5^th Annual Congress on Rare Diseases and Orphan Drugs August 29-30, 2018 Boston, Massachusetts, USA

Clinical research is a branch of healthcare science. The first step in confronting this challenge is regularly getting the community to think about participating in clinical research. People need to consider how they can help advance the prevention, diagnosis, and treatment of disease. It is never too early to consider contribution whether or not someone finally chooses to join a study.

Diagnostic error in medicine is common. For example, a study from an intensive care unit demonstrated nearly 20% discordance between the clinically-defined cause of death and findings at post-mortem examination. Not surprisingly; therefore, the diagnosis of rare diseases is often delayed. Rare diseases affect likely 2-4% of the population. These diseases often have a genetic basis, either as uncommon recessive conditions or as the result of “de novo” genetic mutations not present in either parent. They can take varied and often debilitating form.

There are around 7,000 rare diseases, which from a regulatory outlook are defined as those diseases where there are less than 200,000 patients in the US or that affect no more than five in 10,000 of the general population in the EU. Orphan drugs are medicinal products envisioned for diagnosis, prevention and treatment of life-threatening rare diseases. They are "orphans" because the pharmaceutical industry has little interest under normal market conditions in developing and marketing drugs intended for only a small number of patients suffering from very rare conditions.

Globally, about one-third of human deaths are attributable to infections. In addition, the so-called non-infectious causes of death often have a mysterious infectious etiology. Many rare diseases or orphan diseases caused by infectious agents rather than genetic or environmental factors.

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 if- 1. It starts in an uncommon place in the body, 2. The cancer is an unusual type and may need special treatment, 3. It is not one of the common types of cancer.

Aging is a collection of degenerative changes that occur in organisms that lack the ability to perpetually regenerate. Age is a major risk factor for most common neurodegenerative diseases. Dementia becomes more common with age. The spectrum includes mild cognitive impairment, Alzheimer's disease, cerebrovascular disease, Parkinson's disease and Lou Gehrig's disease. Rare diseases provide much insight into the cellular processes that hasten the aging process.

The development of pharma industries has slowed in recent years because of many reasons such as patent expiries, generic competition, drying pipelines, and increasingly stringent regulatory guidelines. Many blockbuster drugs will lose their exclusivity in next 5 years. Therefore, the current economic situation plus the huge generic competition shifted the focus of pharmaceutical companies from the essential medicines to the new business model — niche busters, also called orphan drugs.

A clinical trial is a medical study conducted to test the effects of a new or already existing drug, of a biological treatment or of a medical device that might treat or curb a disease already identified. The main goal of a clinical trial is to compare two or several groups of subjects, by using two or several treatments in order to determine the efficacy of a drug or of a biological treatment. Clinical trials are carefully and ethically conducted in order to protect patients against unwanted adverse reactions and to allow collection and accurate analysis of the information concerning the disease.

This track outlines the moral dilemma of funding orphan drug research and development. To date, ethical aspects of priority setting for research funding have not been an issue of discussion in the bioethics debate. Conflicting moral obligations of beneficence and distributive justice appear to demand very different levels of funding for orphan drug research. The two types of orphan disease, rare diseases and tropical diseases, however, present very different ethical challenges to questions about the allocation of research funds. The dilemma is analyzed considering utilitarian and rights-based theories of justice and moral obligations of non-abandonment and a professional obligation to advance medical science. The limitations of standard economic evaluation tools and other priority setting tools used to inform health policy decision makers on research funding decisions are outlined.

Work over the past 25 years has resulted in the identification of genes responsible for ~50% of the estimated 7,000 rare monogenic diseases and it is predicted that most of the remaining disease-causing genes will be identified by the year 2020 and probably sooner. This marked acceleration is the result of dramatic improvements in DNA-sequencing technologies and the associated analyses. We examine the rapid maturation of rare-disease genetic analysis and successful strategies for gene identification. We highlight the impact of discovering rare-disease-causing genes, from clinical diagnostics to insights gained into biological mechanisms and common diseases. Last, we explore the increasing therapeutic opportunities and challenges that the resulting expansion of the 'atlas' of human genetic pathology will bring.

Rare disease drug development could benefit substantially from increased patient engagement and input to enhance understanding of the key aspects of disease impact, ways to measure these impacts and patients' perspectives on the benefit-risk profile of potential therapies.

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