How many people go to Gen Con?
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Sooner or later, in any association or group of patients of any of the thousands of diseases or rare genetic conditions we know, someone asks this question: “But… how many of us are there? Indeed, for any collective, knowing how many individuals make it up is important. It is even more so for people with a rare disease or rare genetic condition. Their strength and impact will depend, in a very important way, on how many people they are able to bring together, to group under the same umbrella. And, of course, the percentage of people they have already managed to bring together, in relation to the theoretical total number of affected people estimated to exist with that rare disease or rare genetic condition in the general population.
By Lluis Montoliu, published on December 30, 2019Category(s): albinism – patient associations – genetic diagnosis – genetics – science policyLabel(s): ALBA, albinism, diagnose, rare diseases, population frequency, ministry of health, patient registries
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Each cell in the human body contains between 25,000 and 35,000 genes. Genes carry information that determines our traits, that is, aspects or characteristics of who we are that are passed down to us from our parents (inherited from them).
Chromosomes come in sets of two (or pairs) and each chromosome contains hundreds (sometimes even thousands) of genes. Both chromosomes and genes are made of DNA, short for deoxyribonucleic acid.
Like chromosomes, genes come in pairs. Each of your parents has two copies of each of their genes, and each of them has only passed on one of their copies to you. The genes passed on to you by your parents determine many of your traits, such as the color of your hair and the color of your skin.
Perhaps Emma’s mother had one gene for red hair and one gene for brown hair and passed on the first gene to Emma. If the father had two genes for red hair, this could explain Emma’s red hair, since she would have received two genes for red hair, one from each of her parents.
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Should I do anything to prepare for the test? The BRCA test does not require any special preparation. But you may want to meet with a genetic counselor first to see if the test is right for you. Your counselor can explain the risks and benefits of genetic testing and the possible meaning of the results, and you should also consider genetic counseling after the test. Your counselor can explain the possible impact of the results on you and your family, both medically and emotionally.
What do the results mean?Most results are described as negative, uncertain or positive, and typically mean:Results may take several weeks. If you have questions about your results, consult with your physician or health care professional or genetic counselor.Learn more about medical tests, reference ranges and how to understand the results.
If your results show that you have a BRCA gene mutation, there are steps you can take to reduce your risk of breast cancer. These include:You should talk to your doctor or health care professional to see what is right for you.
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Sometimes, certain types of cancers seem to recur in some families. This may be because family members are exposed to the same factors or have similar habits that increase the risk of cancer, such as smoking. Other risk factors such as obesity are often common to several members of the same family and can also alter the risk of cancer.
In other cases, cancers that occur more frequently in some families may be caused by an abnormal gene that is passed from generation to generation. Although this is often referred to as hereditary cancer, it is not the cancer itself that is inherited, but the abnormal gene that can lead to cancer. It is believed that only about 5 to 10 percent of all cancer cases originate directly from genetic defects (called mutations) inherited from a parent.
Cancer is a disease in which cells grow out of control. This is because changes occur in some of the cells’ genes. Genes are a component of DNA that control how cells make the proteins the body needs to function, and how cells are kept in balance. Your genes affect things like hair color, eye color and height. They can also affect the likelihood of certain diseases, such as cancer.