Rare Diseases Congress 2018

                          Undiagnosed Rare Disease  Undiagnosed’ refers to a disease for which a diagnostic test isn't however accessible; the disease has not been characterised and the cause isn't however recognized. This patient can also be misdiagnosed as the condition can be mistaken for others. These conditions are too likely to be rare. Rare diseases affect an estimated 2-4% of the population. A likely next step is whole genome sequencing, a diagnostic technique that over the last decade has significantly bolstered the effort to identify undiscovered diseases. A different approach is to search for patients with similar hereditary abnormalities and similar side effects. Determining the cause of a disease is often a victory in its own right for people who’ve spent years trying to figure out what’s wrong with their bodies. For awareness among people we celebrated Rare undiagnosed Day on April 29 th each year. Its objective: to raise awareness for those l

                                           Rare Autoimmune Diseases   The autoimmune diseases known to exist, it could be said that the majority of them are considered uncommon, which unfortunately also means there's relatively small information out there reporting exactly how rare. Other immune system infections, such as Sjogren’s syndrome, systemic vasculitis, vasculitis limited to the skin, systemic sclerosis, polymyositis/dermatomyositis, and other systemic inclusion of connective tissue, are generally uncommon in ladies of childbearing age. Connective tissue diseases are disorders featuring abnormalities including the collagen and elastin. Connective tissue infections are frequently characterized by a variety of immune abnormalities that are common for each particular sort of illness. Mixed connective tissue disease (MTCD) is a rare inflammatory rheumatic disease. MCTD may be a particular subset of the broader category “overlap syndromes”, a term utilized to por

                                     Naegleriasis - Brain-eating amoeba  Naegleriasis is also known as Primary amebic meningoencephalitis (PAM). PAM is caused by the free-living amoeba Naegleria fowleri and occurs most commonly in healthy children and young adults with recent recreational freshwater exposure, which is ordinarily lethal. Transcendently living in the freshwater lakes, streams and warm waters of the hot springs, it can get into the body through the nose, when the contaminated water is persuasively aspirated during swimming or other water sports like diving, skiing etc. In spite of the fact that contamination occurs rarely, it nearly always results in death with a case fatality rate greater than 95%. The rarity of the disease makes it difficult to diagnose Naegleriasis in the starting stages. Almost 75% of individuals with the infection are diagnosed only after their death. The most common strategies utilized to identify changes in the human brain ar

                                                           Vanishing bone disease Rare bone disease called Gorham-Stout disease, In which patients experience abnormal development of blood vessels and lymphatic vessels that overwhelm and penetrate bone tissue, gigantic osteolysis, and more than a half-dozen other terms in the medical literature, is a uncommon bone disorder characterized by osteolysis and the proliferation of lymphatic vessels, Causing it to break down, also known as "vanishing bone disease," and it's an extremely rare condition. Gorham disease is thought to be non-hereditary and there is no perceived gender preference. It can possibly happen in any age group although most reported cases have been in youthful adults. When GSD affects the maxillofacial area, pain, loose teeth, fractures and facial distortion may develop. The exact cause of GSD is obscure. No environmental, immunological or hereditary risk factors have been distinguished. Mos