In a world first, Chinese scientists have reported editing the genomes of human embryos. The results are published in the online journal Protein & Cell and confirm widespread rumours that such experiments had been conducted — rumours that sparked a high-profile debate last month about the ethical implications of such work.

In July 1956, in a fishing village near the city of Minamata on Japan’s Shiranui Sea, a baby girl named Shinobu Sakamoto was born. Her parents soon realized something was wrong. At 3 months old, when healthy babies can hold up their heads, Sakamoto could not. She grew slowly and began crawling unusually late. At age 3 years, she drooled excessively and still couldn’t walk. Her parents sent her to live at a local hospital, where she spent four years in therapy to learn to walk, use her hands, and perform other basic functions.

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy. The mutational screenings of RPE65 and other LCA genes are requisite in support of emerging gene specific therapy for LCA. Therefore, we have carried out a comprehensive LCA genes screening using a combined approach of direct sequencing and DNA microarray based Asper chip analysis.

Acute lymphoblastic leukemia (ALL) is the commonest childhood malignancy and is characterized by recurring structural genetic alterations. Previous studies of DNA methylation suggest epigenetic alterations may also be important, but an integrated genome-wide analysis of genetic and epigenetic alterations in ALL has not been performed.

The population of India is extremely diverse comprising of more than 3,000 ethnic groups who still follow endogamy. Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. The data on the prevalence of β-thalassemias and other haemoglobinopathies in different caste/ethnic groups of India is scarce.

In 1965, health authorities in Camberwell, a bustling quarter of London's southward sprawl, began an unusual tally. They started to keep case records for every person in the area who was diagnosed with schizophrenia, depression, bipolar disorder or any other psychiatric condition. Decades later, when psychiatrists looked back across the data, they saw a surprising trend: the incidence of schizophrenia had more or less doubled, from around 11 per 100,000 inhabitants per year in 1965 to 23 per 100,000 in 1997 — a period when there was no such rise in the general population.

Acute infectious and chronic diarrheal diseases are important public health problems. A recent study by Fiskerstrand and colleagues identified a family with a rare early onset familial diarrhea. By linkage analysis and exon sequencing, the authors identified a heterozygous missense mutation in GUCY2C, encoding the guanylate cyclase C receptor, which is involved in intestinal secretion.