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News in the UK

Insights from patients and the medical professionals of the rare disease community: results from a survey in US and UK

The Rare Disease Impact Report commissioned by Shire Human Genetic Therapies and developed in collaboration with an external advisory board reveals responses to more than 1,000 survey participants from a multi-stakeholder audience sample, to enlighten us on some extremely important aspects that affect rare disease patients on a daily basis. The report acknowledged that on average it takes more than seven years in the US and five years in the UK for a patient with a rare disease to receive a proper diagnosis which includes visits to up to eight physicians and they are typically misdiagnosed about two to three times. They also found that physicians (both primary care and specialists) often lack the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases. The report states that around half of the patients and caregivers receive conflicting information from different health care professionals about treatment options in both US and UK, while half of the physicians stated there aren't enough opportunities to network with other physicians who treat rare diseases. Additionally, more than half of patients and caregivers voiced the need to furnish their healthcare professionals with information on their rare disease. The report also estimated the economic impact of diagnosing and managing rare diseases which is significant. * Read the report

UK leads pioneering efforts to eliminate mitochondrial diseases

Due to extensive public support, UK may legalise procedures that prevent children from inheriting the mutations of mitochondrial DNA from their mother. This procedure involves replacing the nucleus of the egg cell with the diseased mitochondria with a healthy donor cell. Two methods for this type of“reproductive-gene-therapy”, the maternal spindle transfer and pronuclear transfer, have been now successfully tested in animals as well as in human cells. Although additional experiments are recommended, an independent scientific review believe that there is "no evidence to suggest that these techniques would be unsafe in humans". Nuclear transfer procedures are banned under the UK Human Fertilisation and Embryology Act, but the government could amend the law for procedures used to treat mitochondrial diseases. The considerable support received during public consultations on this topic was followed by the UK Human Fertilisation and Embryology Authority (HFEA) to voting on “advis(ing) the government on the regulation of the techniques”. After the UK government determines whether a legislation to legalise the procedures will be written, the UK Parliament may pass a law after consultation with the HFEA. The HFEA stresses that if legalised, only a handful of women would be candidates for this kind of procedure but it would be highly beneficial to them and to the society at large. They also emphasised that much more research into the safety and efficacy of this procedure is needed and “the first trials are still likely to be years away”. * Read the article on this topic in Nature