Progeria+Sick+gene+activity


 * CRITRIA

-Symptoms:Growth failure, narrow/wrinkled face, baldness, loss of eyebrows and eyelashes, short stature, large head for size of face, open soft spot, small jaw, dry/scaly/thin skin, limited range of motion , and delay or absence of teeth.

-Type of Genetic Mutation:Recurrent de novo point mutations in lamin A cause Progeria Syndrome.

-Type of Genetic Relationship:Progeria syndrome is considered an autosomal dominant, which means one copy of the altered gene in each cell is enough to cause the disorder.

-Causes:Progeria causes death at early age. Patients usually only live up to their teenage years. Some live up to their 20s. The cause of death is related to the heart or a stroke. Progeria is caused by mutation in the gene called LMNA. The LMNA gene produces the lamin A protein, that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A proteins makes the nucleus unstable.

-Epidemiology: There is a 1 every 4 million births chance of getting Progeria. There are estimated 80 known cases in the world. Progeria is caused in the early stages of embyro. It is almost never passed on from parents to offspring mostly because affected children do not live long enough to become a parent. People with the Progeria disorder tend to only live until their teen years. Both males and females are likely to be affected.

-Diagonisis: Progeria is detected by blood tests that are specifically looking for gene mutations. A genetic test for LMNA mutations can confirm the diagnosis of progeria.This can translate into earlier diagnosis, fewer misdiagnoses and early medical intervention to ensure a better quality of life for the children. After definitive diagnosis of Progeria, physicians and families are in need of medical treatment information for many years to come, and PRF is there to provide this important information, such as treatment recommendations that address day-to-day quality of life issues.

-Prognosis: Progeria is a diesease that does not currently have a cure. Respiratory, cardiovascular, and arthritic problems can be treated but that wont be enough to take the entire disorder away from the child. People with progeria age very quickly and usually die in their teenage years.Children with progeria usually develop severe hardening of the arteries.Most children with progeria die of complications related to atherosclerosis like, problems with the blood vessels that supply the heart, resulting in heart attack and congestive heart failure. Also problems with the blood vessels that supply the brain, resulting in stroke.

-Treatment: There is not a scientific treatment or cure for progeria yet.

- 2 EXTRA FACTS: 1.The increase in scientific publication since the progeria gene was discovered is 1500%.

2. The number of Children part of PRF’s Medical & Research Database is 110.

-EC What are scientist studying about it now or have they found a cure: The Progeria Research Foundation helped in the discovery of progeria and is now involved in clinical drug trials. They have made a tremendous progress, but no one can predict how long it will take to finally find a cure for Progeria. So scientist are studying and looking for a cure but have not yet found one.

[|kid with progeria] [|diagram]

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