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World Congress on Rare Diseases, will be organized around the theme “Fighting Rare Diseases with Innovative Techniques ”

World Rare Diseases 2018 is comprised of keynote and speakers sessions on latest cutting edge research designed to offer comprehensive global discussions that address current issues in World Rare Diseases 2018

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A Rare disease is any disease that affects a very less number of the population. Most rare diseases are hereditary, and hence are remains through the entire life of the individual and directly caused by changes in genes or chromosomes. In some cases, hereditary changes are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed. Many rare diseases appear early in life. The exact cause for many rare diseases remains unknown. But Environmental factors, viral infections, genetic mutations, diet, smoking, or exposure to chemicals, also can play a role in rare diseases. Many rare diseases, including infections, a few rare cancers, and a few immune system infections, are not inherited. While researchers are learning more each year, the correct cause of many rare diseases is still unknown. Researches are still going on for this uncommon illness.

  • Track 1-1Hereditary gingival fibromatosis
  • Track 1-2Resources for discovering treatments
  • Track 1-3Chronically debilitating diseases
  • Track 1-4Cystic fibrosis
  • Track 1-5Diagnostic odyssey

 Many terms are normally used in describing the infectious diseases.  Disease refers to the presence        of pathology and an infectious disease is an infection caused by a microorganism. Virulence is a term referring to the power of an organism to produce disease in a particular host. Immunity refers to the degree of resistance of the host for a specific microbe.  Many infectious maladies, such as measles and chickenpox, can be anticipated by vaccines. Infectious diseases can cause many distinctive symptoms. Some are so mild that you may not even notice any side effects, while others can be life-threatening. There are medicines for a few infectious diseases, but for others, such as a few viruses, you can only treat your symptoms. You can take steps to prevent many infectious maladies. There are numerous distinctive ways that you can get an infectious disease for example – through insect or animal bites, contaminated food, and water. Pregnant mothers can too pass some germs along to their babies; the infectious diseases are usually characterized by the dominant organ system involved.

 

  • Track 2-1Bacterial infection(one-celled germs that multiply quickly): Strep throat, urinary tract infections
  • Track 2-2Viral infections(tincapsules that contain genetic material): HIV/AIDS, common cold
  • Track 2-3Diagnosis - Imaging scans, Biopsies
  • Track 2-4Naegleriasis
  • Track 2-5Creutzfeldt–Jakob disease
  • Track 2-6Q fever

Neglected tropical diseases are a bunch of parasitic and bacterial infectious diseases that affect more than including one billion people and cost developing economies billions of dollars every year, 836 million children. They are as often as possible clustered together topographically and people are frequently afflicted with more than one parasite or contamination. Effective control can be achieved when selected public health approaches are combined and conveyed locally. Intercessions are guided by the local epidemiology and the availability of appropriate measures to identify, anticipate and control diseases. Numerous neglected tropical diseases can be anticipated, eliminated or even annihilated with improved access to existing safe and cost-effective devices. Control depends on simple mediations that can be carried out by non-specialists also.

 

  • Track 3-1Schistosomiasis
  • Track 3-2Ascariasis
  • Track 3-3Onchocerciasis
  • Track 3-4Fascioliasis

Drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to public health need. Orphan drugs are intended to treat diseases so rare that sponsors are reluctant to develop them under regular marketing conditions. The process from the discovery of a new molecule to its marketing is long, expensive and very uncertain. Developing a drug expecting to treat a rare disease does not allow the recovery of the capital invested for its research.

Aging takes place in a cell, an organ, or the total organism with the passage of time. HGC syndrome begins in early childhood. It is caused by a hereditary abnormality but is usually not inherited. That is, the genetic disorders occurs on its own. It causes inelastic and wrinkled skin, baldness, and other issues usually related with aging. Most children die in their teens .The average lifespan is age 13-14; death is usually due to heart attack or stroke. Studies have appeared that 37.5% had ordinary lifespan, 25.7% potentially deadly during childbirth or before 5 years of age, 36.8% diminished lifespan.

  • Track 5-1Progeria (Hutchinson-Gilford progeria syndrome)
  • Track 5-2Medication‎: ‎Lonafarnib
  • Track 5-3Genetic disorder
  • Track 5-4Failure to thrive
  • Track 5-5Scleroderma

Rare cancers affect a very little number of people. A cancer might also be considered rare if it starts in an unusual place in the body. Or if the cancer is an unusual type and needs special treatment, caused by chromosomal abnormalities that occurs spontaneously. Specialists aren't sure what causes the mutation. Many people don't develop symptoms until later stages and the diagnosis is only made through routine blood work. When symptoms do happen, they include bleeding easily, feeling run down or tired, weight loss, pale skin and night sweats. These diseases can damage the bones, immune system, kidneys and red blood cell count.

  • Track 6-1Chronic Myeloid Leukemia
  • Track 6-2Multiple Myeloma
  • Track 6-3Chromosome Mutations
  • Track 6-4Haematopoietic stem cell transplantation
  • Track 6-5Fatigue, Anaemia, Malaise

Brain diseases come in diverse forms. Infections, injury, stroke and seizures some of the major categories of brain diseases. Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. In approximately 90 % of cases, CJD appears to occur randomly for no apparent reason (sporadically). Almost 10% of affected people may have a hereditary predisposition for the disorder.

  • Track 7-1Rett Syndrome
  • Track 7-2Huntington’s
  • Track 7-3Scoliosis, Tremor
  • Track 7-4Amnesia, Delusion

Genetic disorders are diseases that result from a change in the normal DNA sequence. Most genetic disorders are caused by multifactorial means, involving a combination of genetic and environmental factors. Thousands of human diseases are now known to be caused by single gene disorders and chromosomal abnormalities, many of which include eye and Ear etc. Retinoblastoma is a life-threatening cancer that forms in the retina. It causes the pupil to appear white instead of red when light sparkles into it. Other examples of uncommon eye diseases are Albinism, Keratoconus, and Trachoma. The ear disorders are exceptionally uncommon and your chances of creating them are thin. Cholesteatoma is a rare condition where a cyst-like growth develops in the ear. It can be a birth defect   but usually occurs as a complication of long-standing ear infection. Chronic eye disease is another example of rare ear disease.

  • Track 8-1Retinitis pigmentosa (Rod Cone dystrophy )
  • Track 8-2Vision impairment
  • Track 8-3Tunnel vision
  • Track 8-4Meniere’s disease
  • Track 8-5Motion sickness
  • Track 8-6Anti –nausea medications

Rare haematological diseases fall into numerous subcategories, including anemia-type red blood cell conditions (e.g. sickle cell disease, beta thalassemia, Diamond-Blackfan anemia), white blood cell dysfunctions related with different malignancies ,immuno- platelet-based abnormalities that affect platelet and plasma cell disorder. 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.

  • Track 9-1Sickle cell disease
  • Track 9-2Thalassemia
  • Track 9-3Blood transfusion
  • Track 9-4Chronic Pain

Many associations, both national and international, have been created in later years to inform and defend patients affected by these disorders. Uncommon diseases due to changes in the immune system represent a field of medical science of great interest that is undergoing continuous expansion; these disorders have an incredible social and economic impact because they often affect young or very young people at the height of their social activities and relationships. Achondroplasia is a disorder of bone growth that prevents the changing of cartilage to bone. It is characterized by dwarfism, limited range of motion at the elbows, and normal intelligence. Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. Approximately 80% of people who have achondroplasia have parents with normal stature and are born with the condition as a result of a new gene alteration. Each person with Achondroplasia has a 50% chance, with each pregnancy, to pass on the changed quality.

  • Track 10-1Spontaneous formation of hematomas
  • Track 10-2Steroid
  • Track 10-3Anti –D
  • Track 10-4Immune thrombocytopenia
  • Track 10-5Serious and possibly fatal complications

A limited number of orphan drugs are approved for neurological conditions; many orphan drugs are in development. Rare diseases in neurology can seem generally common to neurologists since, like many specialists, they often get referrals from common practitioners or other neurologists. Fast progress can take place not only in the understanding of the genetic origin and diagnosis of rare neurological diseases, but also in treatment. Examples of rare neurological conditions are amyotrophic lateral sclerosis (ALS), Duchene muscular dystrophy, and Huntington's disease. In addition, other rare diseases, including cerebrovascular diseases, neurometabolic disorders, neuromuscular disorders and neurodegenerative disorders. 

  • Track 11-1Fragile X syndrome
  • Track 11-2Batten diseases
  • Track 11-3Anxiety
  • Track 11-4Seizures

There are many rare endocrine system diseases. Addison's infection is very uncommon. According to the National Organizing of Wellbeing, more than 175 distinct rare diseases affect the endocrine system, a complex system of organs and glands that employs around 30 distinctive hormones to influence a range of vital functions including growth, metabolism, heart function, and fertility. Rare endocrine diseases can potentially affect any organ system.

  • Track 12-1Neuroendocrine tumors
  • Track 12-2Transarterial chemoembolization
  • Track 12-3Radiation therapy
  • Track 12-4Radiofrequency ablation

In plant diseases, the causal agent maybe a fungus, virus, bacterium or a parasitic flowering plant. The progression of symptoms is one of the most vital characteristics related with problems caused by biotic agents. The quantitative aspects of plant infection and colonisation by viruses were mostly addressed during the early period of plant virology. Begomoviruses rank among the top of the most critical plant viruses causing disease of severe results in crops. Wheat flag smut is an example of plant rare diseases; symptoms include poor head development; and long, linear, greyish lesions on the flag leaf.

 

  • Track 13-1Plant virology
  • Track 13-2Food microbiology
  • Track 13-3Clinical bacteriology
  • Track 13-4Crop diseases

A condition that affects the stomach muscles and prevents proper stomach emptying. Gastroparesis can affect digestion. The cause might be damage to a nerve that controls   stomach muscles. This disorder shows Symptoms including nausea and a full feeling after small food is eaten. Gastroparesis is a condition in which your stomach cannot empty itself of food in a normal design. It can be caused by harm to the vagus nerve, which controls the digestive system.

  • Track 14-1Achalasia
  • Track 14-2Regurgitation
  • Track 14-3Bowel resection

The disease is a serious or life-threatening disease in which the serious or life-threatening manifestations primarily affect individuals aged from birth to 18 years, including age groups often called neonates, infants, children, and adolescents. Achondrogenesis is one of the examples of pediatric rare diseases.  Pediatric rare diseases have received increased attention in recent years due to greater public awareness, significantly improved understanding and treatment of the relatively more common disorders, elimination of nutritional deficiencies and the development of laws related to the treatment of rare diseases.

 

  • Track 15-1Genetic disorder
  • Track 15-2Achondrogenesis Syndrome 1A & 1B
  • Track 15-3DMD
  • Track 15-4Steroid
  • Track 15-5Drug treatment
  • Track 15-6Clinical trials
  • Track 16-1Hypophosphatasia
  • Track 16-2Dentin dysplasia
  • Track 16-3Odontoma
  • Track 16-4Anodontia

Making a pharmaceutical care development program for the treatment of a uncommon disease can, however, prove to be a monumental task. Poor understanding of the characteristic history of the proposed indication due to few observational studies considering disease progression, heterogeneous patient populations with variable phenotypes and clinical courses, geographic dispersion of patients and investigators, regulatory uncertainties, and lack of prior clinical studies to establish a format for study execution, can all prove challenging. While individually rare, orphan diseases are really collectively common, with an estimated 350 million sufferers around the world.

  • Track 17-1Patient attrition
  • Track 17-2 Interface between clinical development and the regulatory process
  • Track 17-3Less knowledge on pathophysiology of disease
  • Track 17-4Lack of awareness
  • Track 17-5Diagnosis
  • Track 17-6Developing and using Orphan medicinal products

Rare diseases provide opportunities to study human physiology and biomedical science from interesting perspectives. 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 fascinoma to physicians may intensify suffering.

  • Track 18-1Physiology
  • Track 18-2Biomedical
  • Track 18-3Chronic illness
  • Track 18-4Research on new drugs
  • Track 18-5Use of Intravenous drug

Knowledge of the natural history of these diseases is improved by the creation of registries.   Researchers are increasingly working through networks in order to share the results of their research and to advance more effectively. An orphan drug is a medicinal product developed for the treatment of a rare disease. For all rare diseases, science can provide some answers.  

  • Track 19-1Rexin G
  • Track 19-2Carmustine
  • Track 19-3Orphan products clinical Trials Grants Program
  • Track 19-4Nanotechnology and Nano-medicine

Most rare diseases have no cure, so living with a rare infection is an on-going learning experience for patients and families. Day-by-day, hand-in-hand, together we present a united voice to advocate for the treatments, care, resources and services we all need. Patients, families and organisations are pivotal for making solutions for the day by day challenges of living with a rare disease. It is essential to send a strong message of solidarity to the countless rare disease patients and families throughout the whole world. Together, we can change the person experience of patients and relatives around the world into collective actions, support, promotion and community building. 

  • Track 20-1Find a diagnosis
  • Track 20-2Access the treatment

Rare diseases affect an estimated 2-4% of the population. A likely next step is whole genome sequencing, a diagnostic technique that over the last decade has significantly bolstered the effort to identify undiscovered diseases. A different approach is to search for patients with similar hereditary abnormalities and similar side effects. Determining the cause of a malady is often a victory in its own right for people who’ve spent years trying to figure out what’s wrong with their bodies.

  • Track 21-1Rarity of the condition or disease
  • Track 21-2Mystery illness program
  • Track 21-3Lysine (K)-specific demethylase 1A (KDM1A)
  • Track 21-4Enterovirus D68
  • Track 21-5Exome

It is still a reality for rare disease patients to spend years in the health care system before an accurate diagnosis is made. Next-generation sequencing and improved data sharing have resulted in faster discovery of gene disease and thus diagnostics. However the rate of gene disease discovery is now slowing probably as a consequence of the likely complex origin of the remaining unsolved disease. To face this challenge, new methods in particular addressing non coding region of the genome will need to be developed. In addition, even if the rate of rare disease therapeutic development and approval has been increasing, 94% of  rare diseases still need an approved treatment. In addition, the number of untreatable uncommon diseases that have a first treatment approved remains low and even when a treatment is available, patients do not have always a ensured access to it. To face therapeutic discovery challenges, new approaches such as data-mining and repurposing and new models for funding drug discovery and covering treatment costs will be needed.

  • Track 22-1Patient access to diagnosis
  • Track 22-2International network for undiagnosed patients
  • Track 22-3Potential advancements in therapeutic development
  • Track 22-4Rare disease mechanism discovery