Complex genetics of autism unveiled
American researchers have linked hundreds of spontaneous genetic mutations to the group of psychological syndromes called autism spectrum disorders (ASDs)...
A pattern of inheritance displayed by a trait under the control of one gene, akin to the patterns of inheritance described by the nineteenth-century scientist and priest Gregor Mendel.
American researchers have linked hundreds of spontaneous genetic mutations to the group of psychological syndromes called autism spectrum disorders (ASDs)...
The 10th anniversary of the first draft of the human genome sequence has been characterised by justifiable celebration at the extraordinary progress in DNA sequencing technology, yet disappointment with the impact it has had on medicine to date. Is this disappointment also justified? Not really...
The Counsyl 'Universal Genetic Test' has a distinctly 'retro' feel to it. With its focus on Mendelian disorders (i.e. classic genetic diseases like cystic fibrosis), many of the ethical issues raised by this new service are not new themselves, but rather present new challenges...
Genome sequencing is changing its approach to focus more on rare conditions affecting individuals instead of common population-wide diseases. Scientists are abandoning genome-wide association studies (GWAS) which focus on DNA analysis of common diseases and which have been the aim of genomics research in the last decade. They are instead returning to study rare disorders which are traceable to defects in single genes....
Victor McKusick, 86, considered to be a founding father of medical genetics, died on Tuesday at his home in Baltimore, USA. Dr McKusick worked at Johns Hopkins University, USA, and spent over 40 years compiling the 'Mendelian Inheritance In Man' (MIM) database of all known genes and...
by Dr Zuzanna Deans and 1 others
Dr Phillipa Brice's accompanying commentary highlights how non-invasive testing of free fetal DNA (ffDNA) in pregnancy could transform women's experiences of antenatal screening and prenatal diagnosis. NIPD is already available for foetal sex, rhesus D blood type and some Mendelian conditions such as achondroplasia, with tests for aneuploidy detection and...
A team of scientists have found evidence that RNA in the sperm of mice is able to transmit a trait that is not coded for in the animal's DNA. The team, working at the University of Nice, France, were studying a gene called Kit. This gene occurs...
The 50th anniversary of the discovery of the structure of DNA presents a golden opportunity to take stock of what impact this and subsequent discoveries in molecular genetics have had and what it promises for the future of human health and happiness. Genetics is now big business. Worldwide anniversary celebrations...
BioNews, published by the Progress Educational Trust (PET), provides news and comment on genetics, assisted conception, embryo/stem cell research and related areas.