6th International Conference on Rare Diseases and Orphan Drug

Idiopathic Pulmonary Fibrosis (IPF) The word “Idiopathic” refers to “of unknown cause” so idiopathic pulmonary fibrosis is one of a Rare Pulmonary Diseases , fibrosis of the lungs without known cause. It is a syndrome of radiologic, pathologic and clinical features of advanced interstitial pulmonary fibrosis and respiratory failure without known cause. It is associated with a histological pattern of usual interstitial pneumonia . It mostly affects middle- aged and older adults and there is no cure. The progress of disease varies from person to person. Causes The main Cause of Idiopathic Pulmonary Fibrosis is when people are exposed to something in their environment, for example, certain medicines, or an infection. Sometimes, it runs in family. Followings are the causes of IPF, ·          Smoke Cigarettes ·          Breathe in wood or metal dust at work or at home ·          Have acid reflux diseases ·          Viral Infections Symptoms Followings are the

Myelofibrosis Drug can awaken ‘dormant’ lymphomas in the bone marrow Myelofibrosis, a Rare Haematological Diseases of the haematopoietic cells of the bone marrow. It disrupts body's normal production of blood cells. This result an extensive damaging in bone marrow, leading to severe anemia, weakness, fatigue and often an enlarged spleen. It is also an uncommon type of chronic leukemia — a cancer that affects the blood-forming tissues in the body. Myelofibrosis belongs to a group of diseases called myeloproliferative disorders. Symptoms Myelofibrosis ordinarily develops gradually. In its beginning times, numerous individuals don't experience signs or symptoms. As interruption of ordinary blood cell production increases, signs and symptoms may include: ·          Feeling tired, weak or short of breath, generally because of anemia ·          Pain or plumpness under your ribs on the left side, due to an expanded spleen ·          Easy bruising ·         

Hutchinson-Gilford Progeria Syndrome  One of the most Rare Paediatric disease , Hutchinson-Gilford Progeria syndrome is a rare fatal genetic progressive that causes a person to age prematurely. Children with progeria seem healthy, but by the age of 2 years, they look as if they have turned out to be old too fast. It is additionally a Classic “accelerated aging disease”, not caused by defective DNA repair. It is affected by a tiny, point mutation in a single gene, identified as Lamin A(LMNA). The signs closely look like aging and include wrinkles, hair loss and delayed growth. As the individual ages, progeria turns out to be more severe with an average life expectancy of 12 years. Cause Progeria is caused by mutation in the LMNA gene. The LMNA gene provides information for production a protein named lamin A. This protein plays an vital role in defining the shape of the nucleus within cells. It is an critical scaffolding (supporting) element of the nuclear env