about our illness and wellness has a genetic component, often small, sometimes big. ...Read more
Get facts, support: Geneticists and genetic counselors help patients and families with genetic diseases learn accurate information and then kelp them find support and help handling the burden of the disease and its impacy on the indivual and family. ...Read more
Always Face to Face: I always make the time to give this information personally. I have also found that doing it the format of a house call is the most effective, unless the patient happens to be hospitalized at the time. ...Read more
Please clarify: I'm afraid your question isn't clear as written. ...Read more
It can be: Primary microcephaly is an autosomal recessive genetic disorder. Microcephaly is also a feature of other genetic disorders with multiple features. Microcephaly however is not always a genetic condition. A clinical geneticist or neurologist will be able to perform evaluations to determine the cause of the microcephaly. ...Read more
Genetic influence: Anencephaly is one of the many forms of neural tube defects that can occur. The factors are likely present on several chromosomes, making it a polygenic rather than single gene in origin. Recurrence risk of any form of ntd to a previously affected couple is a few percent. ...Read more
Sporadic malformatn: The fetal nervous system first forms as a groove that folds in on itself and begins to close from the middle outward to the top & bottom. If the bottom doesn't close, spina bifida develops. If the top doesn't, anencephaly occurs. Recurrence risk to any affected mom ~1-2% makes this non-genetic. There is some evidence that taking Folic Acid before pregnancy & up to 3m can help prevent it. ...Read more
Somewhat genetic?: Sle (lupus) is an auto-immune disorder in which a person's immune system is reacting strongly against parts of his own body. The inflammation from the immune system reaction leads to symptoms. It is believed to be partly genetic (some people may be genetically more likely to get sle) and partly environmental (something happens in a person's life that sets off the auto-immune reaction). ...Read more
Sometimes: Those with a 1st degree relative have 3x increased risk for developing ad. There are also familial forms of ad due to genes passed on, usually these fads present in patients earlier in the 40s or 50s. Of course, the most common population to be affected are the elderly- and then there is a genetic predisposition to develop the illness. ...Read more
Depends on type:
Type 1 diabetes is an autoimmune disease with antibodies that attack part of the pancreas. Although there may be a slight genetic component, this is generally thought to be sporadic-that is, people just get it regardless of family.
Type 2 does seem to be related to genetics. It is not a disease where if you have the gene you have the disease; rather, there appear to be risk factor genes. ...Read more
Chromosomal abnormal: Down syndrom is considered a chromosomal abnormality due to the presence of three number 21 chromosomes instead of the normal 2. ...Read more
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more