Finally, GPR17 has been shown to regulate the oligodendrocyte differentiation and myelination that plays a role in several neurological diseases, including schizophrenia37. Discussion In this study, we have described a gene burden analysis of a large cohort of rare disease cases and identified 69 ...
Track 14:Viral Infectious Diseases Viral Infectious Disease happens when a life form's body is attacked by pathogenic infections, and irresistible infection particles(virions)append to and enter vulnerable cells. There are numerous sorts of infections that cause a wide assortment of viral sicknesses....
Prion diseases cause dementia, but not Alzheimer's disease. Different genes and proteins are involved in Alzheimer’s. But in all these diseases, including Alzheimer’s, the cause is proteins that don't work the way they should and damage brain cells. Alzheimer's symptoms may get worse slowly...
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...
Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attrac
These diseases may seem to be rare, but there is a significant figure that highlights just how many people are living with it but that gets a little attention due to their singularity. The challenges they face are common to millions of people across the world. The challenges ...
Background and Aim In Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were identified, and almost 80% of them have a genetic cause. Many rare disorders are characterised by a broad diversity of common symptoms and ...
PTC is an established global biopharmaceutical company that delivers transformative therapies for people living with rare diseases. For 25 years, we have been harnessing our scientific platforms to create new therapies that address the underlying cause of the disease and deliver on our promise to creat...
particularly for diseases that caused premature death or diminished reproductive capacity. Advances in our fundamental understanding of primate genomes, the reduced cost of whole genome sequencing, and the subsequent large-scale identification of nonhuman primate genetic variation have not only allowed for ...
is powerful in its own right and can provide insights into rare human diseases that DNA cannot. Stephen Montgomery, Ph.D., associate professor of pathology and of genetics at the School of Medicine, is among the scientists harnessing RNA to identify the cause of rare diseases that have eluded...