8^th International Conference on Rare Diseases & Orphan Drug December 02-02, 2021 London, UK

TRACK 1- Orphan diseases and public health

An orphan disease is a rare disease (according to US criteria, a disease that affects fewer disregards (such as cholera, typhoid, tuberculosis, and malaria) because it is far more prevalent in developing countries than in the developed world. Public health practitioners use a combination of disciplines that include basic science, epidemiology, behavioural research, clinical research, health care services, statistics, economics, and policy to identify the primary or secondary causes of health threats and then consistently prevent or decrease these causes in entire populations.

• Cystic fibrosis
• Lou Gehrig's disease
• Tourette's syndrome
• Duncan's Syndrome
• Madelung's disease
• Gigantism

TRACK 2-Orphan Drugs- Development Trends and Strategies

An orphan drug can be determined as one that is used to handle an orphan disease. For example, haem arginate, used to control small cintermittent porphyria, variegate porphyria, and hereditary coproporphyria is an orphan drug. A medicinal product which is came into the source as orphan drug is one that has been developed especially to treat a rare medical condition which is found, the condition itself being referred to as “orphan disease.” It may be defined as drugs that are not evolved by the pharmaceutical industry for economic reasons but which respond to public.

• Acute intermittent porphyria
• Variegate porphyria
• Haem arginate
• Hereditary coproporphyria

TRACK 3-Neglected Rare Tropical Diseases

Neglected tropical diseases (NTDs), such as lymphatic filariasis, dengue, leishmaniasis, and trachoma are called "neglected," because they generally afflict the world's poor and historically have not received as much awareness as other diseases. They are group of tropical diseases which are mostly seen in low income population and low developing countries like Africa, Asia and America. In this some are relatively expensive and some are not curable diseases.  The deaths with tropical diseases are recently come into the analysis and it seems to be higher in low developing regions.

• Buruli Ulcer.
• Chagas Disease.
• Cysticercosis.
• Dengue Fever.
• Dracunculiasis (Guinea Worm Disease)
• Echinococcosis.
• Fascioliasis.
• Human African Trypanosomiasis (African Sleeping Sickness)

TRACK 4- Rare Obesity and Metabolic Disorders

Valinemia is a very   infrequent metabolic disorder. It is distinguish by elevated stages of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase. This enzyme is requiring in the breakdown (metabolism) of valine. Obesity resembles some major health risks it can lead to impair of quality of life include the most frequent type2 diabetes cardio vascular diseases and certain type of cancers .Diabetes is most commonly seen metabolic disorders which is acquired by genetic factor.

•    Familial hypercholesterolemia.
•   Gauche disease.
•   Maple syrup urine disease.
•   Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
•   Hunter syndrome.
•   Crabbe disease.
•   Niemen-Pick
•   Metachromatic leukodystrophy.

TRACK 5- Allergic and Immunologic Disorders

Allergies, also known as allergic diseases, are a number of Pathology caused by hypersensitivity of the immune system to typical yon toxic material in the environment. These diseases include food allergies, dermatitis, hay fever, atopic dermatitis, allergic asthma, and anaphylaxis Allergic diseases and the major symptoms occur because of an growing immune system that reacts to things that are usually harmless, such as pollens, pet dander etc. They can be easily diagnosed if we are under good control of it.

• Allergy Pathogenesis
• Asthma
• Complement-Related Abnormalities
• Immunodeficiency
• Transfusion Reaction
• Urticaria and Angioedema

TRACK 6- Paediatric rare diseases

The biopharmaceutical investigator has made immense progress in move along with innovation for rare diseases, some of the rare diseases unmoving do not have some therapy options, act as a remarkable unmet need for patients. We've seen unbelievable proceed in the growth of medicines to treat patients with rare diseases as experimenters reveal the molecular and genomic drivers of many orders. The fatal and genetic conditions in the children was striking features resembles premature aging.

• Water allergy
• Foreign accent syndrome
• Laughing Death
• Porphyria
• Pica

TRACK 7- Future Hereditary of Orphan Drugs

The medicinal significant delegate as an orphan drug is one that has been growing specifically to treat a rare medical disorder, the condition describes as “orphan disease and also explain as drugs that are not made of implementing by the pharmaceutical industry for economic purposes. Which acts as public offer reason for assumption to families and individuals to bare from rare diseases like Batten Disease, Spinal Muscular Atrophy, and Duchenne? The main reason behind orphan drug is that cure any other future orphan rare diseases even any cause of deficiency.

• RPI Deficiency
• Hutchinson-Gilford Progeria
• Methemoglobinemia
• Kuru
• Fields Condition

TRACK 8- Mystery Diagnosis of Rare Diseases

The productive speak to rare disease therapies have loose short of providing desperately require interventions for the expansive majority of rare disease patients. That particular the patients' and doctors' struggling in determine a diagnosis  frequently due to negligent symptoms, masquerading syndromes, the scarcity of the disease or condition or the patient's case being an atypical manifestation of condition or disease. As it is named by the program partner in organizing rare diseases.

•  Epilepsy
• Myasthenia gravis
•  Alpha 1-antitrypsin deficiency
• Heart disease
• Crohn's disease

TRACK 9- Rare Genetic Diseases

Numerous suspected cases of genetic disorders endure undiagnosed or misdiagnosed due to the absence of connected clinical as well as diagnostic assets in the region, bring about patients to face an immense psycho-socio-economic emergency and numerous a time suffer long-lasting with their ailment. The disorganization that affects one child can be very dissimilar from how it affects another. They are different cause of rare diseases mainly the genetic growth directly caused by chromosomes in some cases it may also cause from one generation to another generation.

• Rare Genetic Diseases
• Proteus Syndrome
• Polymelia
• Neurofibromatosis
• Diprosopus

TRACK 10- Rare Diseases of Genitourinary System

In children, difficulties of many urinary systems incorporate acute and chronic kidney non-success, urinary tract infections, block along the urinary tract, and abnormalities in attendance at birth. Diseases of the kidneys frequently make temporary or permanent changes to the small functional formation and vessels interior the kidney. Intravenous Urography This test requires taking an X-ray of the urinary tract. Before X-rays are removed, a pigment is injected to make urine obvious on the X-ray, which can show any blockages in the urinary tract or issues with the kidneys.

• Acute Kidney Injury
• Alport Syndrome
• Nephropathic Cystinosis
• Cystinuria
• Fabry Disease

TRACK 11-Viral Infectious Diseases and Sexually transmitted diseases

Sexually dispatched diseases (STDs), or sexually transmitted infections (STIs), are infections that are passed from one person to another through sexual contact. The contact usually happens through sex. But sometimes they can spread through another intimate physical contact. This is because of some STDs, like herpes and HPV, are spread by skin-to-skin contact which automatically happens the body. Human virus can easily spread by the sexual contacts such as

• Papillomaviruses
• Hepatitis B virus
• Human Immunodeficiency Virus (HIV)
• Cytomegalovirus
• Herpes

TRACK 12- Rare Oral Diseases and Rare Aging Diseases

To examine the association of rare genetic diseases influences skeletal development, socio-demographic characteristics, and oral health-related behaviours with dent clinical measures in children and adolescents. Rare diseases of genetic origin are often related with other co-morbid conditions, which are often characterized by debilitating and chronically degenerative conditions associates to phenotypes2. Rare Oral diseases can occur in any form like cancer, immunity deficiency, and metabolic conditions.

• Gigantism
• Maple syrup urine disease
• Ochoa syndrome
• Foreign accent syndrome 
• Carcinoid syndrome

TRACK 13- Orphan Drugs Treatment for Rare Diseases

Drugs that are evolved specifically to treat rare diseases – called “orphan drugs” – often remain economically of Rare Disease Day, it’s worth reanalyse a series of Healthcare Triage videos we updated last year that majorly focuses on orphan drugs, what’s wrong with the undergoing system, and how we might get ridge out of it. Can we people come out of this undergoing worst system situation? An orphan drug is usually defined as that one used to treat orphan diseases for example heam arginate and many more. 

• Acute intermittent porphyria
• Variegate porphyria
• Hereditary coproporphyria
• Haem arginate

TRACK 14- Rare Bacterial, Viral and Fungal infections

Fungal diseases can affect easily as it keeps on spreading the infection in the body will grow faster Mild fungal skin diseases can look like a rash and are very common. Fungal diseases in the lungs are most similar to other illnesses such as bacterial or viral pneumonia which might cause fever symptoms. Some fungal diseases like fungal bloodstream and mucormycosis infections can be deadly. The major cause of fungal diseases is fingernails as we don't usually wash our hands the infection directly goes into the mouth.

• Aspergillosis
• Blastomycosis
• Candidiasis
• Coccidioidomycosis
• Fungal Eye Infections

TRACK 15- Rare Endocrine Genetic Diseases

A rare disease is defined as a disease or disorder that affects fewer than estimated at any given time. Among these, according to the National Institutes of Health (NIH), are more distinct rare diseases that usually affect the endocrine system. Their symptoms may seem rare in the body as vague, which can make it exacting to determine exactly what is wrong. Such “medical mysteries” often leave physicians to confound and patients going visiting doctor after doctor, searching for answers with no clear diagnosis.so, people randomly losing their lives.

• Ribose-5 phosphate isomerase
• Down Syndrome
• Thalassemia
• Cystic Fibrosis
• Tay-Sachs disease

TRACK 16- Rare Gynaecological and Obstetrical Diseases

As youngsters with a genetic syndrome transition to adult medical care, they may be mentioned to obstetrician-gynaecologists for routine preventive or contraceptive services, screening, or counselling for sexually circulated infection, or for menstrual management. Although some genetic syndromes have no physical impairment, others have similar ones; therefore, education and gynaecologic care should be based on a patient’s psychological and physical capabilities. It is important to mention that adolescents with or without a genetic syndrome are sexual beings.

• Acute Abdomen and Pregnancy
• Adrenal Disease and Pregnancy
• Anemia and Thrombocytopenia in Pregnancy
• Antiphospholipid Syndrome and Pregnancy
• Asthma in Pregnancy
• Autoimmune Thyroid Disease and Pregnancy

TRACK 17- Clinical Research and Public Awareness

Clinical research is central to the National Institutes of Health (NIH) goals of improving health, increasing health, and reducing the burden of illness and disability. For example, through clinical research we can gain some insights and answers about the safety and efficacy of drugs and other therapies which can aware publish with some researches. To encourage patient patience and commitment, to encourage trial participants to actively share their online experiences through social media, patient forums, or orally.

• Leveraging patient
• Volunteer advocacy
• Social media
• Patient forums
• By word of mouth

TRACK 18- Challenges in Rare Diseases Treatment

A basic challenge in diagnosing rare diseases is access to adequate patient data; and in this age of social media. Patients are hard to find, Information is sent, and then there are problems due to visible privacy issues and data ownership. Lack of diagnosis is the most difficult area for families to be in, affecting health, survival, well-being, and, more often, the patient's personality. However most of the rare diseases have no treatment and still many of them losing their as they couldn’t find accurate diagnosis for some kind of rare diseases.

• Accurate Diagnosis
• Endpoint Selection
• Patient Availability and Recruitment
• Finding the Right Sites
• Commercialization

TRACK 19- Infectious and Rare Diseases

Infectious diseases are caused by the entry and manifestation of pathogenic bacteria, viz. bacteria and viruses. Many infectious diseases require a carrier to enter the human body system. These carriers can be lice, houseflies, mosquitoes, animals, etc. Once inside, these bacteria replicate themselves and exploit the normal functioning of the body's tissues and thus cause disease. Cholera, malaria, typhoid, common cold, flu are just some of the infectious or contagious diseases that spread from person to person or through water, air, and food.

• Infectious and Rare Diseases
• African sleeping sickness
• Amoebic meningitis
• Anaplasmosis
• Babesiosis

TRACK 20- Drug discovery

Drug discovery is the way new drugs are discovered. Historically, drugs were widely available by identifying the active ingredients from traditional medicine or by accident. Subsequently, ancient pharmacology was used to investigate chemical libraries including small molecules, natural products, or extracted plants, and to obtain those with therapeutic effects. Since human DNA sequence, reverse pharmacology has found a cure for existing diseases by experimentation. Disease procedures, chemical tests, existing treatments with side effects, and new technologies promote drug availability.

• Discovery and Development
• Preclinical Research
• Clinical Research
• FDA Review
• Metabolization
• Excretion information.