Hematopoietic stem cell transplantation (HSCT) has a half-century history. It is currently an indispensable treatment for not only incurable blood diseases such as aplastic anemia and severe hemolytic anemia, but also malignant hematological diseases such as leukemia and lymphoma. Although allergenic HSCT is also used to treat hereditary diseases, its indica‐ tions are restricted because of cri...

In this issue of Blood, Abel et al designed lentiviral vectors (LVs) enabling specific gene delivery into endothelial cells in vivo. This opens new perspectives for gene therapy of hereditary disorders, cardiovascular diseases, and cancer.

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

We propose an approach to predicting implicit gene-disease associations based on the inference network, whereby genes and diseases are represented as nodes and are connected via two types of intermediate nodes: gene functions and phenotypes. To estimate the probabilities involved in the model, two learning schemes are compared; one baseline using co-annotations of keywords and the other taking ...

We describe doublex sequencing of human genomic PCR products using two differently labeled primers in a single reaction and analysis on two automated DNA sequencing devices. Feasibility of the methodology is demonstrated by isothermal and cycle sequencing for two different PCR products and by cycle sequencing on both strands of a single product. It was applied to analyze mutations in patient DN...

Possibilities for treating--or, ideally, avoiding--hereditary diseases have increased enormously with the rapid and radical developments in the field of molecular biology. This report of a WHO Scientific Group deals first with the human genome and the genetic basis of disease, then continues with a review of the epidemiology of genetic disorders and the role of genetic predisposition in various...