Spinal Muscular Atrophy Spinal Muscular Atrophy, also known as SMA, is the number one genetic disease killer of children under two years old. About one in every 6,000 babies are born with SMA and one in 40 people carry the gene that causes SMA. Spinal Muscular Atrophy is a genetic disease that affects the part of the nervous system that controls the muscle movement. Most of the nerve cells that control the muscles are located in the spinal cords. SMA is when there is a loss of nerve cells and protein
Spinal Muscular Atrophy Eveline S. Arnold and Kenneth H. Fischbeck Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA Abstract Autosomal recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder involving degeneration of anterior horn cells in the spinal cord due to a deficiency of SMN protein produced by the SMN1 gene. While this is an extensive topic, the following paper attempts to provide an overview of relevant aspects and treatment strategies of interest. The most obvious clinical sign of SMA is generalized, symmetric weakness that affects proximal more than distal muscles and upper more than lower extremities. Upper
disorder. Bittles, A. H., & Black, M. L. (2010). Consanguinity, human evolution, and complex diseases. Proceedings of the National Academy of Sciences, 107(suppl 1), 1779–1786. http://doi.org/10.1073/pnas.0906079106 Bittles is an Adjunct Professor and Research Leader at Murdoch University in Australia and is the author of the book “Consanguinity in Context”. M.L Black is employed at the Centre for Human Genetics at Edith Cowan University in Australia. This online journal provides statistics on marriage
that often is misdiagnosed. The FDA has yet to establish a standard of care. This research paper will outline how OMS is diagnosed, the demographics of patients diagnosed with OMS, parts of the body affected, and treatment options. This researcher picked this disease by personally experiencing and witnessing the effects of this disease on a child from birth to the age of nine. For the purpose of this research paper, this patient will be referred to as “Patient C.” OMS is often referred to as “Dancing
and location and correlated them with neuroanatomical pathology (Osler, 1889). There were several cases that came from Pennsylvania Institution for Feeble-Minded Children, these patients showed severe mental retardation. Osler noted that Strumpell’s paper in 1885 initiated his interest toward this problem. He pointed out the associations between difficulties during deliver, prolong resuscitation, asphyxia and seizures He believed the theory that Strumpell has of polioencephalities showed similar pathology
continued controversy in both stem cell research and using stem cells as therapy. For many incurable conditions, that have little to no treatment, the potential for receiving a “miracle” stem-cell therapy offers a sliver of hope to many of these hopeless individuals. Stem cell research and its potential resulting treatments are often the only possible hope for individuals with paralysis or a degenerative disorder. One such disorder is Type II Spinal Muscular Atrophy (SMA). This genetic disorder is an
manipulation. Whether the subject is cloning, genetic modified organisms, or even the use of antibiotics there will always be some type of ethical issue raised. One topic that has a lot of ethical issues surrounding it is designer babies. This research paper will explain what exactly a designer baby is, the pros, the cons, the reality, and the ethical issues surrounding genetic babies. So, what exactly is a designer baby? In layman terms, a designer baby is an embryo that is genetically engineered
Are “designer babies” the new hope for millennial generation? Introduction Genetically modified babies are reputably a growing topic since the development of genetically modified foods. This paper aims to explore the ideology of designer babies, its benefits and harms, and discussing the possibility and future further development of designer babies. Background Information Definition The millennial generation is defined as the generation of children born between 1980 and 2000. This is the generation
Another important point consists in the type of cells that should be used in the pathology; for example, if the purpose is to assess the efficacy of stem cells treatment in a mouse model of spinal cord injury would be wise to use mouse stem cells in order to avoid an immuno suppression treatment. In this case the translation in clinical trial will need the verification of the characteristics of the human cells, and, in many cases, their use