Progeria

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optic atrophy

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Todoist

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CULTURAL SHOCK

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Mutation and Genetic Drift

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Progeria

Current Resarch

Some research that has been include, researchers have successfully used a dna editing technique to extend the lifespan of mice with the genetic variation associated with progeria. If approved and tested more, can be applied on patients with the disorder. Another thing that has been done as been the achievement of extensive global awareness of the disease, and confirmation of critical biological links between Progeria, heart disease and the aging we all experience.

There is more and more hope for patients with Progeria everyday with the help of scientists, healthcare professionals and the public who raise awareness and money for the rare disorder,

Treatment

Progeria does not have a cure, although can be managed. The main treatment is managing your symptoms. Some treatments can include a change in diet, heart disease treatment, and physical therapy.

Some healthcare professionals that contribute to the care of children with Progeria include: -Neurologist -Dermatologist -Dentist -Orthopedist -Cardiologist -Nutritionist -Otolaryngologist -Medical geneticist

Interesting Facts

-The condition is extremely rare, affecting around 1 in every 4 million children. -The disease can lead to fatal heart complications and a heightened risk of stroke. -Its name derived from Greek origins, and means "prematurely old".

What is Progeria?

Progeria, also known as Hutchinson's-Gilford syndrome, is a rare progressive genetic disorder that causes children to age at a rapid pace starting in their first two years of life. The premature ageing affects many body systems.

Viral Youtuber with Progeria:

Community and support

The community for people and families affected by Progeria is a small one as it is such a rare disorder. Some organizations that support these families include: -Progeria Research (Foundationhttps://www.progeriaresearch.org/about-us/) - The Mayo Clinic (https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043)

History of Progeria

The disorder was originally described in the medical literature in England in 1886 and 1897 by J. Hutchinson and H. Gilford. The disorder was not well researched until more recent years. The biggest studies on Progeria have taken place in the early 2000s after more people became aware of the disorder. Research is still being done to this day to find a cure.

Cause of Progeria

The cause of Progeria is a single gene mutation. The gene, known as lamin A (LMNA), makes a protein that holds the center of a cell together. When this gene has a problem or mutation, an irregular form of the lamin A protein called progerin is produced and makes cells unstable.

Pictures

https://docs.google.com/document/d/19AcC2Usf7BkxxpPtkICuzY7qG_chtZTZOqF15iu_WO8/edit

Symptoms of Progeria

Symptoms range all over the body as Progeria affects almost the entire body. Some symptoms include: -Poor growth -Large head size relative to face -Loss of fat under the skin -Delayed eruption of teeth and other dental abnormalities -Baldness (alopecia) -Stiff joints -Thin, weak bones (osteoporosis) -Progressive heart disease -Normal intelligence

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