Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Which genetic disorder
Which genetic disorder
Which genetic disorder
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Which genetic disorder
An Overview of Hutchinson-Gilford Progeria Syndrome
The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research that give those affected by the disease hope for a brighter future are highlighted.
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
Progeria is onset by a complicated series...
... middle of paper ...
...ties are still exciting to speculate over.
In closing, as overwhelming as the complications brought about from progeria may seem it is important to keep things in perspective. Research has gone a long way to improve the livelihood of those affected by this awful disability and in the process opened several new doors. While these fresh discoveries raise a plethora of new questions, it is essential to pursue the betterment of life for everyone. After all, HGPS is but one of many disorders set off by a slight and uncontrollable mutation. Fortunately, organizations such as the Progeria Research Foundation are working hard to raise awareness of the disease and unlock its true cure. In time all of this strife will bring a rich reward of enlightenment and new possibilities for the genes of every living being as the mesmerizing depths of the genome are abundantly explored.
...is a disease that runs in families and prevents people from sleeping, causes motor and emotional problems, and is eventually a killer. GSS was linked to two mutations in the prion gene in 1989. Prion fragments accumulate in the brain in
Life according to Sam, is a documentary that showed Sam’s life with such disease, and how he was living as a teen with progeria.He mentioned the documentary in the video and told the audience how as a person he changes,such as some his dreams of what he wanted to become.he says”no matter what I choose to become, I believe I can change the world.And as I'm striving to change the world, I will be happy”.
Physicians can only give palliative treatment for fibromyalgia. The primary goal of palliative care is to prevent secondary illnesses and alleviate patients’ suffering. What physicians offer are the so-called remedies even if they give prescription drugs. When a doctor prescribe analgesics, it does not mean this can ultimately cure the syndrome rather give temporarily relief to patients.
Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...
The purpose of my research paper was to find out information about a tissue disorder. The tissue disorder that I chose was Marfan Syndrome.
The moment that we are born we begin the aging process, where the majority of humans are born youthful and slowly grow older. Our bodies display normal wear and tear done from our past such as; aged skin, hair loss, and joint stiffness as we progress through life. Imagine being a new mother and one day you notice your infant displays symptoms of accelerated aging. Well, about one in 8 million children are born with an extremely rare, fatal genetic disease called Progeria (Neelam, Singh). The name is derived from the Greek word progeros meaning ‘prematurely old’. There are different variations of this disease; the most common type being Hutchinson-Gilford Progeria Syndrome (HGPS). The discovery was first made in 1886 by Dr. Jonathan Hutchinson, and then in 1897 Dr. Hastings Gilford was the first to refer to the disease as Progeria. This paper will discuss the cause of the disease, along with signs and symptoms that are commonly displayed. Progeria is caused by abnormal genes, resulting in rapid aging of individuals who suffer chronic and progressive symptoms, ultimately affecting the quality of life.
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
Hutchinson-Gilford Progeria Syndrome (Progeria or HGPS) is a rare genetic mutation that is characterised by premature aging. Only 40 cases have been recognized worldwide. It is characterised by medical features that develop in childhood and they resemble some features of accelerated aging. (Eriksson, 2003) The name “Progeria” comes from the Greek and it means “prematurely old.” There are different types of Progeria, but this is the classic type and was named after the doctors who first discovered it.
The Autonomic Nervous System is responsible for the functions of the body that are not thought about to control. When this system dysfunctions, it can cause havoc on the human body. One example of this would be Dysautonomia. Dysautonomia is a rare but serious disease that affects the autonomic nervous system, has many symptoms, and offers few treatment options.
Mutation: Werner Syndrome For most, aging is an enviable part of the life cycle, which often involves a progressive change in physical, cognitive, and psychological aspects. However, individuals diagnosed with Werner syndrome face an escalated biological clock, so to speak. According to Pierce (2013), Werner Syndrome, is an autosomal recessive disease associated with premature aging and early death. The rare hereditary disorder was discovered by the German scientist Otto Werner and affects approximately 1:200,000 births (Kuan, 2016). The following will review Werner syndrome, including accompanying symptoms, specific mutation, discovery or the disease, impact of the mutation, and the potential for genetic technology.
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Dementia is a significant health issue in Australia (Australian Institute of Health and Welfare 2012) (AIHW 2012). Whilst Dementia primarily affects older members of the community, it can also affect young people and has a significant influence on overall health and quality of life (AIHW 2012). The type of Dementia is a determinant in the severity and development of symptoms in individuals (Department of Health 2013) (DoH, 2013). The gradual, progressive and irreversible nature of Dementia has a considerable social and physical impact not only on the individual, but also on family and friends.
Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment, and support resources available to affected children and their families.
Boston: Bedford/St. Martin,. 304 - 316 mm. Print. The. Newman, Stuart A.. “The Hazards of Human Developmental Gene Modification.”
Werner syndrome, also known as Adult Progeria, is a devastating disease characterized by early aging, short and thin stature, and bilateral ocular cataracts. Patients with this disease also experience increased susceptibility to cancer and a lower expected lifespan. Since Werner syndrome is an autosomal recessive disease, patients will therefore need recessive alleles from both parents to fall victim to the disease. The WRN protein is a member of the RecQ family of DNA helicases and is involved in diverse pathways including DNA repair, replication, Telomere metabolism, and P53 mediated pathways. (Agrelo paper). Werner syndrome is strongly associated with a decreased amount of the complete WRN protein.