The rare diseases that include more single gene disorders like Duchenne muscular dystrophy, Huntington diseases. these diseases occur many of the childhood and the adults disease and Crohn’s disease and some of the childhood cancers are infectious diseases. The rare disease is like a health condition of very low persons that effects a unique number of people compared with other diseases in general population.  The causes of the rare diseases are such as diet, smoking, environmental factors or exposure to the chemicals, these also play an important role in rare diseases. that factors may have directly causes diseases or with the genetic factors are also cause or increase the factors of diseases. These types of diseases are called as rare, genetic disease or disorder.

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The clinical case studies and reports is the access for the peer reviewed journals that is considers case reports across the clinical and medical disciplines. In the clinical case reports and cases studies has a qualitative methodology, the study research has the encompasses a great deal and more complexity than a typical case report and it incorporates its multiple stream of the data combined to creative ways.

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They are different types of rare diseases that are based on the different body parts, different diseases, different gene, etc.

Rare musculoskeletal diseases

Rare diseases of endocrine system

Rare Pulmonary Diseases

Rare Ophthalmology Diseases

Rare Blood Disorders

Rare Endocrine Disorders

Pediatric rare diseases

Rare Metabolic Disorders

Rare Vascular Disorders

Rare Skin Disorders and Diseases

Rare Congenital Disorders

Zoonotic Diseases

Muscular Dystrophy

Pathogenesis

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Related Tgs

Genetics Of Rare Autoimmune Diseases Conferences 2024 Cause Of Rare Immune Disease Identified Conferences 2024 Rare Autoimmune Diseases Conferences 2024 Rare Immune Deficiencies Conferences 2024 Rare Bone Diseases Conferences 2024 Skeletal Rare Disorders Conferences 2024 Rare Bone Diseases And Skeletal Dysplasias Conferences 2024 Related Associations The World Medical Association Healthcare, Advocacy, Education& Medical association Association for Accessible Medicines: Generics & Biosimilars National Medical Association The Royal Society of Medicine

The patients living with a rare disease is extremely difficult and to isolating .they might be a little information about the diseases or disorders may be have treatments can exist. It is hard to connect with the other patients and even know how many of they are out there. Living with the impact of living with the rare disease is beyond health . it felts in every movement of life, by the person living with a rare disease across the globe.

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The rare disease is a condition that can affect the low population in the states or more than 1 of every 2,000 people. these are called as rare diseases and the common disease is defined as the most commonly affects us and they are most familiar. The common disease are the most frequently affect the living human beings and those which are friendly occurring diseases.

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An autoimmune disorder is defined as if the immune system malfunctions are mistakenly attacks the healthy organs cells ,and tissues of the body is called autoimmune disease. And the this rare autoimmune disorder is caused because of the immune system of the body reacts against to our own body . This autoimmune disorders are caused when there is no reaction or slow reaction of the immune system .a healthy cells always attacks when the new cells enters into the body .these rare autoimmune disorder is very rare that occurs very small population.

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A rare bone disease is also called skeletal rare diseases. These bone diseases can make the bones easy to break. They are different kinds of bone problems which may make your bones weak and more likely to break. They are many diseases that involve bones they are genetic, that are inherited by a child from a parent . and they affect metabolism of the bones these diseases can appear at the time of birth or earlier.

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The rare cancers can found by those with an incidence of less than some lacks of persons per the year. The rare cancer that can occur in 14 out of 100,000 people in each year . the most types of cancer are considered as rare cancer , they can more difficult to prevent.

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The rare drug is the pharma industry are developed to analysis specific type of rare medical conditions .and these type of drug is not be a profitable to produce with out government cooperation. The orphan products are the drugs medical devices and medical food that indicate to the rare disease or condition . and the orphan products clinical trials have a method to successfully encouraging the development of safe and effective medicinal products to the rare diseases.

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The mystery diagnosis of rare diseases are still mystery. They collect the information from, blood tests, scans, family history and other ways to solve this mystery of patients symptoms still it is like a mystery diagnosis .

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It is defined as a drug may granted orphan status when t is under development for a only a particular person with a particular disease a demonstration that the subset is medically plausible An orphan drug is a pharmaceutical agent developed for the treatment of certain rare medical diseases . the orphan drug can t be profitable to produce because of very small population of patients affected by these rare diseases.

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It is defined as the study of how the genes and the genome contribute to the different biological processes the research in this field is difficulty studies on a genome wide with the hope of narrowing them down to the list of gene or regions to analyze in detail. The functional genomics is used to the determination of how the individual components of the biological system work can be together to produce the phenotype. these are mainly focus on the expression of gene products in a specific context. A gene therapy is one of the type of medical treatment that involves removing and adding or the changing the person genetic material it is also known as their DNA The gene therapy has the potential of correcting underlying genetic defects and offering the cure rather to managing symptoms.

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These rare nutritional and metabolic diseases is a rare inherited metabolic condition. where the accumulating substrate .it affects 2 in 200,000 people in the general population, and 1 in 855 in community. Metabolic diseases are typically hereditary they may appear days months and years. The symptoms occurs when the body’s metabolism comes under stress .they are relatively common when they are considered like a group the unique metabolic diseases are having the incidences are approximately one in five hundred or they can higher in the isolated population or 1 in 1,000 individuals

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The treatment of rare diseases are many ways as small molecule medication, antibody therapy, gene therapy, stem cell therapy, enzyme replacement therapy and drug repositioning therapies are used in the treatment of rare diseases. A treatment is a medical intervention that intended to remediate health in convenience like disease or disorder. These are called as a therapy ,the treatment is usually given by the physician they are part of the health care planers following diagnosis.

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The patient advocacy group have the minimum members of health advocates they play a vital role for rare disease patients by providing educational resources, support and the sense of community. These patient advocates are the connection between patients and health care providers to improve and maintain high quality healthcare to the patients. They are different types of patient advocacy groups . they are generally a non profit and focus on the unique diseases or disorders or aspects of health care . these advocates are referred as health advocacy organizations.

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A rare neurological disorder is defined as a bacterial conjugate limitation of the movements in downgaze .like tumors and cerebral infraction that can damage of cranial nerves or superior colliculi in the mid brain. The neurological disease or disorder are defined as the disorders that effect the brain and the nerves throughout the human body and the spinal cord .the structural and biochemical and the abnormalities in the brain and the spinal cord and the other nerves they can result in select of symptoms.

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The rare syndrome I Covid-19 is define das the multisystem infection syndrome appears in the children in a rare condition that associated with COVID-19. It appears 2 to 6 weeks after the child develops it involves the inflammation of the several body parts including the heart. Multisystem infection syndrome in the children is the rare condition that associated with the COVID-19 they can cause different internal and the external causes of the body parts to inflamed that includes heart, kidneys ,eyes, brain, skin, etc.

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They are large number of rare disease patients, and they remain un diagnosed for days months even years and some of them are even die without an accurate diagnosis. they are some of advancement in the diagnosis of this rare diseases. The time of an accurate diagnosis to a rare disease is takes 4 to 5 year and in some cases it can be 5 to 7, in some take over the decade of 8 to 9 . this type of disease caused patients face many problems and undergo extensive and expensive work ups in several institutions.

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The emerging in technology in rare diseases that include advanced bioengineering, artificial intelligence and the next generation sequencing these providing the unprecedented opportunities to accelerate the rare disease and the neglected disease treatment and diagnosis development . The emerging technologies that including artificial intelligence next generation sequencing , bioengineering that provides opportunities to accelerate rare disease and diagnosis 

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The research is defined as the area of science contested to the study of the processes of life and the treatment and the prevention of the disease and the environmental and genetic factors related to the disease and health. The bio medical research conducted to increase the basic knowledge and to understanding of the chemical, physical and the functional mechanism of the disease and the life processes. It is fundamental and solving any particular biomedical problem in living body’s .these type of research involves observing measuring describing and experimental manipulation.

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The rare diseases are also a genetic diseases and hence the employing pharmacogenetics are develop treatment and also using whole sequencing to the identification of the etiologies for such diseases are strategies to explore. The drug discovery and development is a knowledge and process that implies the management and generation that analysis huge amount of data from the initial target to the post marketing pharmacovigilance.

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The regulatory considerations for the orphan drugs is a processes the FDA has the authority to grant orphan drug designation to a biological product or drug to prevent or o treat the disease or condition. The orphan drugs are the drugs intended for the use of a rare disease or condition that is defined as section 526 of the act.

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The chromosomal abnormality is also known as aberration it is defined as a disorder characterized by the morphological or the numerical alteration that is in single or multiple chromosomes, sex chromosomes, or both. The chromosomal abnormalities are occurred as an accident when the sperm is formed or during the development stage of fetus. When the age of the mother and specific environmental factors may play a role in the genetic errors. Testing and parental screening can be performed to analysis the chromosomes of the fetus and some of them detect but not all types of chromosomal abnormalities.

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Sickle cell anemia is defined as in someone who has SCD, and the hemoglobin is abnormal and causes the red blood cells that become hard and look like a C-shaped tool is called a sickle. These sickle cells die early they causes constant shortage of RBC. These is one of a group of inherited disorders that are known as sickle cell disease. It also effects the shape of red blood cells, which carry oxygen to all parts of the body.

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Infectious diseases and immune deficiencies are the signs or symptoms of the starting immunodeficiency that include bronchitis, sinus, ear infections, skin infections meningitis. The inflammation or infection of internal organs. The infectious diseases are the disorders that are occur by the organisms and usually they are like microscopic in size, like viruses fungi bacteria or parasites they are passed, through the person to another by directly or indirectly.

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The testing that involves the analyzing the DNA, and the chemical database that can comes from the given sign s of the body functions. the genetic testing can reveal changes in the gens these may cause illness or disease. And the genetic counselor will determine the patient is seeking the genetic counseling and identify that what information they can do obtain from session and collect a record for a family medical history and record the medical history of the patient. The genetic counseling is done after testing that can help you better understanding the test results and treatment options and help to deal with emotional concerns and to refer to other health care providers and to support groups.

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The biomarkers for the rare disease diagnosis and treatment is defined as the biomarker is a biological characteristic they can be objectively measured and evaluated and as the signal of pathological processes or normal biological processes has the potential to improve and predict the disease manifestation and the monitoring responses to the therapeutic intervention. Biomarkers plays an important role in medicinal biology and they help in the early disease, diagnosis, treatment and prevention, and target drug identification, response etc., they have the identified for many disease such as cholesterol, blood pressure.

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The disease of the heart and vessels are called cardiovascular disease. This is the general term that describes the heart or blood vessels .in the heart the blood flow to the heart brain and body can reduced because of the blood clot called thrombosis build up of the fatty substance inside an artery and leading to the artery hardening and narrowing. This atherosclerosis is the condition that develops when the substance is called plaque builds up in the walls of the arteries. These narrows the arteries and making harder for blood to flow through.

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These is one type of rare diseases. the progeria is the rare genetic condition that can causes rapid aging in children .it is a micro genetic mutation causes the disease. It is defined as time related decline and physiological functions that is necessary to move and to the further processes. The characteristics of aging can be distinguished from diseases of the aging that affect all the individuals of the species.

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The X-linked disorders defined as the males with the disorder are the more affected than the females and in the same case they may be lethal during the development after birth so the effected females can survive. The X-linked disease is reported in the large pedigree and the disease is characterized by a dilated neutropenia and skeletal myopathy . and the untreated patients all boys are died in infancy and the childhood from cardiac decomposition.

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This mosaicism is occurred when the two or more genomes in the body of an individual from a single zygote and the mosaicism from chimerism and the condition in which an individual has two different, and complete genomes in her or his body that are from zygotes. These diseases arise through a new mutation occurs after fertilization that is postzygotic mutations. they have been described in the recent years and the cause of many different disorders many of these are neurocutaneous diseases .in some case or disorders, there is a genetic predisposition to the development of tumors.

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Vaccines are the suspensions of the killed microbes organisms that provide immunity for a specific disease. Vaccine can builds immunity that helps to fight when the microbial attack. The body creates the antibodies to attack them when the vaccines are injected in the patient’s body. Vaccination is the processes of administration used to give vaccines. That is giving the oral vaccines or injections to improve the immune system development to fight against the disease.

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