Rare diseases and
Are the diseases that
affects the small number of people or small percentage of population. Many
rare diseases appeared early in life, and about 30 percent of children with
rare diseases will die before reaching their 5th birthday. These are mostly
genetic disorders. Some examples of Rare diseases are
syndrome: Affects males who exhibit a characteristic set of facial, skeletal,
and genital abnormalities. Males have a rounded face with a broad
Ouccered due to the protozoa. In human babesiosis infection may cause fever,
chills, headache, nausea, vomiting, muscle aches.
Syndrome: It is genetic disorder in which distinctive malformations of the
head and facial area and abnormalities of the feet.
There are some
technologies are present to discover the Rare and Undiagnosed Diseases
those are given below
sequencing (NGS) technology: This technology used for rare and undiagnosed
disease research to discover causative variants of inherited disorders by
assessing many genes at a time. By using NGS we can reduce costs compared to
traditional methods, which are often expensive and inconclusive while requiring
Diseases Network (UDN) has been established by the National
Institutes of Health common fund across the country to diagnose both rare
and new diseases.
The aim of this
program is to bring together clinical and research experts from across the
United States to solve the most challenging medical mysteries.
- Mechanisms of rare disease and new disease discovery
- The Needs of rare and undiagnosed disease patients
- Therapeutics for rare diseases and undiagnosed diseases
- Discovery and models of precision therapy
- Orphan drugs- development trends and strategies