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21 June 2004It was announced today that the MRC will provide £1.5 million in funding to establish the MRC Cambridge Centre for Stem Cell Biology and Medicine as the core of the Cambridge Stem Cell Institute (see MRC press release). The University of Cambridge has already contributed £10 million for the new interdisciplinary centre to be established as a centre of excellence in stem cell genetics, biology and medicine, with the aim of harnessing knowledge to develop stem-cell based treatments for human diseases such as diabetes, multiple sclerosis, Parkinson’s and Alzheimer’s diseases.
The new MRC Centre, which is co-funded by Juvenile Diabetes Research Foundation (JDRF) and will be directed by Professor Roger Pedersen, is intended to facilitate the movement from basic stem cell research to clinical applications. Other key researchers at the centre will include Professors Azim Surani, Anne Cooke, Charles ffrench-Constant, Tony Green and Dr Sarah Bray. Research at the Centre will focus on understanding the genetic and cellular mechanisms involved in the ability stem cells have for self-renewal and growth into any kind of body tissue, and on developing stem-cell based therapeutic measures to replace cells that have been lost due to disease.ss
Welcoming the MRC funding, Professor Pedersen said: "Stem cell research has a profound potential for treating currently debilitating diseases…and thus has the capacity to markedly improve the quality of life", whilst Professor Alison Richard, Vice-Chancellor of the University of Cambridge, commentsed: "The research of these scientists is of immense medical significance, and I am confident that it will bring breakthroughs of huge benefit for human health and well being" (see University of Cambridge press release). The MRC Cambridge Centre for Stem Cell Biology and Medicine will form part of co-ordinated research programmes in stem-cell research the UK.
28 June 2004A team of scientists from Monash University in Melbourne, Australia, have developed a new technique for genetic testing of embryos, based on microarray technology. Microarrays, also known as gene chips, are systems that enable the rapid and simultaneous analysis of thousands of DNA sequences. The researchers have found that they can be used for pre-implantation genetic diagnosis (PGD) of cystic fibrosis. Cystic fibrosis (CF), an inherited disease that affects the lungs and digestive system, is the most common life-shortening genetic disorder in the UK, with an overall birth prevalence of about 1 in 2500. Around 1 in 25 people carry a gene with a cystic fibrosis mutation; if a baby inherits one such gene from each parent then it will have the disease. The identification of embryos affected by and free from cystic fibrosis is one of the current uses of PGD.
The advantage of using microarrays is that multiple different mutations can be screened for at once. Although there is a single very common mutation associated with Cystic Fibrosis (the Delta F508 or ÄF508 mutation), there are many other less common mutations that can cause the disease, some very rare. Presently, parents may have to wait several weeks for embryos to be screened for a selection of the most common mutations. Ms Chelsea Salvado, a member of the Monash research team, is reported as having said: "Microarray technology will lead to semi-automated genetic testing for both PGD and prenatal diagnosis, providing a rapid diagnosis, thus reducing the stress of couples waiting for a result…The introduction of microarray technology could lead to PGD being offered for all genetic diseases in the future” (see BBC news report). Microarrays could also be used in prenatal testing for cystic fibrosis and other genetic disorders.
The technique, presented by the Australian researchers at the Annual Meeting of the European Society of Human Reproduction and Embryology in Berlin this week, requires the use of ten cells removed from embryos of between five and six days old, when the embryos have around 100 cells. At present most PGD tests are performed using single cells taken from three-day old embryos, which have eight cells in all, but the method of DNA amplification was not reliable for a single cell from these younger embryos.
23 June 2004Health Minister Lord Warner announced today that £4 million of funding will be devoted to pharmacogenetic research. The awards are part of the funding strategy announced in the Genetics White Paper last year (see newsletter article June 2003). The winning bids come from six institutions, primarily in the north of England. Their research projects all examine patients’ genetic susceptibility to specific drugs, the aim of pharmacogenetic studies.
In the future it is hoped that, based on a person’s genetic makeup, doctors will be able to determine how that individual will react to a certain drug or drug dosage. With this knowledge, patients can be prescribed a specific drug or treatment that will be effective for them that will avoid adverse reactions, so-called personalised medicine. While the research that will produce such individualised treatment is still in its infancy, with some critics believing it will never become reality, the government is committed to translating genetic advances into patient care. As Lord Warner stated, "This is part of the government’s commitment to make sure that NHS patients get the full benefit of the latest developments in genetic knowledge.”
The funded projects will focus on different drugs and their reactions in patients. In Salford, researchers will examine whether genetic factors have a role in creating the adverse reactions some patients experience when taking the drug Azathioprine, used to treat inflammatory diseases. In Liverpool, researchers will study whether genetics and environmental factors play a part in the bleeding suffered by some patients taking the drug Warfarin. It is hoped that millions of patients in the future will benefit from these and the other funded studies. A full list of the research projects is available as part of Lord Warner’s press announcement.
9 June 2004The Human Fertilisation and Embryology Authority (HFEA) has announced new guidelines aimed at providing better protection for frozen sperm, eggs and embryos stored at fertility clinics. The guidelines are designed to help prevent incidents of samples being lost due to incorrect storage procedures. If samples are held at too low a temperature they can be rendered unusable. In June 2003, a freezer fault at Southmead Hospital in Bristol caused the loss of sperm samples from 28 men who had stored their sperm prior to cancer treatment. The men, if rendered sterile by their cancer treatment, may now not have another opportunity to have children of their own.
The guidelines require all clinics storing frozen sperm, eggs and embryos to have in place by June 2005 new warning procedures in case of a storage emergency. Alarms and monitoring systems must be fitted to storage vessels. An out-of-hours alarm system to alert staff must be in place, with staff on call to deal with the emergency. The guidelines also state that patient samples should be spread between storage vessels, to ensure that some of the person’s material is protected if one vessel breaks down. While welcomed, there is a question of whether the new storage guidelines will be helpful. Dr Peter Bromwich, a consultant gynaecologist at the London Fertility Centre, noted to the BBC that, “when systems fail, they very rarely fail gradually, but usually catastrophically, and even if you were in the room at the time you might not be able to do very much about it.”
The guidelines are one of a series of HFEA initiatives to improve patient and sample safety. The HFEA has recently formalised an incident alert system that involves the sharing of anonymous adverse reaction data so that clinics can learn from one another and help prevent the reoccurrence of mistakes.
16 June 2004The Human Fertilisation and Embryology Authority (HFEA) will consider today the first application to license work to clone human embryos to treat disease. Researchers from Newcastle have applied to use the technology that created Dolly the sheep, cell nuclear replacement (CNR), to clone the embryos. In CNR, the nucleus is removed from an unfertilised egg and replaced with DNA from the donor. The egg is then stimulated as if it were being fertilised; the resulting embryo is cultured to the stage where it starts producing stem cells. The stem cells will be genetically identical to the donor and can then be implanted without fear of rejection. In the Newcastle study, if successful, the stem cells will be used to explore future treatments for diabetes. Future applications may include treating those with other conditions such as spinal cord damage.
In order to create stem cells that are genetically identical to the donor, embryos must be cloned rather than using existing embryos. Cloning human embryos for therapeutic purposes is legal, however, the procedure is similar to that of reproductive human cloning (cloning to make another human being), which is illegal in the UK. This has caused opponents to send letters to the HFEA asking that they reject the license application. They fear that the information gained from the research will not produce effective therapies but will provide information to those who wish to clone human beings. As Dr David King, from the pressure group Human Genetics Alert, told the BBC, “This research is a waste of public money, and crosses important ethical lines for the first time.” Others disagree. Alistair Kent, Director of the Genetics Interest Group, believes the research is necessary. "If we don't do the research, and it does have the potential, then we are not only ignoring the needs of those who are alive now, but also all future generations as well." The HFEA is expected to announce its decision next week.
11 June 2004A judge in Italy ordered that a couple undergoing IVF treatment had to implant all the embryos created, regardless of any genetic condition the embryos might carry. Under Italian law made earlier this year (see newsletter article February 2004), reproductive techniques are restricted. The law bans freezing and destroying embryos and all embryos created by IVF, limited to three oocytes, must be implanted into the woman. The couple in this case both carry the recessive gene for ß thalassaemia and had wanted to have pre-implantation genetic diagnosis to determine which embryos were healthy, as they did not want to have to abort the pregnancy, and decided to challenge the law on this point. They lost their case and were required to implant the embryos. The British Medical Journal reported that the judge stated that, “…according to the new law, the woman did not have the right to choose to have a healthy baby” (BMJ 2004 328, 1334). Shortly after the transfer, the woman suffered a haemorrhage and lost the embryo, which was later shown to be healthy. The woman claims that the haemorrhage was likely brought on by stress.
The strict fertility law is also being blamed for driving non-sterile couples out of Italy to other countries for treatment, as the law limits any fertility treatment to couples proven sterile. The BMJ notes that specialists and researchers in the field are also leaving. In addition, centres are reporting that success rates in women over 35 are dropping and multiple pregnancies in women younger than 35, who are often implanted with three embryos, are increasing.
23 June 2004The National Institute of Clinical Excellence (NICE) and the National Collaborating Centre for Primary Care (NCCPC) have today released a set of guidelines relating to the classification and care of women at risk of familial breast cancer. The guidance states that women calculated to have a low risk of developing breast cancer (lifetime risk of less than 17%) should normally be cared for in primary care; those found to have a moderate level of risk (lifetime risk of 17-30%) should generally be cared for in secondary care, and those at high risk should receive tertiary level care. High risk is defined as a calculated lifetime risk of 30% or greater, or a 20% or greater chance of a faulty BRCA1, BRCA2 or TP53 gene in the family. Protocols for the management of women at each level of care are set out in the guidelines.
It is proposed that women’s family histories should be taken and risk assessments made in primary care, with appropriate systems in place for the referral of women with moderate-high risk. Key messages that healthcare practitioners should get across to women who are concerned by a family history of breast cancer are highlighted, including that the great majority of women with a family history of breast cancer do not fall into a high-risk category and do not develop breast cancer, and that the great majority of women with a relative with breast cancer are not at substantially increased risk of breast cancer themselves.
The importance of providing patients with both standard written and individually tailored information (including access to psychological support and assessment where appropriate) to allow them to make informed choices and participate in decision-making is underlined. Another key recommendation in the guidelines is that women should be made aware that genetic testing is appropriate only for a small proportion of women who are from high-risk families.Genetic testing should be offered in the context of tertiary care to women who have a 20% or greater chance of a BRCA1, BRCA2 or TP53 mutation in the family and an affected relative available, after two sessions of pre-test genetic counselling. A costings report accompanying the guidelines notes that the main issues with respect to genetic testing in tertiary care are the current backlog of tests, insufficient capacity and a lack of information about specific levels of funding for BRCA1 and BRCA2 testing. Funding made available centrally under the Genetics White Paper to expand and modernise genetic laboratory capacity is anticipated to be sufficient to permit implementation of the guidelines. It is estimated that a one-off cost of £2.2 million would be required to clear the backlog, and a one-off cost of £1.55 million would result from the anticipated increase in women requiring genetic testing. The ongoing annual cost of providing genetic tests to women at high risk is estimated to be £825,000 with a further £440,000 required for the provision of psychological support.
14 June 2004The Department of Health has recently revealed plans to involve pharmacists in the Government’s public health strategy. Contracts have been awarded to four organisations (Pharmacy HealthLink, The Royal Pharmaceutical Society of Great Britain, the Faculty of Public Health and the UK Public Health Association) to form a consortium to work with pharmacists in exploring how they can make greater contributions to public health (see press release).
Announcing the award of these contracts, Minister of State for Health Rosie Winterton said, “The track record of community pharmacists… is evidence of how integral they are to tackling public health issues. But we would like pharmacists do even more and get involved in aspects of care such as checking people's blood pressure and even measuring blood glucose levels. This consortium will help to maximise the contribution of pharmacists, their staff and the premises in which they work, playing a part in helping people enjoy healthier lives by giving them access to more information about their health care”.
It is likely that pharmacists will play a major role in the eventual implementation of pharmacogenetics in the NHS; pharmacogenetics refers to the relationship between genetic variation between individuals and the safety and efficacy of drugs. In the future, it is hoped that pharmacogenetic profiling will allow the selection of the optimal drug and dose to benefit each patient, and prevent many adverse drug reactions. A White Paper on Public Health is to be published later this year, and will include the emerging public health role of pharmacists.
22 June 2004An expert group has been formed to review NHS genetic services and the application of new genetic knowledge in Scotland, to make sure that the NHS in Scotland continues to keep pace with advances in genetics and their healthcare applications. Scottish Health Minister Malcolm Chisholm commented: "The findings and recommendations of the Group will provide a framework within which we can plan and develop our genetic services and maximise opportunities for advances in genetic knowledge to be used to enhance other services currently being offered by the NHS" (see press release).
The group, which will meet for the first time at the end of June, is to be chaired by the former Chief Medical Officer of Scotland, Professor Sir Kenneth Calman. Their intention is to review current genetics services in the light of the Genetics White Paper of June 2003 (‘Our Inheritance, our future – realising the potential of genetics in the NHS'), to consider how current standards can be maintained for existing genetics services and to assess the potential impact of developments in genetics harnessed for the benefit of academia, the biotechnology industry and the NHS in Scotland.
4 June 2004Sperm donors in the Netherlands are no longer allowed to remain anonymous, due to new legislation, and as a result, donations have dropped. The new law gives children born using donated sperm the right to obtain information about their biological father at age 16. In response, the number of donors has decreased and women are now facing a wait of up to two years at one Dutch sperm bank. Anecdotal evidence shows that women are crossing the border to Belgium for treatment, getting sperm from a friend, or using the internet to find treatment on the black market.
Belgium officials have considered adopting the same stance of ending anonymity but no changes are currently planned. The UK Department of Health announced in January that, after April 2005, the UK will end anonymous donations with donor information being available to children when they reach 18 years of age (see newsletter article January 2004). The Human Fertilisation and Embryology Authority (HFEA) has endorsed the plan. They note that when donor anonymity was removed in Sweden, the number of donors dropped at the beginning but then returned to a normal level. The HFEA expects this to be the case in the UK. Whether the number of Dutch donors will rebound remains to be seen.
15 June 2004Scientists at a private US fertility clinic have created embryonic stem cell lines from embryos with genetic defects. Researchers from the Reproductive Genetics Institute in Chicago presented their work at the second annual meeting of the International Society for Stem Cell Research in Boston last week. The embryos were reportedly donated by couples undergoing pre-implantation genetic diagnosis (PGD) at the clinic to avoid the birth of a child with a genetic disorder; embryos affected by these conditions would normally be discarded. Twelve embryonic stem (ES) cell lines have been established with a total of seven different genetic defects: myotonic dystrophy, Duchenne muscular dystrophy, neurofibromatosis type 1, Fragile X and Marfan syndromes, beta-thalassaemia and Fanconi anaemia. These are the first ES cell lines to be derived from embryos with specific genetic diseases; it is hoped that they may be useful for studying the diseases in question and developing new treatments.
Yury Verlinsky, president of the Reproductive Genetics clinic, has said that these and other new stem cell lines will be made available to other scientists engaged in privately funded research. Current restrictions in the US prevents federally funded researchers from using new stem cell lines, limiting them to cell lines in existence in August 2001 when the restrictions came into force. Reproductive Genetics scientists plan to create more cell lines from embryos affected by different genetic diseases.
11 June 2004Support for stem cell research has been boosted in the US as a result of the death of former US President Ronald Reagan. Reagan, aged 93, died on 5 June from Alzheimer’s, after a ten-year battle with the disease. As a result, patient groups and US senators are announcing their support for loosening the restrictions on stem cell research put in place by President Bush. A majority of senators, 58, sent a letter asking for a change in policy to the White House soon after President Reagan’s death. Nancy Reagan had made her support for the research clear in comments made publicly last month. There have been no moves by the White House to respond to the increased pressure; officials continue to state that the policy is fair and that research that falls outside of federal policy can continue in the private sector.
While the increased support for stem cell research is welcomed, some experts warn that a treatment for Alzheimer’s may be slow in coming, while treatments for Parkinson’s and diabetes may be realised more quickly. Alzheimer’s is a very complex disease, involving billions of nerve cells, and the process of cellular replacement of the damaged cells will be difficult. As Lawrence S.B. Goldstein, an expert from the University of California at San Diego, stated in the Washington Post, “We don’t even know what are the best cells to replace initially.” The Alzheimer’s Society acknowledges that Alzheimer’s patients may not be the first to benefit from new treatments discovered by this science. Their web site notes, “In the short to medium term, the benefits of further stem cell research may be to strengthen our understanding of Alzheimer’s disease and use this information to develop further treatments for Alzheimer’s.”