What is noonan syndrome?:
According to the National Human Genome Research Institute, Noonan syndrome is a disorder that makes your body have unusual characteristics (“Learning About Noonan Syndrome”). Examples include being unusually short, a wide or webbed neck, eye problems, and a lot more (“Learning About Noonan Syndrome”). Noonan Syndrome is diagnosed based on a patients symptoms and signs that they have it. About 50% of people with Noonan Syndrome have the mutation in the PTPN11 gene. About 20% of people with Noonan Syndrome have a mutation in the SOS1 gene (“Learning about Noonan Syndrome”).
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treatments:
According to National human Genome Research institute, treatment for individuals who have Noonan syndrome is based on their particular symptoms. Some patents bleed a lot and because of that, their treatment is different from others. Noonan Syndrome can also affect your growth, which leads to a specialized treatment. Symptoms are diffrent for every patient, and that's why treatments are different for each person that has Noonan Syndrome. (NIH, “Learning About Noonan Syndrome”)
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Mode of genetic inheritance:
Noonan syndrome is found in people with a history of an autosomal dominant gene pattern. A person with Noonan syndrome with this gene pattern has one altered gene that leads to the disorder. More than 33.3% of families have a parent with Noonan Syndrome. This leads to their offspring having the disorder. People with the disorder have a 50% chance of their offspring inheriting it. Some people with the disorder have a Novo Mutation, which means they are the first in their families to have Noonan Syndrome. (NIH, “learning about Noonan Syndrome”)
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GEnetic disorder rarity:
According to Medical News Today, Noonan Syndrome occurs in 1 in 1000 people to 1 in 2500 people. This means that if there were 1,000,000 sampled, approximately 1000 to 2500 individuals would be diagnosed with the disorder. According to ResearchGate.net, “Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%.” some of these regions include Africa,Asia,Latin America And more. (Leonard, “What's to know about Noonan syndrome?”) (NIH, “learning about Noonan Syndrome”)
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three current research projects:
According to National Genome Research Institute, one research project for Noonan Syndrome is an app that tells you if you have the disorder. According to the Noonan Syndrome Foundation, another project that people who study Noonan Syndrome have been trying is a project called Bleeding Guidelines. It is designed to help people with the bleeding problems caused by Noonan Syndrome, and help them get surgery to become healthy again. Another system scientists have created is called the Atlas of Human Malformation Syndromes in Diverse Populations, that helps recognize what genetic diseases people are experiencing and how to treat it. The project also works to provide proper healthcare for those with genetic mutations. (NIH, “ Atlas of Human Malformation Syndromes in Diverse Populations”) ( NIH, “ Learning About Noonan Syndrome”)
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