2^nd World Congress on Rare Diseases December 14-14, 2020 Singapore, Singapore

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. 

Infectious diseases mainly caused by bacteria, viruses, fungi or parasites. Many organisms live in and on our bodies. They are generally harmless or sometimes helpful. But under some conditions, organisms may cause disease. An infectious disease is also known as a transmissible disease or communicable disease that results from an infection. Infectious diseases when easily transmitted by contact with an ill person then they are called as contagious diseases.

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.

Rare diseases which affect children are called Rare Pediatric diseases; the causes for pediatric diseases may be different from one another. Some of the rare pediatric diseases are Congenital Heart Defects, Schnitzler Syndrome, Eisenmenger Syndrome, Agammaglobulinemia, Pediatric Severe Combined Immunodeficiency and Kawasaki Disease

Dermatology is the branch of medicine that deals with the skin problems. It involves both medical and surgical aspects. Dermatological Diseases includes common skin rashes to severe skin infections, which may occurs due to several things, such as infections, heat, allergens, system disorders and medications. Some rare skin diseases are

The branch of medicine concerned with the study of the cause, treatment and prevention of diseases related to blood is called haematology. The diseases or disorders which predominately affect the blood & blood-forming organs are called haematological diseases which include rare genetic disorders disease and complications from chemotherapy or transfusions. Some rare haematological diseases are:

Most of the rare diseases are having genetic origin. In divergence rare cancers are mainly acquired diseases. Multiple division of cells, leading to the formation of malignant tumour is called Cancer. There are various types of cancer, some of the rare cancer diseases are:

Progeria is an extremely rare genetic disorder in which symptoms having similar resemblance with respect to aging. People with progeria typically live between mid-teens to early twenties. It is a genetic condition which occurs as a new mutation, and is often inherited. The term progeria is related to all diseases characterized by premature aging symptoms. The premature symptoms may include:

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.

The study related to endocrine system is endocrinology, endocrine system that controls hormones. Rare metabolic disorders are mainly caused due to imbalance in endocrine system and its related hormones. Treatment of rare endocrine disorder is include specific symptoms that are perceptible in each individual and include surgery and drugs to counteract the disorders. Certain therapeutic procedures and arbitrations may vary depending upon particular disease. In most of the cases, there is no approved treatment for many rare endocrine diseases. In many cases, treatment is targeted towards specific symptoms.

The gastrointestinal diseases are those which affect the GI tract including colon and rectum. One of the rare diseases is Menetrier disease which is characterized by massive overgrowth of mucous cells in the mucous membrane that lines the stomach, resulting in large gastric folds. The symptoms associated with Menetrier disease is pain in the upper middle region of the stomach. Less frequent symptoms include nausea, vomiting, and diarrhoea. In some cases, weight reduction and loss of appetite may also occur. The cause of Menetrier disease is unknown. There will be minimal or no stomach inflammation in Menetrier disease.

Immune system involves collection of structures and processes within the body to protect against disease or foreign bodies. Immune disease is a dysfunction of immune system. During its proper functioning, the immune system identifies a variance of threats including viruses, bacteria and parasites and discriminate them from the body's own healthy tissue. Allergic diseases such as allergic rhinitis, asthma and eczema are common immune diseases. Rare immune diseases include:

Rare autoimmune diseases are those which affect body's immune system and attacks healthy cells. An autoimmune disease is a condition that emerges from an abnormal immune response to a normal body part and any body part can be involved. Immune system release proteins called autoantibodies which strike healthy cells. Common symptoms include low-grade fever, feeling tired, fatigue, skin infections and swelling. Symptoms may often come and go. The period when the symptoms go away is called remission.

There are approximately 7,000 rare diseases. Such rare diseases generally have a genetic basis, frequently affecting patients in childhood, and are often progressive and life threatening in nature. These characteristics can have highly destructive psychological impact on children suffering from these diseases. The major challenge for R&D is to look after the impact of unique characteristics of the rare disease patients on clinical development process and the interface between clinical development and the regulatory process. A fundamental challenge in drug development for rare diseases is that there is relatively little known about the pathophysiology of disease. In addition to these challenges, for most of the rare diseases there are no available therapies.

Clinical investigators in rare disease research regularly face challenges distinct to the study of uncommon disorders. Rare diseases often provide opportunities to study human physiology and biomedical science from distinctive perspectives. It is estimated that over 7000 rare diseases affect an estimated 25-30 million people with a rare disease (8-12% of population). The Orphan Drug Act was approved in 1983 to provide funds that encourage developing optimistic drugs to treat, prevent, or diagnose rare diseases or conditions affecting less than 200,000 persons. The scientific methodology and logistics of clinical research for rare diseases have changed drastically in the past two decades. Understanding pathophysiology of the disease has been increased and many new treatments have been developed.

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.

Over 6000 different rare diseases have been identified till date, affecting the daily life of more than 30 million people. The complex nature of rare diseases, accompany with limited approach to treatment and services. Many rare diseases have no cure, so living with a rare disease is an ongoing learning process for patients and families. Typically life threatening, chronic and debilitating, rare diseases have enormous consequences for the whole family. Though the names of the disease and symptoms may be different but rare diseases impact the daily lives of patients and families in close ways.

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%.

The rare diseases research had reached a critical phase. The diseases could be diagnosed, and new treatments were successfully evolved and approved, and improvements in quantity and quality of life achieved. 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 infectious diseases are crucial as many patients still need proper diagnosis and left without compelling medications; it is also a 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 diagnostics.

Case Report is a detailed report of various symptoms, signs, diagnosis and treatment, and also a follow-up of an individual patient.  Major scientific breakthroughs ensuing from investigation of rare diseases have usually provided insight into a lot of common disorders. The satisfaction of diagnosis a patient with a rare disorder with success is commonly chop-chop countered by the conclusion that the flexibility to know and treat the patient’s condition is restricted by mental object and also the difficulties of finding out the malady. Maybe the foremost frequent downside is that the enlisting of a requisite variety of study subjects for Associate in Nursing data-based cohort or a run. This would like needs the creation of multi-institutional and international collaborations to conduct clinical investigation in rare diseases.