2nd World Congress on Rare Diseases and Orphan Drugs June 29-30, 2017 London, UK

Rare Diseases associated with Pediatric Condition is an inherited, genetic condition. Patients have recurring fevers, which occurs almost daily with the disease development in Pediatric children. They also present with delayed development, skin rashes and unique and rare conditions in facial features such as thicker lips, swollen eyelids and eye balls. Children will develop swelling around the eye sockets, and also clubbing of fingers and toes and gradual enlargement of the liver and also growth of multiple cells. Over time there is a loss of muscle control and some wasting of brain tissue. The specific condition in which the heart muscles become diseased and the heart becomes enlarged and weak. Babies with the infantile form usually leading to death before their first birthday due to the rare condition in heart failure and respiratory weakness.

The regularity of rare diseases among adults individuals and elderly is not infrequent as the youngsters experiencing a specific unique disease and are under treatment may progress the same life long. Bringing focus on this zone of infections would be rapid and quicken the exploration and disease treatment and in this way would be effective in treating most extreme number of rare ailments. Studies have shown that 37.5% had ordinary lifespan, 25.7% potentially lethal during childbirth or before 5 years of age, 36.8% diminished lifespan.

Rare Oncology disease has a mandate to accost the recent challenges presented by rare cancers and diseases as well cancers that may be predominant in medically unreasonable populations. CCR investigators, both at the laboratory bench and in the clinic, are actively involved in this research studies.  In many cases, the knowledge CCR’s investigators gain from studying and treating rare cancer diseases and related disorders provides them with insights into the mechanisms that underlie other more common malignant syndromes.  It is very worthy consideration for oncologists to keep updated of the latest advancements in oncology, as changes in management of cancer are shown quite common. All eligible patients in whom cancer progresses and for whom no general of care treatment strategies are available should be enrolled in a clinical trial.

Ophthalmological Diseases in which Rare, inherited vision disorder in which an individual has frequent or no ability to see color. People with achromatopsia also generally experience some vision loss, especially in brightest light, to which they are extremely cause vision impairment. The severity of the disease achromatopsia varies different. Although there will be no cure or treatment for this disorder type, people with rare Ophthalmological conditions can manage its symptoms. The main thing they get involved as they can wear sunglasses or tinted contact lenses to cope with bright light. They can use magnifiers and other devices for low power vision to help them read, and telescopes to help them see distant objects. Since ophthalmologists perform operation to eyes, and also involving with both surgical and medical specialists to treat the rare conditions in eyes. A multitude of diseases and conditions can be diagnosed with rare eye problems effecting all over. 

The phrase metabolism related to all biochemical process and pathways in the human body. Catalysts assume a key part in a large number of these procedures and changes in their capacity, subsequently, of hereditary transformation can prompt issues in these pathways. Metabolic changes can give incredible assorted qualities of signs and manifestations like episodic illness-anorexia, vomiting, and gastric metabolic disorder, lethargy, cardiomyopathy, muscular, gastrointestinal. Drug treatment is utilized to treat metabolic rare conditions; however this represents a oversees challenge to community and hospital pharmacists as they are not accessible in an appropriate formulation for administration.

Genetic disorders may occur due to hereditary, passed down from the parents' genes. In other genetic disorders, defects may be caused by new mutations or changes to the DNA structure. In such cases, the defect will only be passed down if it occurs in the genetic line. The twin disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations changes in other people, and mainly by environmental causes in other people. A genetic disorder is a genetic problem caused by one or more rare abnormalities in the genome, especially a condition that is present from birth conditions (congenital). Most genetic disorders are often rare and affect one person in every several thousands or millions. A single-gene disorder is involving a single mutated genetic condition. Over 4000 human diseases are caused by single-gene faults. Single-gene disorders or syndromes can be passed on to subsequent generations in several ways. Genomic imprinting develops anduniparental disomic, however that may affect inheritance patterns. The rare divisions between recessive and dominant types are not quite even "hard and fast", although the divisions between autosomal associated with X-linked types are involving since the latter types are distinguished purely based on the chromosomal location of the gene.

Neurodevelopmental diseases conditions sare disabilities related essentially with the working of the neurological framework and cerebrum. While the symptoms and the behaviours of neurological disabilities change or develop contingent upon the array of rare disease, some disabilities are cannot be cured. Analysis and treatment of these disorders can be difficult; treatment may include a mix of professional therapeutic treatment, pharmaceuticals, and disease specific therapies.

The condition of rare lung disorders varies widely by disease type. Uncommon lung diseases affect at least 1 in every 200 persons. The lungs may also be getting involved as a rare manifestation of another more common disorder, namely Marfan syndrome. Some lung diseases are occurs in rare that they only have been described in case reports. The causes with pathophysiology of these diseases are varied in number and complex. Many have a genetic basis, and most diseases have genetic influence. The diseases and microorganisms may play a significant role, especially in those diseases in which the patient’s immune defense has been developed.

The Rare conditions in lung infections influence no less than 1 in each 200 people affecting with pulmonary rare diseases. The functioning of uncommon lung disorders fluctuating broadly by sickness sort. The lungs may likewise be included as a rare lung manifestation of another more basic disease condition. Some lung ailments are rare to the point that they just have been discussed in the event that reports. The causes and pathophysiology of these infections are different and complex. Numerous conditions have a hereditary basis, and most infections have genetic impact. The environment and micro bacterial diseases involving with the lungs may play a role, particularly in with those illnesses in which the patient's resistant barrier has been compromised.

Critical insights in the advancement of gene and cell therapeutic disorders have opened up the likelihood of durably treating and potentially curing a number of uncommon rare genetic diseases. The present therapeutic methodologies include gene and cell therapy: In gene therapy, a conveyance vehicle (as an engineered virus) will convey a right form of the gene of interest or will mute the diseased gene in a patient’s cells. In cell therapy, an engineered cell line is utilized to present appropriately genetic conditions in order to reflect the intended therapeutic impact. There are targeted therapies developed to treat cancer at the malignant cellular level by affecting the biologic pathways particular to cancerous cells. It was the consequence of many years of research seeking to implement the biological mechanisms of the disease.

Orphan drugs are considered to be medicinal products intended for the diagnosis, prevention or the treatment of rare diseases. Approval of all drugs in rare diseases conditions must be based on effectivenessof substantial evidence of effectiveness in treating or preventing the condition with the evidence of safety for the treatment use. Over the last decade of 30 years, more than 400 medicines representing 447 separate medicinal indications have been approved to treat conditions and diseases symptoms rare diseases, compared to lesser than 10 in the 1970s

There are many conditions affecting the human hematological system — the biological system that includes plasma, platelets, leukocytes, and erythrocytes, which the major component portions of blood and the bone marrow.  It also implies structural abnormalities in the globin proteins in rare hematlogical analysis. It also usually occurs in underproduction of normal globin proteins, often leads through mutations in regulatory genes. The two conditions may overlap, however, since some conditions which further causes of rare abnormalities in globin haematological proteins (hemoglobinopathy) also influence the production (thalassemia).Hemoglobin variants are a part of the normal embryonic and fetal development, but may also be pathologic mutant forms of hemoglobin, caused by variations in genetics diseases in rare conditions. Other variants cause no detectable pathology, and are thus considered non-pathological variants. In patients predisposed for rapid clearance of red blood cells, this may lead to early destroy of cells infected with the parasite and increasing the chance of survivasl for the carrier of the trait.

Rare diseases are often considered as difficult because of the rare conditions occurs. It’s impossible to prepare for every possible diagnosis, so many nurses further more learning about more common ailments in school and are expected to learn about rare diseases on the job. At times the patient might be the best source of information for the rare conditions to diagnose. Nurses already know that listening to the patient is an invaluable tool to the patients, but in the case of rare disease would be one of the only options available at the onset of care. Rare disease management helping out further for some nurses, however. There have been instances when a rare disease becomes more frequently examined and diagnosed, but nurses are in a unique wide position to advance the knowledge and awareness about rare disease due to their exposure and involvement in medicine.       

Diagnosis and the treatment of a rare disease become complicated because of the fact that many health care providers may have restricted involvement with the identification of the particular disease condition with the diagnosis of rare diseases. Additionally, analysis before manifestation onset or diagnosis early stage in the disease can be challenging. Biopharmaceutical specialists in the field have utilized new advances and the developing exploratory comprehension of multiple rare diseases to develop and diagnose ground breaking therapies over the last 10 years. In the last decade, more than 230 new orphan medical drugs were approved by the U.S. Food and Drug Administration (FDA). In 2015 alone, about half (47%) of novel latest drug approvals were for rare diseases. Disease specific therapies need to be developed for productive results in treatment of Rare Diseases.

The absence of lawful controls on treating the uncommon rare diseases in numerous nations in the world, because of patients and their families are getting affected with various diseases obstructions when requesting for professional help. The first country to pass and approve the Orphan Drug Act in USA, followed by Japan in 1993, and eventually the European Union in 2000. The absence of a special International Disease Classification about disease leading to the IDC blocks the usage of a framework for the patients who are experiencing these diseases in the world. The main motto is to focus on rare diseases from the aspect of acceptable strategies or unsatisfactory social results is of critical need. 

Resources needed to be conduct research experiments like databases, biological approach research centres, registries, diagnostic testing and associated with national and international epidemiological and pharma related field systems need to be improved at faster rate and should be emphasised. There are now involving 4,770 progressing research projects, barring clinical trials, covering numerous diseases and research on this area requires a multidisciplinary approach in order to discover creative therapies for the early diagnosis and treatment methods.  Not very many studies have been tending to the requirements of the pediatric population with rare diseases independently organizing from that of grown-ups. However, since about 50 to 75% of the rare diseases begin in childhood, these pediatric disorders deserve special priority.