Rare Diseases and Orphan Drugs

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.

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.

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.

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.

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.

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.

Abnormality is also called as dysfunctional behaviour which refers to the behavioural characteristic assigned to those with conditions regarded as rare or dysfunctional. Behaviour is considered to be abnormal when it is atypical or out of the normal or usual, it consists of unpleasant behaviour, and results in deterioration in the individual's functioning. Abnormality is one, which is considered as different from specific ethical social and cultural expectations. These expectations are broadly dependent on age, gender, traditional and societal categorizations. The definition of abnormal behaviour is an often debated issue in abnormal psychology because of these subjective variables.