This is the first trial reporting successful transplant
in dyskeratosis congenita (DC) patients without the use of any radiation or conventional cytotoxic chemotherapy beforehand.
Not exact matches
«One of our killifish mutants recapitulates, but
in a rapid manner, a human disease called
Dyskeratosis congenita, which is due to deficits
in a complex involved
in maintaining the end of chromosomes, or telomeres,» says lead author Dr. Itamar Harel, a postdoctoral research fellow
in genetics.
Dysfunction
in telomere maintenance pathways plays an integral role
in aging, cancer, and certain rare diseases such as
dyskeratosis congenita (DC).
Dr. Agarwal is currently interested
in the mechanisms and therapy of genetic blood diseases, with a focus on
dyskeratosis congenita.
CAST / EiJ mTR — / — mice exhibit significant deficits
in tissue renewal during adulthood, even
in the first generation, and progressive worsening of the phenotype with successive generations, similar to what is seen
in other background strains with these mutations and
in the genetic anticipation observed
in successive generations of families with autosomal dominant forms of the human genetic disorder of telomerase components,
dyskeratosis congenita.