11^th International Conference on Rare Diseases and Orphan Drugs November 25-26, 2020 Tokyo, Japan

Rare Obesity can be preventable through a combination of social changes and personal choices. Diet plan and exercising are the main treatments. Diet quality can be improved by doing less consumption of energy-dense foods, such as those high in fat or sugars, and by increasing the intake of Fibrous food and rich in all type of protein.  Various ways can be adopted to reduce appetite or decrease fat absorption by Medications, along with a suitable diet. If these ways such as diet, exercise, and medication are not effective, a gastric balloon or surgery may be performed to reduce stomach volume or length of the intestines, leading to feeling full earlier or reduce the ability to absorb nutrients from food. Disorders can be present at birth, and many can be identified by routine screening of the body. If a metabolic disorder is not identified in the early stage, then it may be diagnosed later in life, when symptoms appear. The genetic metabolic disorders can be diagnosed by specific blood and DNA test. The gut micro biota, which is a population of microorganisms that live in the human digestive track, also has an important part in metabolism and generally has a positive function for its host where they live. In terms of pathophysiological/mechanism interactions, the abnormal gut micro biome can play a role in metabolic disorder related to obesity

Gene Therapy is mainly involves the introduction or alteration of genetic material within a cell or organism with an intention of curing the disease. Both gene therapy and cell therapy are overlapping fields of biomedical research with the goals of repairing the direct cause of Genetic diseases in DNA or cellular population respectively, the discovery of  in the 1970s provided tools to develop gene therapy efficiently. Scientists use these techniques to readily manipulate viral genomes, isolate genes and identify mutations involved in human diseases, characterize and regulate gene expressions, and engineer various non- viral and viral vectors. Various long-term treatments for anaemia, haemophilia, cystic fibrosis, muscular dystrophy, Gauscher’s disease, lysosome storage diseases, , diabetes and diseases of bones and joints are resolved through successful gene therapy.

 Rare Neurological disorder are the diseases associated with the spine, brain and the nerves that connect them. It affects the body nervous system. Aicardi-Goutieres, Reflex Sympathetic Dystrophy, Acarida syndrome are few rare specified neurological disorders to specify. The  affected by Rare Neurological Disorders usually develops in infancy and is inherited in an autosomal recessive manner. There are various kinds of symptoms which are categorized in three main stages that provide a general basis for diagnosing individuals with LS. The symptoms of the stage I are characterised as stunted growth, vomiting, and diarrhoea.  Symptoms exhibited in stage II are example such as optic atrophy, uncoordinated movement, dystonia, hypotonic, and peripheral . The symptoms of stage III are dysarthria, acute muscle and dysphagia, atrophy is common, with death being the outcome. It is necessary to study the physiological defects of brain and muscle structures in LS for proper diagnosis and treatment.

Allergic is one of the most adverse immune reaction faced by worldwide   population which is next accompanied by inflammation. The set of conditions caused by Hypersensitivity reactions of the  in response to any foreign substance is called allergy/ allergic diseases. It may arise due to environmental or genetic factors. The causative agents are known as allergen and they may be food, drug, dust, pollen, animal dander &fur etc. varying for each individual. Most allergen immunotherapies  are the advanced therapeutics method to treat the allergies. Allergic and Inflammatory Reactions are caused by the immune system but if the reaction becomes adverse then the condition becomes chronic for an individual. The causative agents for such adverse reactions could be genetic, environmental, pathogenic and synthetic compounds. The localized body part which gets hot, swollen, red and painful after an injury or infection is an condition termed as  and it might be due to allergy: Allergic inflammation or due to tumour. Inflammation can be   chronic or acute and it consists of different types based on the part of inflammation.

The field of rare diseases is complex and heterogeneous and suffers from a deficit of scientific and medical knowledge .The landscape of rare disease is constant evolving the new rare diseases and conditions being reported and identified regularly in medical literature. Apart from a few rare diseases  where significant progress has been made, still the field is nascent stage. For a long time, doctors, researchers and policy makers were unaware of rare diseases and until very recently no real research or public health policy concerning issues related to the field .This posses challenges in development of comprehended policy on rare diseases. Nevertheless, it is important to take step, in the short as well as long term, with the objective of talking rare diseases in a comprehensive and holistic manner.

Rare diseases affect an estimated 2-4% of the population. A likely next step is whole genome sequencing, a diagnostic technique that over the last decade has significantly bolstered the effort to identify undiscovered diseases. A different approach is to search for patients with similar hereditary abnormalities and similar side effects. Determining the cause of a malady is often a victory in its own right for people who’ve spent years trying to figure out what’s wrong with their bodies.

Rare diseases give the opportunities to study human physiology and biomedical science from interesting perspectives. Major scientific breakthroughs resulting from study of rare diseases. Researchers are increasingly working through networks in order to share the results of their research and to advance more effectively. The satisfaction of diagnosing a patient with a rare disorder successfully is often rapidly countered by the realization that the capacity to understand and treat the patient’s condition is limited by ignorance and the difficulties of studying the disease. An orphan drug is a medicinal product developed for the treatment of rare diseases. For all rare diseases, science can provide some answers.  

Both national and international association have been made in later years to inform and defend patients affected by these disorders. Rare infections occurs due to changes in the immune system represent a field of medical science of great interest that is undergoing continuous expansion; these disorders have an incredible social and economic impact because they often affect young or very young people at the height of their social activities and relationships. Achondroplasia is a disorder of bone growth that prevents the changing of cartilage to bone. It is characterized by dwarfism, limited range of motion at the elbows, and normal intelligence. Most cases of achondroplasia are not inherited. Approximately 80% of people who have achondroplasia have parents with normal stature and are born with the condition as a result of a new gene alteration. Each person with Achondroplasia has a 50% chance, with each pregnancy, to pass on the changed quality.

Most of the diseases influences the skin begin within the layers of the skin, such abnormalities are also important factors in the diagnosis of a variety of internal diseases. The skin has an inherent region-specific anatomical diversity which will profoundly modify the appearance of a rash. This is apparent when skin transplanted from one area of the body to another retains the morphological characteristics of the donor area. The classification of hereditary skin disorders generally has been based upon gross morphological, histological and electron microscopic findings; however, because a skin disease may not always have a characteristic presentation, the specific diagnosis sometimes has been in doubt. For example Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Making a diagnosis for a rare or genetic disease can often be challenging.

 A rare disease is a sickness that influences a really less variety of the population. Rare sicknesses embody rare cancers like childhood cancers and many different well-known conditions, like {cystic fibrosis| CF| fibrocystic sickness of the pancreas fibrosis| mucoviscidosis | fibrosis |monogenic disorder |monogenic disease} and Huntington’s disease. The overwhelming majority of rare infections will effect far less than this – many can have an effect on solely one or two or maybe one individual. This is often the case of hypochromic anaemia, anaemia of genetic origin that is rare in geographical region; however it's frequent within the Mediterranean region. Several rare diseases seem early in life. The precise explanation for several rare diseases remains unknown. However Environmental factors, microorganism infections, genetic mutations, diet, smoking, or exposure to chemicals, can also play a job in rare diseases.

There are many rare endocrine system diseases. Addison's infection is extremely uncommon. . As per the National Organizing of welfare, over a hundred seventy five distinct rare diseases have an effect on the endocrine system, a complex system of organs and glands that employs around thirty distinctive hormones to influence a variety of important functions together with growth, metabolism, heart operate, and fertility. Rare endocrine diseases will doubtless have an effect on any organ system, however.

Rare pediatric diseases may be a serious or life-threatening disease, have an effect on folks aged from birth to eighteen years, as well as age teams typically referred to as neonates, infants, children, and adolescents. Achondrogenesis is one in all the cases of medicine rare diseases. medicine rare diseases have received raised attention in recent years because of larger public awareness, considerably improved understanding and treatment of the comparatively a lot of common disorders, elimination of nutritionary deficiencies and also the development of laws associated with the treatment of rare diseases.

Neglected tropical diseases area unit a bunch of parasitic and microorganism infections that have an effect on quite together with one billion folks and price developing economies billions of bucks annually, 836 million kids. {They area unit they’re} as frequently as potential clustered along topographically and other people are routinely afflicted with quite one parasite or contamination. Victorious management will be accomplished once chosen open welfare approaches area unit combined and passed on domestically. Trade area unit guided by the local epidemiology and therefore the accessibility of fitting measures to acknowledge, expect and management maladies. Varied discharged tropical maladies will be expected, disposed of or so dismantled with created strides get to existing secure and cost-efficient gadgets. Management depends on simple mediations which will be disbursed by non-specialists too.

There are a unit varied totally different causes of rare diseases. The larger half is assumed to be hereditary, directly caused by changes in genes or chromosomes. in a very few cases, genetic changes that cause disease area unit passed from one generation to subsequent. In alternative cases, they occur at random in a very one who is that the primary in a very family to be diagnosed. These diseases have terrible names. Typically they're even unidentified. Thanks to the dearth of investment in analysis, we tend to area unit still new with the causes or parts of most of the rare genetic diseases scientifically known to exist. Body disorders area unit of 2 sorts numerical and structural. In some cases, body abnormalities happen throughout the event of Associate in Nursing egg or spermatozoon, and alternative times they happen when conception. Body disorders are also suspected in those that have organic process delays, intellectual disabilities and/or physical abnormalities.

Many terms square measure ordinarily employed in describing the infectious diseases. Disease refers to the presence of pathology associate degree associate degree communicable disease is an infection caused by a organism. Virulence may be a term pertaining to the ability of associate degree organism to provide disease during a explicit host. Immunity refers to the degree of resistance of the host for a selected germ. Several infectious maladies, like morbidly and varicella, may be anticipated by vaccines. Infectious diseases will cause several distinctive symptoms. Some square measure therefore delicate that you just might not even notice any facet effects, whereas others may be grievous. There square measure medicines for a couple of infectious diseases, except for others, like a couple of viruses, you'll solely treat your symptoms. You’ll take steps to forestall several infectious maladies. There square measure various distinctive ways in which you'll get associate degree communicable disease as an example – through insect or animal bites, contaminated food, and water. Pregnant mothers will too pass some germs on to their babies; the infectious diseases square measure typically characterised by the dominant organ system concerned.

Drugs that aren't developed by the pharmaceutical business for economic reasons however that answer public health want. Orphan drugs' area unit supposed to treat diseases therefore rare that sponsors area unit reluctant to develop them below regular promoting conditions. the method from the invention of a replacement molecule to its promoting is long, high-priced and really unsure. Developing a drug expecting to treat a rare sickness doesn't permit the recovery of the capital invested with for its analysis.

Focusing inside the coordination between medical, social and support services so as to handle the challenges that individuals living with a rare disease and their families round the world confront every day. Although rare disease patients and their families face several challenges, huge progress is being created daily. Most rare diseases don't have any cure; therefore living with a rare infection is associate degree on-going learning expertise for patients and families. Day-by-day, hand-in-hand, along we tend to gift a united voice to advocate for the treatments, care, resources and services we tend to all would like. Managing these care-related tasks aboard their usual daily activities like work, faculty and time off are often difficult.

Due to the rarity and variations of rare infections, analysis must be worldwide to ensure that specialists, researchers, and clinicians area unit connected, that clinical trials area unit international which patients will like the pooling of resources over borders. It’s still a reality for rare sickness patients to pay a protracted time inside the health care system before a precise conclusion is created. Analysis in rare infections is crucial as several patients still want correct diagnosing and left while not compelling drugs; it's additionally a part wherever experience is additionally rare. Additionally, analysis during this region is exceptionally vital from the scientific purpose of reckon rare diseases area unit model diseases for a lot of common disorders and area unit robust drivers of innovation. Next-generation sequencing and progressed data sharing has resulted within the quicker discovery of gene-disease and so medical specialty.