7^th Rare Diseases and Orphan Drugs May 27-28, 2021 Vienna, Austria

Rare diseases are a multiple heterogeneous group of diseases with a little in like manner aside from of their irregularity affecting with influencing the individuals. It is a health condition of low prevalence that affects a very less number of people compared with other diseases in the general population.  Most of these diseases are caused by genital variations and hereditary inceptions. There are more than 7000 rare diseases.

Pediatrics is the branch of medicine science that deals with the medical care of infants, children, and adolescents. Infectious disease, are also known as infect ology, is a medical specialty that dealing with diagnosis, control and treatment of infections. An infectious disease is practice may consist of managing nosocomial infections, or it may be out-patient base. Pediatric genomics is a rapidly developing field but it is not well developed, that challenges this problem by integrating next-generation sequencing technologies, especially whole-exam sequencing and whole-genome sequencing, into research and medical workflows. This challenging multidisciplinary approach, shared with the rising accessibility of population genetic data variation, has already resulted in an increased discovery rate of connective genes and in a developed diagnosis of rare pediatric disease.

A disease or disorder is defined as rare in the Europe when it affects fewer than 200,000            people.at any given time. A rare disease is a condition that affects a small percentage of the population. ... With only three diagnosed patients in 27 years, ribose-5-phosphate isomerize deficiency is considered the rarest known genetic disease.

Information about 5 Common Genetic Disorders

An orphan drug is a pharmaceutical agent developed to treat the medical conditions, because they are so rare drugs, which would not be profitable to produce without government assistance. This condition is referred to as orphan diseases. “Orphan drugs" are medicinal products that intended to diagnosis, prevention and treatment of life-threatening serious diseases or disorders that are rare.

Aging is a combination of degenerative changes that happen in living beings that doesn’t have the capacity to constantly recover. Aging is a main risk factor for most collective neurodegenerative diseases. The rare aging diseases are most common in children. The most common type of aging diseases is Progeria. The children turn older in at a very tender age. The life span of these children is not more than 13. The cause of this disease is due to sporadic mutation of the LMNA gene coding for a structural protein, Lamina A. Progerin is the truncated version of this structural protein. The diagnosis has been discovered but the cure has not yet been discovered for this disease. There are many life threatening aging diseases which are as follows.

Endocrine diseases in rare condition are caused due to hormonal changes, either increase or decrease in the release of hormonal secretions into the blood stream. Many diseases are enclosed in this particular group. They are: Addison’s disease, Cushing syndrome, Acromegaly, Diabetes insipid us, adrenocortical carcinoma, Anorchia, Autoimmune polyglandular syndrome, Gigantism and many more. These diseases are diagnosed and the cause is known but only some of them can be treated.

Gene Therapy mainly involves in the alteration of genetic material within a cell or organism with an intention of curing of the diseases. 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 recombinant DNA technology in the 1970s provided proof 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 anemia, hemophilia, cystic fibrosis, muscular dystrophy, Gauscher’s disease, lysosomal storage diseases, cardiovascular diseases, diabetes and diseases of bones and joints are resolved through successful gene therapy.

The Neurological disorders can be classified into two categories, those that affect the central nervous system are brain and spinal cord and also that affects the peripheral nervous system are few rare specified neurological disorders. This may occur in the infant during childbirth because of birth injuries and Structural disorders, such as brain or spinal cord injury, Bell's palsy, cervical spondylitis; carpal tunnel is inherited in an autosomal recessive manner. It is necessary to study the physiological defects of brain and muscle structures in LS for diagnosis and treatment.

A rare cancer might be a subtype of a most common cancer. Rare cancers include thyroid cancer, acute lymphoblastic leukemia (ALL) and mouth cancer. There are also many rare cancers most people will not be familiar with. Although the incidence of individual rare cancers is low, as a collective they represent nearly a quarter of all cancers, more than any single common cancer. Rare cancers have been divided into two groups: cancers defined by their unusual histogenesis (cell of origin or differentiation state) and histologically defined subtypes of common cancers. The presence of specific genetic variants provides rationale for the testing of targeted drugs in rare cancers and they represent roughly 20% of all human cancers and are associated with worse survival. Diagnosis of rare cancers may consume a lot of time and about one in five rare cancers affect the blood and lymphatic system. 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.

Viral Infectious Disease occurs when an organism's body is invaded by pathogenic viruses, and infectious virus particles attach to and enter susceptible cells. There are plenty of viruses that cause a wide range of viral diseases. Viruses are very tiny germs. They are made of genetic material inside by a protein coating. Viral diseases are contagious and can 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 sexually transmitted diseases (STD), are infections that are commonly spread by sexual activity, especially vaginal coition, anal sex or oral sex. Most STIs initially do not cause symptoms. This result causes a great risk of passing the disease on to others. STIs attained before or during birth may result in poor out comes for the baby. Some STIs may cause problems with the ability to get conceive. More than 30 different microbial pathogen can cause STIs.  STIs usually spread by sex, some of them by non-sexual contact like infected blood tissues, breastfeeding, or during childbirth. STI diagnostic tests are easily available. Depending on the infection, untreated STIs can lead to infertility, chronic pain or even death. Viral STIs include genital herpes, HIV/AIDS, and genital warts among others

Abnormality is also called as dysfunctional behavior which is assigned to the behavioral characteristic to those conditions regarded as rare or dysfunctional. A Behavior is considered to be abnormal when it is atypical or unusual behavior; it consists of unpleasant behavior, 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 conditions are broadly dependent on age, gender, traditional and societal categorizations. The definition of abnormal behavior is an often debated issue in abnormal psychology because of these subjective variables.

The oral Oral-facial-advanced syndrome is a broad term for no less than 10 obviously unique hereditary disorders that are described by irregularities and flaws in the improvement of the structure of the oral cavity including the mouth, tongue, teeth, and jaw; the advancement of the facial structures including the head, eyes, and nose; and the fingers and toes; alongside varying degrees of mental disorder. The presentation of signs and symptoms is extremely varied, making the diagnosis difficult. OFDS type I (Papillon-Leage-Psaume syndrome) is the most common of all of these disorders, and it is quite rare. OFDS type I is associated with a mutation on the X chromosome of a gene designated CXORF5 and in most cases, it is believed, the mutation occurs randomly (sporadic). Other rare oral diseases include Odontoma dysphagia syndrome, Tricodento-osseous syndrome, Oral sub mucous fibrosis, Bam forth syndrome, Dentin dysplasia sclerotic bones. Undiagnosed diseases also are of prior importance. The symptoms of these diseases can be useful for the current researchers for their diagnosis.

Advancements in research for the treatment of rare skin conditions with genetically modified stem cells have recently garnered widespread attention amongst the scientific community. Nonetheless, complications can arise with gene therapy, such as the overexpression of genes leading to tumor development. Despite the shortage of information relating to the adverse effects of the therapy on the patient, if deemed safe, this therapy could revolutionize the treatment of rare skin disorders. The rare skin diseases are most commonly seen in American countries and millions of people are affected by one or the other type of skin disorders. These skin diseases affect the protective barrier, that is, skin from performing its normal functions.

Immune system is a body defense system and works to defend the body against harmful foreign substances, or pathogens, either by preventing them from entering the body in the first place or by attacking them once they get inside. The immune system acts as a layer of defense and engulfs or swallows the foreign substances entering the body. The changes in the activities of the immune system may lead to reduced immunity. In a rare condition, like in SCID, Severe Combined Immunodeficiency, the infant is born without a developed adaptive immune system. This disease is expected to occur in 1 of 100,000 births. The child is extremely responsive to infection and various other diseases. Some of the other diseases that affect the immune system: Chediak-Higashi Disease, Mosaic variegated aneuploidy (MVA) syndrome, hereditary angioedema with C1-inhibitor deficiency, Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome, Bradykinin-mediated angioedema (Bk-AE) and many more.

Allergy is one of the adverse immune reaction which is next accompanied by inflammation. The set of reactions caused by Hypersensitivity reactions of the immune system in response to any foreign substance is called allergy/ allergic diseases it may arise due to environmental or genetic factors. The immune system is delegated to defend the body from attacks outside or inside. Many  of the diseases that target immune system and reducing its ability to defend self or the fighting ability against foreign cells or inducing an abnormal response against external or internal antigens. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens.

Ophthalmological Diseases in which rare, hereditary vision disorder within which an individual has frequent or no ability to visualize color. Since ophthalmologists perform an operation to eyes, and also involving with both surgical and medical specialists to treat the rare conditions in eyes, some of them are receiving treatments. A large number of diseases and conditions may be diagnosed with rare eye problems affecting everyone. Individuals with achromatopsia conjointly usually experience some vision loss, especially within the brightest light, to which they extremely cause vision impairment. The severity of the illness achromatopsia varies differently. Although there'll be no cure or treatment for this disorder type, individuals with rare Ophthalmological conditions will manage their symptoms. The main factor they get involved as they will wear spectacles or tinted contact lenses to address bright light. They'll use magnifiers and different devices for low power vision to assist them read, and telescopes to assist them see distant objects.

 A number of rare diseases affect the kidneys and the urinary system. Some of these diseases are confined only to the urinary system and some are them also show symptoms in the different organ systems. The severity of the diseases varies affecting different parts of the urinary system like urinary tracts, tubules, glomerulus, Bowman’s capsule of the nephron, etc. Some diseases also may cause due to inflammation and autoimmune disease. The vasculature of the kidneys also gets affected, causing improper filtration of the urine from the blood vessels. The blood cells get excreted out in the form of urine. The most widely seen rare conditions in the genitourinary system are Emphysematous cystitis, urofacial syndrome, Fowler's syndrome, and glomerulonephritis, etc.

When the normal process of blood cell growth and development breaks down, certain cell types can be produced in abnormally large quantities or in abnormal form which gives rise to blood cancers or other blood disorders. There are two types of rare blood diseases, they include: Myeloproliferative disorders also referred as myeloproliferative neoplasms (MPNs) and Lymph proliferative disorders also referred as lymph proliferative neoplasms (LPNs). Myeloproliferative disorders originate when the bone marrow starts making too many red blood cells, platelets, or certain white blood cells whereas, lymph proliferative disorders.MPNs include: Polycythemia Vera, Myelofibrosis, Essential thrombocythemia, Eosinophilia, Mastocytosis, Histiocytosis and Paroxysmal nocturnal hemoglobinuria. LPNs include: Hairy cell leukemia (HCL) and Large Granular Leukemia (LGL).

Respiration involves gas exchange in higher organisms. Respiratory disorders occur in the respiratory tract, which includes the alveoli, bronchi, bronchioles, pleura, pleural cavity, trachea and the nerves and muscles of breathing. Some of the rare pulmonary disorders include: lymphangioleiomyomatosis, Pulmonary Alveolar Proteinases, Pulmonary Langerhans Cell Histiocytosis, Pulmonary Alveolar Microlithiasis, Pulmonary vacuities, Idiopathic eosinophilia pneumonias and many more. The common symptoms of the above-mentioned disorders are: breathlessness, swollen lymph nodes, chest pain, fatigue etc. The cost of treatment for some rare diseases is very expensive

Clinical 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.

A rare disease is any disease that affects a small percentage of the population.  This research provides opportunities to study on rare diseases. Major scientific breakthroughs resulting from investigation of rare diseases have regularly given knowledge into more common disorders. The satisfaction of diagnosing a patient with a uncommon 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. Additionally, for the “interesting” patient with a uncommon disease, being a carcinoma to physicians may intensify suffering.

Orphan drugs are medicinal products that are used to treat rare diseases. They are called “orphan drugs” because due to their limited in market, only few pharmaceutical companies pursue research into such products. These drugs would not be produce without government assistance.

List of orphan medicinal products in Europe with European orphan designation