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9th World Congress on Rare Diseases and Orphan Drugs, will be organized around the theme “Socio-Economic Perspectives in the elimination of Rare Diseases and development of Orphan Drugs”

Rare Diseases Congress- 2019 is comprised of keynote and speakers sessions on latest cutting edge research designed to offer comprehensive global discussions that address current issues in Rare Diseases Congress- 2019

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Neurological disorders are the diseases associated with the spine, brain and the nerves that connect them. It effects the body nervous system. Reflex Sympathetic Dystrophy Syndrome, Aicardi-Goutieres syndrome, Aicardi 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 are 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.

 

  • Track 1-1Peripheral Neuropathy
  • Track 1-2Neuromuscular Disorders

Abnormality is also called as dysfunctional behavior which refers to the behavioral characteristic assigned to those with conditions regarded as rare or dysfunctional. A Behavior is considered to be abnormal when it is atypical or out of the normal or usual,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 expectations 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.

 

  • Track 2-1Obsessive-Compulsive and Related Disorders
  • Track 2-2Trauma and Stressor-Related Disorders
  • Track 2-3Bipolar disorder

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.

  • Track 3-1Chilhood stroke
  • Track 3-2Autoimmune Diseases
  • Track 3-3Congenital malformation

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. 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 medicine .

 

  • Track 4-1Cellular and Clinical Immunology
  • Track 4-2Innate Immune Mediated Diseases

Many rare diseases affect the kidneys and the urinary system, some limited to the urinary system itself (eg, membranous nephropathy), and some part of a condition (eg, Alport 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 (eg, Goodpasture syndrome). Many rare types of vasculitis can also cause major kidney problems (eg, 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 (eg, cystinuria). Rare  diseases can cause acute kidney damage (which may be repairable), but more often result in chronic kidney disease.

 

  • Track 5-1Acute Tubular Necrosis
  • Track 5-2Chronic Kidney Diseases
  • Track 5-3Hyperuricaemic Nephropathy

Poor understanding of the explanation of the planned indication thanks to few data-based studies finding out malady progression, heterogeneous patient populations with variable phenotypes and clinical courses, geographic dispersion of patients and investigators, restrictive uncertainties, and lack of previous clinical studies to determine a template for study execution, In rare malady trials, the necessity to recruit and retain patients whereas adhering to exceptional standards of care influences each call. The protocol should account for the vulnerability of the patient population and address moral concerns, significantly if the study style mandates ending of current medical aid thought-about essential for patient support. Eligibility criteria invariably influence the quantity of accessible subjects, and if unnaturally forced, scale back the chance of creating clinical trials info from that proof of effectiveness and safety

 

  • Track 6-1Contact dermatitis
  • Track 6-2Rare Skin disorders in children

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.

 

  • Track 7-1Chronic Lymphocytic Leukemia
  • Track 7-2Digestive rare cancers

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.

 

  • Track 8-1Classification of Lymphatic Malfunction
  • Track 8-2Daignosis and Treatment

Metabolism is the chemical process which our body uses to transform the food we eat into the form energy or fuel that keeps us alive and energetic too. When the metabolism processess fails a metabolic disorder occurs and results in the body to have either too high or too little of the essential materials needed to stay healthy.Our body is very sensitive to mistakes or errors in metabolism. The body must have amino acids and many types of proteins to perform all of its metabolic functions.  Calcium, potassium, and sodium ions are utilized  by our brain to generate electrical impulses and to send signals, and also lipids and fatty acids to maintain a healthy nervous system

 

  • Track 9-1Calcium Homeostasis
  • Track 9-2Metabolic Disorders

Gestational Diseases (GTD) may be defined as bunch of rare diseases that develop within the womb throughout an abnormal physiological condition. It happens once when abnormal cells or tumors grow inside the tissues that are square measure shaped following conception that may unremarkably surround the embryo and transform the placenta. Redness is caused by Acute venereal disease which might result in the Fitz-Hugh-Curtis syndrome (perihepatitis that causes higher right quadrant pain). Infection may become chronic, which are  characterised by intermittent exacerbations and remissions.

 

  • Track 10-1Adrenal Disorders
  • Track 10-2Preventing and Detecting Gynecologic Cancers

Diagnosis and the treatment of a rare disease become complex because of the circumstances that numerous health care providers may have restricted involvement with the identification of the particular disease condition with the diagnosis of rare diseases. Additionally, analysis before manifestation onset or diagnosis early stage in the disease can be challenging. Biopharmaceutical experts in the field have utilized new advances and the developing investigative comprehension of many rare diseases to develop and diagnose ground breaking therapies over the last 10 years. In 2015 alone, about half (47%) of novel latest drug approvals were for rare diseases. Disease specific therapies need to be developed for productive results in treatment of Rare Diseases.

 

  • Track 11-1Tissue-engineered medicines
  • Track 11-2Gene Therapy Medicines
  • Track 11-3Somatic-cell Therapy Medicines

An orphan drug is referred medicinal agent which has been developed to treat a rare medical illness or situation, the condition itself being defined to as a rare disease. Rare disease, also known as an "orphan disease", is any type of disease which affects a small percentage of the population. Majority of rare diseases are genetic, and hence are present throughout the individual's entire life, even if symptoms doesn’t appear  immediately. Many rare diseases appear early in life, and about 30 % of children with rare diseases will die before getting 5 year old. With only a solo diagnosed patient, ribose-5-phosphate isomerase deficiency is presently considered to be the rarest genetic disease. No single cut-offs number has been decided upon for which a disease is considered rare. A illness may be considered rare in one part of the world, or in a particular group of people, but still be common in another country or group of people. According to a research  over 55 million people are estimated to suffer from a rare disease in Europe and in the US, global estimates are between 5000 to 7000 rare diseases and new rare diseases are revealed every week and for many treatment is not available.

 

 

  • Track 12-1Drugs to treat Rare Medical Conditions

A clinical test is an experimentation designed to determine various scientific and consequence aspects of proposed treatment. It is important to remember that there is no guarantee a proposed treatment will be effective. Families should be prepared to balance the hope of participating in a clinical trial with the understanding that the therapy may not be optimal and could result in a serious negative outcome. Since some rare diseases can progress quickly, families often are willing to participate in risky, unknown treatments. Before agreeing to participate, everyone involved should fully understand these risks by carefully reading the consent documents and asking questions of the trial investigators. 

Breakdown in regular process of blood cell growth and development leads to the cell types production in abnormally large quantities  or in abnormal form.Some rare blood disorders especially those that are gene-based are easy to identify with a simple test, while others require substantial analyst work to successfully diagnose. Due to the large number of blood conditions common and uncommon, haematologists tend to be skilled investigators because they need to be specialists in differential diagnosis. This leads to blood cancers or other blood disorders. The most common blood cancers includes leukemia, lymphomas, and multiple myeloma. There are few common blood disorders also. These include various myeloproliferative neoplasms, histiocytosis, and paroxysmal nocturnal hemoglobinuria.

 

 

  • Track 14-1Leukamia
  • Track 14-2Sickle Cell Anemia
  • Track 14-3Multiple Myeloma

Even though numerous endocrine system illnesses such as diabetes, thyroid, and osteoporosis are among the utmost common and well known medical conditions, some patients who have been referred to an endocrinologist will require treatment for a rare disease. Number of these rare diseases are dangerous and lead to myriad sequelae and secondary diseases. Gland-based hormonal imbalances resulting in developmental abnormalities and related complications are among these diseases ,weight regulation issues and physical abnormalities  and frequent carcinogenic and non-carcinogenic endocrine-related tumor disorders (eg, multiple endocrine neoplasia, neuroendocrine cancer adrenocortical carcinoma, papillary thyroid carcinoma, primary thyroid lymphoma). Rare endocrine diseases can potentially impact any organ system, however.

 

  • Track 15-1Cellular and Behavioral Endocrinology
  • Track 15-2Endocrynological Disorders

A wide range of rare conditions involve the musculoskeletal system.Some, like Duchenne muscular dystrophy, arise from genetic problems in the muscles themselves, while others involve the nerves (eg, Charcot-Marie-Tooth disease), motor neurons (eg, amyotrophic lateral sclerosis [ALS]), or the bones (eg, osteogenesis imperfecta). Problems in other part of the body—such as mitochondrial disease or a metabolic disease like carnitine deficiency can also lead to major problems with these systems.Many individuals are familiar with some of these conditions, thanks ,in part, to powerful advocacy groups. Nonetheless, treatment options remain limited—although extensive research may soon change that.

 
  • Track 16-1Orthodontics And Dentofacial Orthopaedics
  • Track 16-2Challenges and complications in Orthopedic Surgery
  • Track 16-3Musculoskeletal Interactions

Researchers have made dramatic inroads into the study of polygenic and other complex human diseases, due in large part to knowledge of the human genome sequence, the generation of widespread markers of genetic variation, and the development of new technologies that allow investigators to associate disease phenotypes with genetic loci. Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby contributing a great deal to our understanding of all forms of genetic disease.

 

 

 

  • Track 17-1Phenylketonuria
  • Track 17-2Turner Syndrome