6th International Conference on Rare Diseases and Orphan Drug

The truth about severe PTSD identification by brain marker is about to be revealed: Post-Traumatic Stress Disorder is an anxiety disorder that can develop in response to a stressful event or situation of exceptionally threatening or catastrophic nature. It usually develops followings a single episode of trauma . Patients have the capacity to forget but in complex PTSD case they will get flashbacks and nightmares associated with insomnia from time to time. It is associated with behavioural issues and reckless activities like binge eating, abnormal sexual activities and drug and alcohol abuse. Although its diagnostic features have been recently re-classified with the emergence of the Diagnostic and Statistical Manual for Mental Disorders, it remains characterized by hyperarousal, intrusive reminders of the trauma, prevention of trauma-related indications, and negative cognition and mood. This heterogeneity specifies the presence of multiple neurobiological mechanisms und...

The effect of sleep deprivation and disruption on DNA damage DNA damage and repair are dynamic processes that may be affected by various conditions and cellular events. Animal studies have shown that sleep loss can induce genetic damage in different organs. Sleep deprivation is known to induce oxidative stress, and there is increasing interest in genomic changes related to sleep deprivation. The way people’s genes work is altered when their body clock is interrupted. A study has shown that sleep deprivation does more harm to the human body, than imagined. According to it, sleep deprivation can affect our genes and lead to the destruction of our DNA. Damaged DNA amplified after only one night of sleep deprivation. According to the researchers, this damage may help illuminate the increased risk for cancer and cardiovascular, metabolic diseases as well as neurodegenerative disorders that are usually related with sleep deprivation. Although this work is very preliminary...

High Blood Sugar during pregnancy is related with congenital heart defects, which is one of the most Rare Cardiac Disorder . Congenital heart defects or diseases are the complications with the heart’s structure that are available during childbirth. They might change the normal flow of blood through the heart. These are the most widely recognized kind of birth defect. There are various types of congenital heart defects. The most well-known defects involve the inside walls of the heart, the valves of the heart, or the large blood vessels that carry blood to and from the heart. Particular defects require no treatment, but some require treatment soon after birth. Because analysis and treatment of congenital heart defects has developed, more babies are surviving and now many adults are living with congenital heart defects.           Congenital heart disease is the (CHD) consequence of a complex relations between genetic and non-genetic, o...

Chronic Kidney Disease Chronic Kidney Disease is a Rare Diseases of Genitourinary System , & type of slow and long term condition that damage kidneys and decrease their ability to keep healthy. It is also called as chronic renal failure or chronic kidney failure. It is a common condition often associated with getting older, although it’s more common in black people of south Asian origin.  The disease is called “chronic” because the damage of kidney happens slowly over a long period of time & also this damage can cause wastes to build up in body, which also can cause other health problems. Symptoms Signs and symptoms of chronic kidney disease grow over time if kidney damage progresses slowly. Signs and symptoms of this disease may include, ·         Sleep problems ·         Decreased Mental Sharpness ·         Swelling of feet and ankels · ...

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...