Other rare diseases could be the result of an infection or allergy. In many cases theexact cause is unknown. Some cancers are also rare diseases. Rare diseases tend to appear in childhood. Approximatelytwo-thirds of those living with a rare diseaseare children. They are, unfortunately, usually...
But diagnosis is only part of the puzzle. People with rare diseases typically need complex care from large teams of health professionals because with many rare diseases, several body systems are affected. Also, given the often-progressive nature of the condition, care needs can change—sometimes d...
Rare diseases affect a lot of patients. The current estimates from the National Institutes of Health and others are that there are more than 7000 rare diseases that affect 8%-10% of the population. It is a really difficult number to prove, because many aren't reported and we don't have ...
Many of the rare diseases are caused by single gene mutations, often occurring as inherited diseases with a simple Mendelian pattern of inheritance. In the past few decades, most of the scientific breakthroughs in disease research have come from research in the rare diseases. No such comparable ...
Rare diseases (RDs) are life-threatening or chronically debilitating and offer a high level of complexity. The aim of this study is to assess medical students' knowledge and awareness of RDs as well as their perceptions of potential measures to boost training in RDs. The cross-sectional survey...
Most patients with rare diseases are very short, even as adults. There are many reasons for this. Some are born small because they don’t grow well in the womb. After birth, they don't have the growth to catch up, so they grow very short, which is even more heartbreaking for their...
But these days, we do have an approved gene therapy, and also a lot of clinical trials focusing on gene therapy for a variety of Inherited Retinal Diseases. So on this Rare Disease Day, I think the future of Inherited Retinal Diseases as it comes to gene therapy is bright...
On the other hand, rare genetic diseases with a cellular effect can also cause a lot of perplexities and issues for children who are victims of RGD. For instance, the Niemann-Pick Disease is a typical cellular genetic disease. Niemann-Pick disease (NPD) is inherited in an autosomal recessive...
Many rare cancers are essentially an enigma, with little to no information in the medical literature. Defining a rare cancer is not as easy as it might seem. As a guide, generally an incidence of fewer than 6/100,000 is considered rare. Much of the research regarding rare diseases is in...
Fabry disease is a rare inherited condition characterized by the toxic accumulation of a fatty substance called globotriaosylceramide (Gb3) in the body’s cells. This buildup impairs organ function, especially in the kidneys and heart. The disease is also known as Anderson-Fabry disease, after...