Rodney Harris

TL;DR: It is shown that some families with WS have mutations in the human homologue9 of Pax-3, which is one of a family of eight Pax genes known in mice which are involved in regulating embryonic development and which contains a highly conserved transcription control sequence, the paired box.

TL;DR: Women who had previously given birth to one or more infants with a neural-tube defect were recruited into a trial of periconceptional multivitamin supplementation and found no difference in the number of infants/fetuses with an NTD.

TL;DR: In accordance with a previous protocol, a second cohort of 254 mothers with a history of previous neural tube defect births was before a subsequent conception and continued until the time of the second missed menstrual period, finding no recurrences among the offspring of a further 114 mothers whose duration of supplementation fell short of the full regimen.

TL;DR: The difference in outcome between FS and US mothers is significant, and the most likely explanation is that supplementation has prevented some neural tube defects, but further studies are needed.

TL;DR: Predictive testing by means of gene probes was offered to 110 adults at risk of Huntington's disease andfetal exclusion testing was rarely requested, and then only by individuals who lacked the necessary pedigree structure for predictive testing for themselves.