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 ·    ...

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 ...

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 t...

Gigantism Gigantism also called gigantism obtained from a Greek word gigas, is a Rare Endocrine Diseases characterized by excessive growth hormone which accelerates the growth of muscle, bones and connective tissue in childhood or youth before the end of puberty. It is always the consequence of a growth hormone secreting pituitary tumour. When left untreated or uncontrolled, some individuals suffering from gigantism have grown in excess of eight feet (2.4 m) tall. The most well-known example is that of Robert Wadlow, the tallest person in history. Cause Most common reason of gigantism is Pituitary gland tumor . The pea sized pituitary gland is located at the base of the brain; it makes hormones that control body temperature, metabolism growth, sexual development and urine production. Some other cause of gigantism is: ·          McCune-Albright disease is a disorder that causes unusual growth of bone tissues, gland irregu...

Cri du chat syndrome, also known as 5p minus  / 5p deletion syndrome or Lejeune syndrome, which is a type of rare genetic disorder . It is originated from a French term cat which means cry or call of the cat, referring to the characteristic cat like cry of affected children. This disorder is characterized by intellectual disability and late growth, low birth weight, little head measure, weak muscle tone in early stages and typical facial features. While it is a hereditary condition, most cases are not acquired. It is found in all ethnic backgrounds and is more common in females by 4:3 ratios. Jerome Lejeune, a geneticist, was discovered this in 1963. In 80% of the cases, the affected chromosome comes from the father’s sperm rather than the mother’s egg. Cause Cri du chat is one of the most common syndromes caused by deletion of the short arm of chromosome 5. This chromosomal change is written as 5p-. The size of deletion varies among affected individuals. It is possib...

Prostate cancer is a type of Rare Oncology Disease , caused by mutations in your DNA, or genetic material, lead to the growth of cancerous cells. DNA is the biological in our cells that makes up our genes. Our genes regulate our cells function. These mutations cause cells in your prostate to start growing uncontrollably and unusually. Abnormal or cancerous cells continue to grow and divide until a tumour develops. Symptoms Due to the closeness of the prostate gland in relation to the bladder and urethra,  prostate cancer  may be accompanied by a variety of urinary symptoms. Some prostate cancer signs related to urination include: §   Burning or pain during urination §   Difficulty urinating, or trouble starting and stopping while urinating §   More frequent urges to urinate at night §   Loss of bladder control §   Decreased flow or velocity of urine stream §   Blood in urine (hematuria) Prostate cancer might spread...