|
| Rare Diseases | |
| The latest rare diseases news from News Medical | |
|
|
|
|
|
| Virginia Tech scientists reveal molecular cause underlying rare genetic disorder Virginia Tech scientists have revealed how a nonfunctioning version of an ordinary gene impairs brain structure and function. The findings help explain a genetic form of microcephaly -- a condition where babies' heads are small and grow more slowly than their peers. | |
|
| Study calls for better data framework to enhance rare disease diagnostic rates A better framework for the reanalysis of genetic data, a game-changing process which could improve diagnostic rates by up to 32 per cent, was needed, a new study has found. | |
|
| Umbilical cord blood safely and effectively treats children with rare genetic disorders Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood - a readily available source of stem cells - safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, metachromatic leukodystrophy (MLD) and an array of immune deficiencies. | |
|
| New project launched to find novel treatments for rare genetic diseases The University Carlos III Madrid, Almirall, S.A. and the MEDINA Foundation have launched a project to find new treatments for recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations. | |
|
|
|
|
No hay comentarios:
Publicar un comentario