• disease
  • The heterogeneous clinical and laboratory presentation and limited availability of clinically well-annotated patient samples and in vivo models have posed significant obstacles to study the disease and to identify genetic alterations unique to pediatric MDS. (grantome.com)
  • This agent is also frequently used to treat hemochromatosis, a disease of iron accumulation that can be either genetic or acquired. (wikipedia.org)
  • Genomic
  • The team includes David Williams (clinical/translational hematology), Mark Fleming (pediatric hematopathology /hematological genetics), Benjamin Ebert (high throughput genomic technologies in adult MDS) and Kyriacos Markinanos (genetic linkage analysis). (grantome.com)
  • Raza has also used genomic technology to further research the pathology of myelodysplastic syndrome, as well as RNA Sequence and global methylation studies, and was a part of US President Barack Obama's "cancer moonshot" program, reporting to Vice-President Joe Biden. (wikipedia.org)
  • exposure
  • It can be difficult to prove a connection between a suspected exposure and the development of MDS, but the presence of genetic abnormalities may provide some supportive information. (wikipedia.org)
  • cancers
  • Loss of heterozygosity can be identified in cancers by noting the presence of heterozygosity at a genetic locus in an organism's germline DNA, and the absence of heterozygosity at that locus in the cancer cells. (wikipedia.org)
  • diseases
  • The study of copper's genetic diseases, which are the focus of intense international research activity, has shed insight into how human bodies use copper, and why it is important as an essential micronutrient. (wikipedia.org)
  • specific
  • While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown. (wikipedia.org)
  • Researchers
  • This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region. (wikipedia.org)