Progeria Essay

In a case where it is detected prenatally, it can be diagnosed during an ultrasound or by genetic testing, including amniocentesis. However, if it is not detected before a person is born and symptoms are present, the doctor may run tests along with a physical exam and a family medical history. X-rays and bone density tests can be run to help diagnose Osteogenesis Imperfecta. In some cases the doctor may perform a bone biopsy.

This is about equivalent to one baby with the disorder being born each year in the United States. Since this disorder was discovered over a century ago, only a little over a hundred cases have been reported, but they were hard to study from because of the lack of technology. The Progeria Research Foundation is the single organization that

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.

How is it possible for a child to be born looking healthy to then rapidly age and die at an early age? Progeria, a genetic disease, is the answer. This rare disease causes premature aging and is fatal. By looking at the symptoms, the genetic cause, the research for a cure, and what you can do it, is possible to understand progeria.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

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.

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

Dandy-Walker Syndrome or Dandy-Walker Malformation is a congenital malformation of the cerebellum and the fluid filled space surrounding it. The malformation can include an enlargement of the fourth ventricle, a partial or complete absence of the space between the two hemispheres of the cerebellum (called the vermis), and a cyst formation near the lowest part of the skull (National Institute of Neurological Disorders and Stroke [NINDS], 2016). Dandy-Walker Syndrome is found in approximately 1 of 25,000 to 35,000 live births and is more prevalent in females than males (NORD-National Organization for Rare Disorders, 2008). Although an exact case is not known, the syndrome may be a result of defects in the embryonic development of the cerebellum. Research has found that in some cases patients have chromosomal abnormalities. Dandy-Walker may also be caused by genetic abnormalities or environmental factors, teratogens (NORD-National Organization for Rare Disorders, 2008). Maternal diabetes and infections passed through the mother to the fetus may also result in a child born with Dandy-Walker Syndrome (Childrens National Health System, 2016).

They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia

INTRODUCTION: Stickler syndrome was first reported in the medical genetics in 1965 by Gumnar Stickler et.Al who called the disease

There is no cure for this condition, but treatment can help with symptoms. Treatment options include:

Marfans Syndrome is a disease that results from a change of a person's DNA that can be classified as a genetic disorder. The change can be every minute, such as a single mutation in a particular gene or complex also the addition or removal of a complete chromosome. Marfan syndrome is a hereditary disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardiovascular( Mayoclinic.org).

Hirschsprung's disease is characterized by its history, symptoms and diagnosis, and treatment. Before 1948 infants with Hirschsprung's disease died. Today if Hirschsprung's disease is diagnosed early and treated the prognosis is very good.

The term Progeria derivatives from the ancient Greek, “progeros” meaning “prematurely old.” The most extensively studied form of Progeria is the classical type known as Hutchinson Gilford Progeria Syndrome, which was named after two scientist, first describe by Jonathan Hutchinson during 1885 and a follow expandation by the scientist Hastings Gilford in 1897; whom independently described this accelerated aging syndrome.

Telomeric Functions and Relationship with Age and the Mutations Affecting Children with Hutchinson-Gilford Progeria Syndrome (HGPS)