6th International Conference on Rare Diseases and Orphan Drug

Huntington’s disease Huntington’s disease sometimes called Huntington’s chorea. Generally, it is a rare and fatal inherited disease of the central nervous system. It is caused by a single dominant allele, which means that heterozygous individuals will develop the disease. This disease causes damage to brain cells, leading to a gradual loss of coordination, a decline in mental ability and changes in personality. Around 4,800 people in the UK have Huntington’s disease. Types of HD There are two types of Huntington’s disease. 1.           Adult-onset - Adult onset is the most common type of Huntington’s disease. Symptoms usually develop in their mid-40s and 50s . Initial signs often include: Depression Irritability   Hallucinations  Psychosis 2.       Early onset - This type of Huntington’s disease is less common. Symptoms usually start to appear in Children and teenagers, which is very rare . Children with Huntington's disease often

Most brain disorders arise due to a mix of genetic, environmental, and lifestyle factors. Inheriting the genetic predisposition to develop a brain disease does not always mean that any person will have the symptoms of the disease, and the symptoms for some brain diseases may vary even in the same family. While we do not yet know the genetic causes of all brain diseases, we do know that in some families, there are many individuals who develop a specific disorder, for example, Alzheimer disease (AD), which tends to follow a similar medical course. For other disorders, it may be more unusual to find more than one person with the disease in any given family or the disorder may manifest itself differently in related family members. Many studies these days include whole exome or whole genome sequencing, where hundreds of differences in the genetic code can be detected. Other studies may look at another single gene or panel of genes that seem promising to the investigator. Another