Rare Diseases Congress 2018

                            Q fever – Query fever   Q fever is an uncommon bacterial infection transmitted from animals to people. It can be acute or chronic, and the chronic type can be fatal. Q fever, also called query fever, is caused by the microbes Coxiella burnetii. The bacteria are most commonly found in cattle, sheep, and goats around the world. More serious or chronic shapes of Q fever can be treated with antibiotics. Those at risk for Q fever can prevent the illness by disinfecting sullied regions and washing their hands thoroughly. The highest amounts of microbes are found in the "birth products" (placenta, amniotic fluid) of infected animals. Transplant recipients, patients with cancer, and patients with chronic kidney disease are at increased risk of creating chronic Q fever. Symptoms do not promptly recommend the conclusion of Q fever. The infection may cause mild symptoms similar to the f...

                             Pfeiffer syndrome: premature fusing of the skull As a baby develops in the womb, the cranium bones fuse together. In Pfeiffer syndrome, these bones combine too early. Pfeiffer disorder is an autosomal dominant condition classically combining craniosynostosis with advanced anomalies of the hands and feet. The cause of Pfeiffer disorder is a transformation of the genes capable for pre-birth bone development. This mutation speeds up bone development, causing the skull to fuse prematurely. Three forms of Pfeiffer disorder are recognized, of which types II and III are the more severe. Most affected people also have differences to their midface and conductive hearing loss. Treatment starts at birth once an accurate diagnosis is made. No medications can invert Pfeiffer disorder, but treatment can manage particular side effects of this condition. Typically, a child's skull bones ...

Transitioning from Childhood to Adulthood with Cystic Fibrosis Currently, almost 50% of all patients with cystic fibrosis are more established than 18 however changing from youth and puberty to adulthood may not be simple. Youth is itself a confused time with various changes. On account of CF patients, every one of these progressions should be adjusted with side effects, medicines, considers, work, family, feelings, and social life.  “The psychosocial and mental side of cystic fibrosis in youths and grown-ups” exhibit that the mental and psychosocial functioning of individuals with cystic fibrosis is like that of well people - until the diseases become severe. However, there is also prove that patients do endure an improved probability of mental issues, for example, depression, and of scoring ineffectively on physical working measures of personal satisfaction. The ascent in side effects is joined by the change toward dealing with their own particular medicines. Pati...

                                                Progeria – Old before time Genetic disorders are result from an alteration in the DNA sequence. Most genetic disorders are caused by multifactorial means, involving a combination of genetic and environmental factors. Thousands of human diseases are now known to be caused by single gene disorders and chromosomal abnormalities. 80% of rare disorders are genetic, and thus are present throughout a person’s life, even if symptoms do not immediately appear. Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the Research Institute. It is caused by a hereditary abnormality but is usually not inherited. Progeria is an extremely  rare  disease caused by abnormalities in the production of the progerin protein. Protein biomarkers...

                     Rare Diseases : The new era of research Rare diseases are very poorly understood, so there is need to increase awareness, there is need to understand them better and there is a very large unmet need to develop therapies for these diseases. When it comes to rare disease research, finding a new treatment for these disorders is a complex undertaking. It often involves a sizable investment in research, and years of clinical trials. Most rare disorders are genetic disorders; others are rare tumors, auto-immune diseases, congenital malformations, infectious diseases, i ntoxications and neglected tropical diseases. While signs might be identified during adolescence, more than half of uncommon diseases appear during adulthood and are frequently life-threatening.   It is believed that several rare diseases are caused by hereditary changes in the small piece of the DNA that code for proteins, ...