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The role of genetics in human welfare
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Human body is such an enigma. It is very fragile and there is not even a single person who did not fell sick in his lifetime. Some people suffer from minor flus and some have to undergo life-threatening surgeries. There are some who will have to take medicines all throughout their life and some face horrible treatments. But the most saddening thing is suffering from a disease that is so rare that only handful people know about it. It is such a bad luck that you are one in a million who is suffering from a weird disease.
Medical science has undergone a great revolution, it is getting better and more advanced than it was some decades back. In spite of such breakthrough advancement there are several diseases that don’t have a cure yet. A very hefty amount is being spent every day
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on research and experiments but there are some unique conditions that are extremely rare and there is a dearth of information available on them. Experts have a hard time in searching for a cure to treat such inexplicable conditions of human body. For some of these rare medical conditions “Symptomatic Treatment” can be applied but there is a long way to go before the appropriate treatments for each of these rare disease is found out. Below are some of weirdest diseases that not only cause discomfort but also are lethal, terrible and very painful for those who are suffering from them. Have a look at them. The Stone Man Syndrome (Fibrodysplasia Ossificans Progressiva) The Stone Man Syndrome or FOP is a very rare medical condition and 1 in every 2 million is affected by it.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory …show more content…
problems. Field’s Disease Field’s Disease is one of the rarest conditions and only two people have known to suffer from this inexplicable disease.
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
Microcephaly This is the condition in which the brain has stopped growing leading to a comparatively smaller head or the brain is not developed normally. The condition can be present at birth as well as can develop in the first few years of the child’s life. Microcephaly causes smaller head, seizures, hearing loss, intellectual disability, visual problems, facial distortions and dwarfism. But sometimes it is seen that the patients have normal intelligence. Doctors and scientists are unable to find the exact reason for the condition of Microcephaly. But they believe that abnormality occurs when during pregnancy baby is exposed to drugs, viruses, alcohol or toxins, which causes alteration the fetus’ DNA. The abnormality can be diagnosed either during pregnancy or after pregnancy but there is no treatment for Microcephaly and all the research has been redundant. Progeria (Hutchinson-Gilford Progeria Syndrome) Hutchinson-Gilford Progeria Syndrome (HGPS), commonly known as Progeria is a very rare and a fatal genetic abnormality that results in premature aging. Kids inflicted with Progeria start aging from the age of two and die of heart related diseases mostly at or around the age of 14 years. Children suffering from progeria look normal at the time of their birth but it is during their first year that they start to show symptoms like large eyes, bigger head, abnormal and slow teeth growth, hair loss and body fat loss. Children suffer from the disease typical for old people like hardening of heart, arteries, etc. there is no treatment for progeria as of yet but the research is still going on.
There are approximately six types of EDS that have been distinguished but other types exist that are very uncommon. Classical, Hypermobile, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis. Classical and Hypermobile make up over 90% of all reported cases of EDS. With the Classical type of EDS a person would have hyperextensible (stretchy) skin with widened atrophic scars and joint hypermobility. The skin is smooth and velvety with tissue fragility and easy brusability. Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypemobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.).
Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.
It needs to be understood that it is as natural as cancer or AIDS, but can be worse and a living hell for those who are the victims of this illness, and not treated in time. When we can give all the care and attention to other medical problems, and can go campaigning for them; then its time to look at this aspect of illness with same enthusiasm. We cannot afford to neglect this illness. We need more voluntary involvement, and have a better infrastructure developed to build a better future for every person who is suffering, and who is prone to suffer with the current mode of life of high stress and competitions.
"10 Medical Breakthroughs Expected in the Next 10 Years." n. pag. Web. 31 Jul 201
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
of Ebola. It is so lethal that nine out of ten of its victims die. Later, the
With better and upgraded technology, doctors can diagnose, treat and send a patient home faster than ever before.
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
Overall, a lot of people leave there diseases undiagnosed and untreated for various reason such as financial/social status, culture, religion and sex. In some cultures it is left to the male to decide who is ill enough to seek medical help and who is not, and even then whether they are allowed to accept that help. Some religions do not believe in certain kind of treatment such as blood transfusions, and it is commonly known that women will tolerate illness a lot better than men.
...ly researched today. Hopefully, the disease will soon be able to be diagnosed early enough that its progression can be stopped and be cured. With current research and development, this day may soon come.
Over the past decade, scientists have made significant advancements in the treatment of certain diseases. Unfortunately, just like any new product, the cost of developing these new technologies and treatments is extremely high. Plus, unlike other technology, heath technolo...
Because of this, many researchers are searching for a way to help treat or cure this disorder in
The procedures that will be the future of modern medicine currently fall into the realms of taboo and fictional. These procedures encompass every aspect of medical science, from exploration of the human body, curing diseases, to improving a person’s quality of life. Many of these procedures are not very well known, while a few have been in the spotlight. These procedures include cloning, nano-robotics, retro-viruses, and genetic manipulation via gene-specific medications. For any serious breakthroughs in modern medical science, we must embrace these new forms of treatment instead of shying away from them. Second, I’ll attempt to explain how these methods and procedures could benefit mankind.
My future plans are to become a biomedical scientist. Biomedical scientists serve in all levels of health science research from basic science working with cell cultures to human clinical trials experimenting the most cutting-edge breakthroughs to maximize human quality of life. I am interesting in researching rare diseases. There are many rare diseases that affect small proportions of the population and unfortunately go unnoticed for reason. Unfortunately, usually it is because therapeutic agents for these diseases would have a much smaller market than therapeutics for common diseases. There is an immense need for research attention to ultimately improve clinical outcomes in patients of rare diseases because many are a lifelong chronic prognosis and are genetic and non-modifiable by lifestyle factors and are lacking of often absent of current treatment options. The government helps by socializing the solution by having money set aside by public National Institute of Health (NIH) to research ‘orphan diseases’. An example of one such program from the NIH is Orphan Products Natural History Grants Program.