Progeria Research Papers

Once called the “leprechaun’s disease”, Hutchinson-Gilford Progeria Syndrome was first described in 1886 by the English surgeon Jonathan Hutchinson and by Hastings Gilford in 1904. The main reason why it took so long to find the gene for Childhood Progeria is that it only affects about one baby in every four million to eight million in the world.

Approximately 947,570 Americans have Asperger’s Syndrome (AS), however, it is not an easy disorder to explain (Bashe 19). With multiple conditions and characteristics in each case, AS is not an easy disorder to diagnose. Asperger’s Syndrome was named after Hans Asperger, an Austrian physician, who first described the disorder in 1944 after studying a group of children with similar, unusual characteristics. However, AS was not made an official disease until 1994. Consequently, Asperger disease is just now becoming published and popular so there is still research and questions being answered. Asperger’s Syndrome, an autism spectrum disorder, is noted by above-average

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

As you can see genetic testing is very important and can affect a child's and parents lives for the better and the worst. Children all over the world have serious genetic diseases that affect their life on a daily. Some of these diseases are Achondroplasia, Down syndrome, and Turner's syndrome. Many believe genetic testing is a good way to test for these genetic conditions before the child is even born, but others think that it can harm the baby very badly and even cause a miscarriage, so they choose not to do this kind of testing. Knowing about the most serious genetic diseases is very important for expecting parents to be informed as well as being

Genetic testing identifies changes in ones genes and chromosomes. These changes often lead to diagnoses of conditions, disorders, or diseases. Through testing, “one can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.

Results provided through genetic testing enables doctors to be more informed in terms of their patients; allows regular screening practices, or treatment planning at early stages.

Asperger’s syndrome is a genetic disorder. It usually runs in families, and is passed down generation to generation. The research they are conducting suggests that abnormalities of the brain are the cause of Asperger’s syndrome. They think the abnormalities of the brain happen because of an idiosyncratic movement of embryonic cells during the fetal development. They haven’t found the gene specifically for Asperger’s disease yet. They’re beginning to think that there may be a common group of genes that are responsible for making Asperger’s occur. It’s complicated for doctors to diagnose this disorder. They don’t have a standard way of diagnosing Asperger’s. Some ways of diagnosing it have different criteria, and therefore

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.

In 1896, Sachs gave the newly discovered disease a name: amaurotic family idiocy. Over the next decade, researchers learned more

As of 2012, Progeria Research Foundation provided over 3 million dollars for progeria related research projects performed in many states and in 6 other countries. As of right now, there are not any treatments to help cure progeria but there are some medications to help some of the problems such as arthritic, respiratory, and cardiovascular problems and to help make people living with progeria more comfortable. Doctors suggest that children with Progeria take aspirin to help with their heart health. Once the child has hypertension, strokes or seizures, the child will take medicines similar to what adults would take for these

genetic testing, everything has changed. She notes that clinicians now have the ability to diagnose, treat, and monitor a patient’s illnesses or disease progression in an entirely different manner. This is a far cry from the old medical model of responding to a disease (or defect) only after it appears, and then prescribing the recommended medication or intervention. These genetic medical advances sound miraculous and promising, but the ability to test, screen and provide early intervention does not come without many major ethical dilemmas.