Gabriella Gnaw's Puppet Syndrome

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

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.

One of the largest obstacles hampering research is funding. There is obviously a massive amount of research that must be conducted; the

Angelman syndrome is thought to be caused mainly by the deletion of the maternally inherited copy of UEB3A. A small number of cases are also caused by failures in imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound mental effects are caused by this gene due to the fact that, while UEB3A’s protein is active in various bodily tissues, only the mother’s copy of the gene is active in the brain.

For some, a life time of devotion does not start with birth. A lifetime may not even start until later in life. For Phillip M. Gattone, his life’s work had not begun until his mid-thirties. Woken up by one of his infant son’s crying, he found his son Phillip, who was four at the time, seizing on the floor with eyes rolled back and lips turned steel blue (Condor). Epilepsy had just entered his life. Phillip Gattone is an average weight, healthy, white American man who grew up in the Chicago area, and is unassuming in demeanor. Easily perceived as an average businessman, he does not play sports or do much of anything outside of running the Epilepsy Foundation. Since waking to the nightmarish scene of his son in a seizure, Mr. Gattone’s life purpose has been dedicated to epilepsy research, awareness, and treatment progress. Through his hardship, he has founded the Center for Epilepsy Education in Batavia, became chairman of the Epilepsy Foundation of Chicago, and is now the CEO

In 2012, the institute received $109 million in federal research funding (Funding, 2017). In 2016, the clinic had a total of 179 billion in grants and funds from different sources. There methods of funding come through research and clinical trials. For example, grants were awarded from 3M Company, National Institute for Health, Agency for Healthcare Research and Quality, Huron Foundation, Sano Informed Prescribing LLC, and John Hopkins just to name a few (Funding, 2017).

Kenneth leading PhRMA , along with other co-hosts organized the 2015 research & hope award in Washington DC at September 2015. Continue after the events, PhRMA announced that the member companies invested US $ 51.2billion in the research for the treatment and cures for diseases such as Alzheimer’s, Parkinson’s, cancer, and several other

In 1936, Marjorie G. Illig, a ASCC Field Representative and Chair of the General Federation of Women’s Club Committee on Public Health created a legion of volunteers whose purpose was to wage war on cancer. Dr. Sidney Farber, one of the first research grantees, achieved first temporary cancer remission on a child with acute Leukemia, and that opened up the use of using the drug Aminopterin, and also opening up the era of Chemotherapy for cancer treatment. Since 1946, ACS has invested more than $4 billion in research, and they have contributed to nearly every major cancer research breakthrough in almost 70 years since the program started. The National Cancer Act in 1971 had "granted special funds and authority to expand the National Cancer Institute and revolutionize the war on cancer." Between 1991 and 2014 there has been 2.1 million fewer cancer deaths and they have had a 25% drop in overall cancer death rate in the

JDRF is funded by academia, industry and clinicians as well as events such as walk for a cure or ride for a cure. JDRF spends its money very efficiently with more than 70% of its money going to research a cure(source one). JDRF spends around 100 million dollars to find a cure for T1D (source four). Here is a chart showing what JDRF plans to spend on research and other things. For instance the research plan deals with the new technology known as the artificial pancreas also known as the bionic pancreas which

Her muscles started to weaken and she was throwing up frequently, with a paediatrician diagnosing her with Global Development Delay. This was when the visits to specialists across the nation began. Julia’s family fought for their daughter’s life, going through rigorous medical screening procedures to put a name to her ailment, only to have results come back nominal. By age one, Julia hadn’t learned how to speak, didn’t cry and stopped responding to toys. At age two, Julia experienced her first non-febrile seizure.

The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will

Recognition of different forms of Progeria has developed over the years but the most recognized classic is Hutchinson-Gilford Progeria Syndrome (HGPS). This rare disease was named after Jonathan Hutchinson and Hastings Gilford who worked separately on this disease. It was first observed by Jonathan Hutchinson, a London surgeon, in 1886. He recorded a 6-year old boy in England who exemplified premature aging:

As a result of his efforts and the success of the first campaign that totaled $140,000 in donations, several research centers have partnered up with Septembeard including: UCSF Helen Diller Family Comprehensive Cancer Center, Johns Hopkins Prostate Cancer Team, UCLA’s Prostate Cancer Treatment and Research Program, Northwestern University, MD Anderson Cancer Center, Mayo Clinic Cancer Center, and Memorial Sloan-Kettering.

1943 saw further study of this condition, when Leo Kanner researched 11 children. He noticed they had many common traits such as difficulty with social situations, need for consistency and were easily over stimulated.

Progeria is a rare genetic disorder causing one to age rapidly. It was founded in 1886 and in 1897 by doctors in England by the names of Dr. Hutchinson and Dr. Hastings Gilford. Hence the doctors that founded it, it also goes by the name Hutchinson-Gilford Progeria Syndrome. This disease is quite rare and only affects about 1 in 20 million people in the world. Most children diagnosed with progeria often die of complications like atherosclerosis, which is a buildup of plaque against artery walls that causes tearing of the blood vessels. When a child is born, the parents cannot necessarily tell their child has progeria. The characteristics are typically reflected within the first two years and then that child is diagnosed with