In this article we discuss the steps taken by the United States (US) and the European Union (EU) to meet the health care needs of children with rare diseases and suggest possible directions for future endeavors for further improvement. We reviewed 23 reports and nine legislative documents related to pediatric rare diseases and public policy. We assessed the outcome measures of access and satisf...

➣ Although definitions vAry by jurisdiction, diseAses that affect approximately 1 in 2000 people are considered rare. 1 Canada is one of only a few developed countries without a national " orphan drug " program to protect patients with rare diseases from exorbitant drug costs. Public debate concerning government funding for these drugs is periodically stimulated by stories of patients who are d...

Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.

Scientific, technical and medical advances continue to raise consequential ethical questions and dilemmas also in the field of rare diseases. Difficult and complex issues of medical ethics in rare diseases are presented and several different ethical problems, like those regarding inborn errors of metabolism, are discussed.

Genetics is an area of biology that focuses on the study of heredity and the investigation of inherited characteristics. In the past twenty years, initiatives such as the Human Genome Project have enabled us to amass great knowledge on the relationships between genes, mutations and the molecular pathways that are involved in disease diagnosis and prognosis. Nevertheless, there are still a numbe...

Immunologists/allergists are a physician group that is familiar with caring for patients with rare diseases. Conditions that come under the umbrella of our specialty include various primary immunodeficiency diseases, mast cell disorders, various autoinflammatory diseases and diseases of the complement cascade including Hereditary Angioedema (HAE). A rare or orphan disease is defined by the Euro...

With more and more treatments becoming available for people with rare diseases, we encounter the issue of ageing more often. A number of patients with rare, chronic diseases have experienced a number of remarkable transitions in their lives. The most important transition is the one from no treatment at all to treatment becoming available, like in haemophilia about 45 years ago. Another transiti...

A rare disease is defined by the federal government as any condition that affects fewer than 200,000 people in the United States. Rare diseases can be distinguished from neglected diseases, such as malaria, hookworm, or Chagas disease, in that neglected diseases receive less attention because although common they are uncommonly found in this country. As so defined, there are 6000 rare diseases ...

Rare diseases are usually defined as entities affecting less than 1 person per 2,000. About 7,000 different rare entities are distinguished and, among them, rare diseases of the thyroid gland. Although not frequent, they can be found in the everyday practice of endocrinologists and should be considered in differential diagnosis. Rare non-neoplastic thyroid diseases will be discussed. Congenital...

According to the Regulation (EC) N. 141/2000 of the European Parliament and of the Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000 distinct rare diseases affect up to 6% of the total EU population. Therefore, these conditions can be considered rare ...