Progeria is a progressive genetic disorder that causes premature aging. It is extremely rare, as only one in four million newborns, will have it worldwide. Progeria is also call Hutchinson-Gilford Disease, after Dr. Jonathan Hutchinson, who described the disease first in 1886, and Dr. Hastings Gilford, who did the same thing in 1904. In 2003, Researchers from The National Human Genome Research Institute, The Progeria Research Foundation, The New York State Institution for Basic Research in Developmental Disabilities, and The University of Michigan discovered the cause was a single point mutation. A substitution of one point on a gene called Lamin A (LMNA), causes Progeria. As Progeria is caused by a gene mutation in the sperm before conception,
…show more content…
Once they suspect a newborn has it a doctor can send in for genetic testing of LMNA mutations. The Progeria research foundation has a test doctors can send samples in for. After being diagnosed there are some therapy and experimental drugs to help slow down the process, but there is currently no cure for Progeria. Children can take a low-dosage of aspirin daily to help prevent heart attacks and strokes, and sometimes other medication will be prescribed by doctors to help with some symptoms. They can also have physical or occupational therapy to help with the joint stiffness and hip problems. Sometimes they will have their primary teeth removed, as the permanent teeth may start growing in before the primary teeth fall out. Research is being done on genes and the course of the disease to help find a cure, there are also some clinical trials bringing done to see if medicine for other disease may work. In September 2012, a clinical trial showed that Lonafarnib, which is a farnesyltransferase inhibitor created to treat cancer, was effective. This was not approved by the FDA so there is no way to get it outside of clinical studies. Over all Progeria is fatal. Children with Progeria will most likely die between the ages of eight and twenty one, with the average lifespan being thirteen years old. Most die due to Heart Attacks, other Heart Problems, or
Once they suspect a newborn has it a doctor can send in for genetic testing of LMNA mutations. The Progeria research foundation has a test doctors can send samples in for. After being diagnosed there are some therapy and experimental drugs to help slow down the process, but there is currently no cure for Progeria. Children can take a low-dosage of aspirin daily to help prevent heart attacks and strokes, and sometimes other medication will be prescribed by doctors to help with some symptoms. They can also have physical or occupational therapy to help with the joint stiffness and hip problems. Sometimes they will have their primary teeth removed, as the permanent teeth may start growing in before the primary teeth fall out. Research is being done on genes and the course of the disease to help find a cure, there are also some clinical trials bringing done to see if medicine for other disease may work. In September 2012, a clinical trial showed that Lonafarnib, which is a farnesyltransferase inhibitor created to treat cancer, was effective. This was not approved by the FDA so there is no way to get it outside of clinical studies. Over all Progeria is fatal. Children with Progeria will most likely die between the ages of eight and twenty one, with the average lifespan being thirteen years old. Most die due to Heart Attacks, other Heart Problems, or