For a tiny subset of patients, allogeneic hematopoietic stem cell transplantation (allo-HSCT) or solid organ transplantation can be used to cure their genetic disease, but for the vast majority of patients there is no cure and at best they are treated by management of symptoms. Some, such as sickle cell disease, affect tens of millions of people around the world and are only ‘rare’ in certain parts of the world, including the US, Europe and far east Asia. While all of these diseases are classified as ‘rare’ in the US because they affect fewer than 200,000 people, they may affect over 400 million people worldwide. Today, we recognize that there are at least 8000 human diseases that are caused by mutations in single genes (monogenic diseases) the number increases almost every day. In 1901, Sir Archibald Garrod identified alkaptonuria as the first known human genetic disease.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |