Progeria Genetic Disorder Project
Created By: Khalil Moore
Progeria
Hutchinson-Gilford Progeria Syndrome is a rare genetic disease characterized by the accelerated aging in children. Progeria affects 1 in 4-8 million newborns. It's estimated that 200-250 children living with the disease at one time. Since The Progeria Research Foundation was created in 1999, children with Progeria were discovered living in over 40 countries.
Symptoms and Biology of Disease
- Growth failure during the first year of life
- Narrow, shrunken or wrinkled face
- Loss of eyebrows and eyelashes
- Baldness
- Small jaw
- Open Soft Spot
- Dry, scaly, thin skin
People affected by Progeria
Sam Berns (October 23, 1996 – January 10, 2014)
Sam Berns was an American teen who was affected by progeria and helped raise awareness in the HBO documentary Life According to Sam in 2013.
Meg Casey
Meg Casey was also one of the oldest progeria survivors living up to 29. She wtoe a column in a newspaper for the problems with handicapped and served on a commission on the disabled in Milford, Connecticut
Leon Botha (4 June 1985 – 5 June 2011)
Leon Botha was one of the oldest progeria survivor in the world living to the age of 26. He was a skilled painter and an entertainer having his first solo art exhibition in 2007 named Liquid Sword/I Am Hip Hop based on the hip hop culture his live was about.
Type of Mutation and Inheritance
HGPS is caused by a mutation in the gene called LMNA. The LMNA gene produces the lamin A protein which holds the nucleus of a cell together. The abnormal lamin a protein is progerin. Progerin makes the nucleus unstable, causing the premature aging and disease in Progeria.
HGPS isn't usually passed down in families. The gene is always a chance occurrence but it's extremely rare. Children with other types of progeriod syndromes might have diseases passed down in families. HGPS is a sporadic autosomal dominant mutation. Sporadic meaning it's a new change in that family, and dominant because only one copy of the gene is needed to be changed in order to have that specific syndrome.
Diagnosis/Treatments/Ethical Implications
Making a diagnosis of progeria includes taking a personal and family history, such as bad growth and weight gain, and completing a physical examination. There's no way to avoid progeria, and there aren't treatments that can cure progeria. But, regular medical care and certain treatments can reduce some symptoms and slow the progression of the disease. There are no moral or ethical problems with progeria. The only issue is due to the symptoms of progeria syndrome, people affected by it picked on because of it.