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Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, a regulator of mRNA splicing. Genes mutated in other cohorts examined for NDD were enriched in CHD cases, particularly those with coexisting NDD. These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.

The article reports on the possible impact when Lee Myung-bak takes a president of the Ministry of Science and Technology (MOST) on February 5, 2008 in South Korea. According to reports, the new position of the former construction magnate in the MOST led research community to worry since he has pledged to eliminate four of 18 ministries with final details to come. In addition, speculation points out that the education components of the science ministry will be handled to the Education Ministry while the rest of MOST is folded into other ministries.

This article reports that South Korean cloning researcher Woo Suk Hwang has asked the journal "Science" to retract his celebrated paper reporting the creation of embryonic stem (ES) cells from 11 patients suffering from diabetes, an immune system disease, and spinal cord injury. But as "Science" went to press, Hwang was insisting that, contrary to the claims of a collaborator, his team succeeded in creating these patient-specific stem cells and that they intend to replicate their results. Pressure on Hwang and his group has been growing as scientists and the press have raised questions about the evidence presented in the paper, first published online in May this year. In the 2005 paper, another group led by Hwang reported that they had established 11 ES cell lines from embryos cloned from patients, a step toward someday making genetically matched replacement tissue. But in early December 2005 on a Korean Web site, an anonymous writer, who claims to be a life scientist, pointed out duplications in some of the photographs of ES cells published in the 2005 paper. According to a "Science" statement, a few hours later Hwang notified "Science"'s editorial offices of what he called an unintentional error that led to about 4 pictures being used redundantly.