11^th World Congress on Rare Diseases and Orphan Drugs September 06-07, 2021 Berlin, Germany

The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due to the huge variability in the disease's expression. However, a correct estimation of the epidemiology of rare disorders is necessary for evaluating the prognosis and the responses to new therapies, for planning proper public health services, and finally to establish fair and sustainable prices for innovative medicines. The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens.

Many rare diseases affect the kidneys and the urinary system, some limited to the urinary system itself (e.g., membranous nephropathy), and some part of a condition (e.g., AL port syndrome) that causes additional symptoms in other organ systems. With varying degrees of severity, these diseases can affect different parts of the urinary system (kidney glomerulus, kidney tubules, urinary tract, etc.) causing numerous symptoms. Several of these diseases occur in the context of inflammation and autoimmune disease (e.g., Good pasture syndrome). Many rare types of vasculitis can also cause major kidney problems (e.g., Henoch-Schönlein purpura nephritis). Disorders of kidney development, kidney metabolism, or substance transport within the kidney also exist. Some are directly heritable diseases caused by genetic defects (e.g., cystinuria). Rare diseases can cause acute kidney damage (which may be repairable), but more often result in chronic kidney disease.

Skin disorders differ significantly in indications and brutality. Rare skin diseases are mostly genetic. Genodermatoses are genetic skin disorders with cutaneous expression.  The Genodermatoses & Rare Skin Diseases therapeutic centres targeted mainly genodermatoses with a high effect on quality of life of patients and of their families and leading to a huge social handicap. There are many rare skin diseases like Atopic dermatitis(categorized by chronic inflammation of the skin), Epidermolysis Bullosa (inherited disorders in which the skin and mucous crusts are very delicate that the lightest touch can cause very painful), Icthyosis (dry, thickened, scaling skin).

The many different types of rare oncological diseases include tumors of the body and hematological disorders of the blood. Although individually these malignancies are rare, as a group, they represent a significant majority of people with cancer. Certain characteristics of these malignancies differentiate them from more common types of cancer. Often, the cancer begins in a type of cell that only rarely becomes cancerous. This can happen in organs that are otherwise common sites of cancer growth. For example, although breast cancer is not a rare disease, angiosarcoma of the breast, which arises in the inner lining of blood vessels, is a rare cancer.

These diseases occur very rarely, consisting of fluid-filled channels they are non-malignant masses or spaces thought to be caused by the abnormal development of the lymphatic system. These formations are usually detectable at birth or after two years of age. Lymphatic malformations can affect any part of the body (except the brain), but they most commonly affect the head and neck. When recognized at birth that is congenital, lymphatic malformations tend to be soft, spongy, non-tender masses. The most common symptoms and lymphatic malformations severity differs depending upon the size and specific location of the malformation. Some lymphatic malformations can be massive or huge Lymphatic malformations can potentially cause functional impairment of nearby structures or organs and disfigurement of affected areas Irrespective of size.

Neurological disorders are the diseases associated with the spine, brain and the nerves that connect them. It affects the body nervous system. Reflex Sympathetic Dystrophy Syndrome, Aicardi-Goutieres syndrome, Acarida syndrome are few rare neurological disorders to specify. The central nervous system 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, hypotonia and peripheral neuropathy. 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.

There are around 7,000 rare diseases, which from a regulatory outlook are defined as those diseases where there are less than 200,000 patients in the US or that affect no more than five in 10,000 of the general population in the EU. Orphan drugs are medicinal products envisioned for diagnosis, prevention, and treatment of life-threatening rare diseases. They are "orphans" because the pharmaceutical industry has little interest under normal market conditions in developing and marketing drugs intended for only a small number of patients suffering from very rare conditions.

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with current technologies and knowledge is often still a challenge. Pediatric genomics is rapidly evolving field but it is not well developed, that tackles this problem by incorporating next-generation sequencing technologies, especially whole-exome sequencing and whole-genome sequencing, into research and clinical workflows. This difficult multidisciplinary approach, combined with the ascending availability of population genetic data variation, has already resulted in an increased discovery rate of causative genes and in improved diagnosis of rare pediatric disease. Substantially, for affected individual family members, a good and thorough understanding of the genetic basis of rare disease translates to more perfect prognosis, management, surveillance and genetic advice; stimulates research into new therapies; and enables provision of better support.

A rare disease is defined as a condition that affects less than 200,000 people. This explanation was formed by Congress in the Orphan Drug Act of 1983. There may be as many as 7,000 rare diseases. Only a few categories of rare diseases are tracked when a person is diagnosed. These include certain infectious diseases, birth defects, and cancers. It also comprises the diseases on state newborn screening tests. Because most rare diseases are not trailed, it is hard to determine the exact number of rare diseases. Most rare diseases are genetic, and thus are present throughout the person's intact life, even if symptoms do not immediately appear.

Globally, about one-third of human deaths are attributable to infections. In addition, the so-called non-infectious causes of death often have a mysterious infectious Etiology. Many rare diseases or orphan diseases caused by infectious agents rather than genetic or environmental factors.

Rare cancers caused by simple genetic mutations and common cancers tend to be caused by a complex set of genetic and epigenetic aberrations that continually grow in number as the tumor develops. A cancer is considered to be rare if- 1. It starts in an uncommon place in the body, 2. The cancer is an unusual type and may need special treatment, 3. It is not one of the common types of cancer.

Viral Infectious Disease occurs when an organism's body is invaded by pathogenic viruses, and infectious virus particles (virions) attach to and enter susceptible cells. There are many types of viruses that cause a wide variety of viral diseases. The most common type of viral disease is the common cold, which is caused by a viral infection of the upper respiratory tract (nose and throat). Viral diseases are contagious and spread from person to person when a virus enters the body and begins to multiply. Viral diseases result in a wide variety of symptoms that vary in character and severity depending on the type of viral infection and other factors, including the person’s age and overall health.

Sexually transmitted infections (STIs), also referred as venereal diseases (VD), are infections that are generally disseminated by sex, especially vaginal coition, anal sex or oral sex. Most STIs originally do not cause symptoms. This leads to a greater risk of transferring the disease on to others. Expression and evidences of disease may include vaginal discharge, penile discharge, ulcers on or around the genitals, and pelvic pain. STIs attained before or during birth may result in poor fallout for the baby. Some STIs may cause problems with the capacity to conceive. More than 100 different microbial pathogen can cause STIs. Bacterial STIs include chlamydia, gonorrhea, and syphilis among others. Viral STIs include genital herpes, HIV/AIDS, and genital warts among others. Parasitic STIs comprises trichomoniasis among others. While usually spread by sex, some of them can also be spread by non-sexual influence with infected blood and tissues, breastfeeding, or during childbirth. STI assay tests are easily available in the developed world. Most STIs are amenable. Of the most common infections, syphilis, gonorrhea, chlamydia, are curable, while herpes, hepatitis B, HIV/AIDS, and HPV are treatable but not curable. Refusal to certain antibiotics is developing among some strains such as gonorrhea. Not all STIs are emblematic, and symptoms may not appear rapidly after infection. In some cases, a disease can be without any expression, which leaves higher chances of transmission of the disease on to others. Depending on the infection, some untreated STIs can lead to infertility, chronic pain or even death. The occurrence of an STI in prepubescent children may indicate sexual exploitation.

Effective implementation of measures like closing down schools, universities, workplaces, and mass get-togethers notwithstanding social separating, could diminish the quantity of cases fundamentally and hinder its encouraging two-three months sooner. The model took a gander at adequacy with changing degrees of isolate. It can extend on essentially at low levels, for example, 20 percent isolate. The effect on development starts to set in when 50 percent or a greater amount of contaminated people are disengaged as to forestall spread.