Book Review: Risky Genes - Genetics, Breast Cancer and Jewish Identity

Forty years ago I began to realise that the most interesting work in medicine lay at the interface of different specialties. Researchers who straddle such boundaries gain important insights but the experience can be daunting... [Read More]

Danish sperm donation law tightened after donor passes on rare genetic disease

The Danish Government is currently reviewing its guidelines on sperm donation policies following the discovery that a donor has passed on a rare genetic condition to at least five children... [Read More]

'Marry out?' Some surprising consequences of genetic disease risk among Ashkenazi Jews

Ashkenazi Jews have historically been an endogamous population. Marrying within the group remains important to many Jews because endogamy is seen as one way to preserve Judaism and ensure the survival of future generations. In the wake of the Holocaust, and amidst a steadily decreasing Jewish population, Jewish survival has great cultural relevance... [Read More]

Genetic flaw leaves no trace – mutation causing a lack of fingerprints identified

Imagine getting to immigration and struggling to get into a country, not because you don't have a passport or legal status, but because you have no fingerprints. People with adermatoglyphia, also known as 'immigration delay disease', have missing fingerprints from birth, and have reduced levels of sweat glands in their skin. Researchers now think they have isolated the genetic mutation behind this rare disorder.... [Read More]

New PGD technology guidelines published for the genetic testing of IVF embryos

The European Society of Human Reproduction and Embryology (ESHRE) has published an updated set of best practice guidelines for fertility clinics on the use of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) techniques... [Read More]

Huntington's disease more common than previously thought

Two papers published in the Lancet have suggested that the number of people in the UK suffering with Huntington’s disease (HD) may be double original figures and that patients are failing to be diagnosed due to the stigma attached to the illness... [Read More]

Correction: Sperm screening needs to be overhauled

In BioNews 535, we published a commentary by Wendy Kramer in which she stated that 'using a donor with reciprocal translocations is potentially even more likely to produce sick children than donors with autosomal dominant disorders. The chances for a chromosomally abnormal child are thirty out of thirty-two (Scriven, 1998)'. However, this interpretation is incorrect and potentially misleading, the author of the paper has since informed us.... [Read More]

Sperm donor screening needs to be overhauled

Writing in the 26 May 2009 edition of BioNews, the Donor Sibling Registry reported about the recent birth of a severely handicapped and profoundly retarded baby girl who had inherited an unbalanced translocation from New England Cryogenic Center sperm donor D-250. Now, the same problem has been disclosed as occurring at the London Women's Clinic. A donor was found to be a balanced translocation carrier only after his semen had been widely commercialised. A couple had to destroy 22 embryos c... [Read More]

RNF135 is responsible for a new overgrowth syndrome

Dr Deirdre Cilliers has won the inaugural Alan Emery Prize for her paper 'Mutations in RNF135, a gene with in the NFL microdeletion region, cause phenotypic abnormalities including overgrowth' (1). The award is made by the Royal Society of Medicine's Medical Genetics Section. Professor Alan Emery, a distinguished geneticist with... [Read More]

Progress in free fetal DNA (ffDNA)-based prenatal tests

The holy grail of prenatal diagnosis has been the identification of chromosome and single gene abnormalities through maternal blood sampling. This would allow safe accurate prenatal diagnosis, requiring much lower operator skills, and automation is potentially possible, making it cost-effective. In contrast, standard prenatal screening involves ultrasound and biochemical risk... [Read More]

Genetic Interest Group (GIG) response to proposal to end cousin marriage

British Pakistanis are under the spotlight yet again, this time not for alleged links with terrorism, but for the practice of cousin marriage. Last week in BioNews, Ann Cryer, Labour MP for Bradford, re-presented her case against cousin marriage. This followed the 'Newsnight' special report (16 November) highlighting that British... [Read More]

Gene therapy prevents brain disease symptoms in mice

Performing gene therapy on mice can prevent the symptoms of a hereditary brain disease called spinocerebellar ataxia (SCA). This discovery, made by a research team from the University of Iowa, US, has prompted hopes of similar treatments for related brain disorders such as Huntington's and Alzheimer's. Unlike other gene therapy... [Read More]