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2nd World Congress on Rare Diseases, will be organized around the theme “Recent Innovations and Treatments of Rare Diseases”

WORLD RARE DISEASES 2021 is comprised of keynote and speakers sessions on latest cutting edge research designed to offer comprehensive global discussions that address current issues in WORLD RARE DISEASES 2021

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Rare disease is any disease that influences a very less number of the population. Rare illnesses include rare cancers such as childhood cancers and a few other well-known conditions, such as cystic fibrosis and Huntington’s disease. The vast majority of rare infections will affect far less than this – a few will affect only a handful, or even a single individual. This is the case of thalassemia, anaemia of genetic origin, which is rare in Northern Europe, but it is frequent in the Mediterranean region. Many rare diseases appear early in life. The exact cause for many rare diseases remains unknown. But Environmental factors, viral infections, genetic mutations, diet, smoking, or exposure to chemicals, also can play a role in rare diseases.

Many terms are normally used in describing the infectious diseases.  Disease refers to the presence of pathology and an infectious disease is an infection caused by a microorganism. Virulence is a term referring to the power of an organism to produce disease in a particular host. Immunity refers to the degree of resistance of the host for a specific microbe.  Many infectious maladies, such as measles and chickenpox, can be anticipated by vaccines. Infectious diseases can cause many distinctive symptoms. Some are so mild that you may not even notice any side effects, while others can be life-threatening. There are medicines for a few infectious diseases, but for others, such as a few viruses, you can only treat your symptoms. You can take steps to prevent many infectious maladies. There are numerous distinctive ways that you can get an infectious disease for example – through insect or animal bites, contaminated food, and water. Pregnant mothers can too pass some germs along to their babies; the infectious diseases are usually characterized by the dominant organ system involved.

Rare cancers affect a very little number of people. A cancer might also be considered rare if it starts in an unusual place in the body. Or if the cancer is an unusual type and needs special treatment, caused by chromosomal abnormalities that occurs spontaneously. Specialists aren't sure what causes the mutation. Many people don't develop symptoms until later stages and the diagnosis is only made through routine blood work. When symptoms do happen, they include bleeding easily, feeling run down or tired, weight loss, pale skin and night sweats. These diseases can damage the bones, immune system, kidneys and red blood cell count.

Gene therapy is one of the logical ways to treat rare genetic disorders; restore a single gene defect by introducing a 'correct' gene as 80% of the rare diseases are caused by single gene and gene therapy has the potential to cure cardinal genetic defects. Additionally, successful gene therapy may require single dose for the lifelong improvement. Using of antisense therapeutics is another way of treating rare diseases and it is a RNA based drug delivery. Cell therapy is the other technique for treating rare diseases where viable cells are injected into the patient for medicinal effect.

  • Rexin G
  • Carmustine
  • Nanotechnology and Nano-medicine

Rare pediatric diseases is a serious or life-threatening disease,  affect people aged from birth to 18 years, including age groups often called neonates, infants, children, and adolescents. Achondrogenesis is one of the cases of pediatric rare diseases. Pediatric rare diseases have received increased attention in recent years due to greater public awareness, significantly improved understanding and treatment of the relatively more common disorders, elimination of nutritional deficiencies and the development of laws related to the treatment of rare diseases.

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.

Brain diseases are mainly related to modification of brain function or structure. This is mainly due to infection, tumour and stroke, memory loss, personality change and seizures. Creutzfeldt-Jakob disease (CJD) is one of the rare degenerative brain disorder distinguished by development of rapidly progressive neurological and neuromuscular symptoms. After the onset of symptoms, affected people may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses it results in vascular dementia, resulting in confusion and disorientation. Later stages of the disease may result in further loss of physical and intellectual functions like unconsciousness and infections of the respiratory tract like pneumonia.

  • Gerstmann-Straussler-Scheinker disease
  • Amyotrophic lateral sclerosis
  • Creutzfeldt-jakob disease

Rare genetic diseases are caused by one or more abnormalities in the genome. It may be caused due to mutation in a single gene or multiple genes. However, there are no known treatments for genetic disorders. Many genetic disorders influence stages of development like Down syndrome, while others result in physical symptoms such as muscular dystrophy. Due to the wide range of genetic disorders, diagnosis is widely varied and depending on the disorder. Gene therapy refers to one of the treatment where a healthy gene is introduced to a patient. This should reduce the defect caused by a faulty gene or slow the progression of the disease

  • Albinism
  • Angelman syndrome

Rare hematology diseases fall into various subcategories, including anemia-type red blood cell conditions (e.g. sickle cell beta thalassemia, Diamond-Blackfan anemia), white blood cell dysfunctions related with different malignancies ,immuno- platelet-based abnormalities that influence platelet and plasma cell disorder. Some rare blood disorders especially those that are gene-based are simple to distinguish with a basic test, whereas others require significant investigator work to effectively analyze. Due to the expansive number of blood conditions common and exceptional, haematologists tend to be gifted agents since they got to be pros in differential conclusion.

Due to the rarity and differences of rare infections, research needs to be worldwide to guarantee that specialists, researchers and clinicians are connected, that clinical trials are multinational and that patients can benefit from the pooling of resources over borders. It is still a reality for rare disease patients to spend a long time within the health care system before an exact conclusion is made. Research in rare infections is crucial as many patients still need proper diagnosis and left without compelling medications; it is also an region where expertise is also rare. In addition, research in this region is exceptionally significant from the scientific point of view as rare diseases are model diseases for more common disorders and are strong drivers of innovation. Next-generation sequencing and progressed information sharing have resulted in faster discovery of gene disease and thus diagnostics.

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.

Orphan drugs are the medicinal products used to treat rare diseases or rare disorders and intended for the treatment, prevention or diagnosis of a rare disease or condition Because of their limited market they are called “orphan drugs”. An orphan disease is defined as that affects less than 200,000 people nationwide. Most of the orphan diseases are with a genetic basis. One out of 15 persons worldwide could be affected by orphan disease 

There are many rare endocrine system diseases. Addison's infection is very uncommon. . According to the National Organizing of Wellbeing, more than 175 distinct rare diseases affect the endocrine system, a complex system of organs and glands that employs around 30 distinctive hormones to influence a range of vital functions including growth, metabolism, heart function, and fertility. Rare endocrine diseases can potentially affect any organ system, however.

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. 

Rare diseases affect almost 2-4% of the population. It mainly affects children between the age of 3-5 years. Mystery diagnosis for rare diseases is whole genome sequencing, as 80% of the rare diseases are genetic in nature thus genome sequencing based diagnosis provides an optimistic alternative foe rare disease management. Genome sequencing can be used for rare and undiagnosed disease research to locate causative variants of inherited disorders by assessing many genes yielding a diagnostic rate of 62.5%.

  • Mystery illness program
  • Rarity of the condition or disease

Neglected tropical diseases are a bunch of parasitic and bacterial infections that affect more than including 1 billion people and cost developing economies billions of dollars each year, 836 million children. They are as regularly as possible clustered together topographically and people are habitually afflicted with more than one parasite or contamination. Successful control can be accomplished when chosen open wellbeing approaches are combined and passed on locally. Trade are guided by the local epidemiology and the accessibility of fitting measures to recognize, expect and control maladies. Various dismissed tropical maladies can be expected, disposed of or indeed demolished with made strides get to to existing secure and cost-effective gadgets. Control depends on straightforward mediations that can be carried out by non-specialists too.