Promise of blood test to predict course of Huntington's disease
Scientists have identified the first promising biomarker for Huntington's disease (HD) that could be harnessed in a simple blood test to predict disease onset and progression...
BioNews
22 articles
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...
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...
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
'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...
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....
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...
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....
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...
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...
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...