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The report Health is Global: a UK Government strategy notes that health is a ‘global public good’ benefiting societies around the world, and that “Public health interventions, such as a cure for a disease, communicable disease control or the dissemination of research, are also global public goods”. Addressing issues that relate to monitoring and control of infectious diseases that could threaten public health in the UK and those that primarily affect the developing world are one of the main concerns of the report, but several other areas are also explored.
4 October 2008
29 September 2008A new paper profiled in the Genomics & Health Weekly Update from the National Office of Public Health Genomics, and published in the CDC’s Mortality and Morbidity Weekly Report reports on the impact of the expanded newborn screening programme in the US. Screening newborns for a much larger panel of different disorders became feasible due to the advent of advanced tandem mass spectrometry (MS/MS). In 2005 the US Department of Health and Human Services’ Maternal and Child Health Bureau (MCHB) commissioned the American College of Medical Genetics (ACMG) to make recommendations about expanded newborn screening, and a panel of 29 ‘core’disorders was proposed (see previous news). The Federal Advisory Committee on Heritable Disorders in Newborns and Children endorsed this panel, and most US states began to implement the expanded newborn screening from 2006.
25 September 2008
The Human Microbiome Project (HMP) was launched at the beginning of this year by the US National Institutes of Health (NIH) with the aim of generating resources to enable a better understanding of the various microbes that inhabit the human body and their influence on health and disease (see previous news).
22 September 2008
The Embryo Research Licensing Committee of the Australian National Health and Medical Research Council (NHMRC) issued its first licences, allowing scientists to clone human embryos using somatic cell nuclear transfer (SCNT) in order to obtain stem cells (see press release). The licences have been granted to Sydney IVF and if the company is successful, it would be the first production of stem cells from cloned embryos for therapeutic purposes, as opposed to medical research. A national ban on therapeutic cloning in Australia was lifted in December 2006 (see previous news) and since then several states have also lifted their prohibition on therapeutic cloning (see previous news).
19 September 2008Two US medical centres have announced that they will launch the first systematic newborn screening programmes for the inherited disorder fragile X syndrome using a new blood spot test. Fragile X results from the expansion of a CGG repeat sequence on the X chromosome FMR1 gene; normally under 55 repeats, expansion to 55-200 repeats is classed as a pre-mutation (PM) and above 200 repeats is classed as a full mutation (FM). Of individuals with a full mutation, all males and around half of females have the disease, which causes learning disability and behavioural problems, with around 1 in 4000 males and 1 in 8000 female affected in the general population. Males typically show more severe learning disability than females, and Fragile X is the most common inherited form of learning disability.
18 September 2008
In the August issue of PLoS Genetics, an article described a new forensic DNA analysis technique which is able to identify the DNA of one individual in the midst of a large sample. The paper by Homer et al. describes how statistical analysis of data from single nucleotide polymorphism (SNP) data sets could be used to resolve individual genotypes [Homer N et al, (2008) PLoS Genet. 4(8), e1000167]. This technique is a major breakthrough for forensic science as it will allow identification of an individual’s DNA even if it only constitutes 0.1% of the whole mixture in the sample. The technique can allegedly also be applied to individual participants in data obtained from genome-wide association (GWA) studies, although identification would require prior knowledge of the SNP profile of the individual concerned, or a close relative. Despite the remote possibility of identification of individual participants in GWA studies, some institutes such as the US National Institutes of Health (NIH) and the Wellcome Trust have, since the publication of the article, restricted access to genetic data on grounds that it throws into question previous consent procedures and approaches to privacy and confidentiality in such research (reported in Science).
15 September 2008
A new public centre, whose aims are to offer stem cells to match a diverse population, was opened on the 11th of September by the Health Secretary Alan Johnson (see press release). The Anthony Nolan Stem Cell Therapy Centre is a combined blood bank and research institute that aims to store stem cells from cord blood for use in transplants as well as carry out pioneering research into new therapies. It is part of the Cord Blood Programme run by the Anthony Nolan Trust. Currently, cord blood stem cells have been used successful in renewing bone marrow and regenerating the immune systems of those with life-threatening illnesses including leukaemia, sickle-cell diseases, and immune deficiencies and it is hoped that research into cord blood transplantation will help many other diseases.
The centre aims to bank 50,000 units of blood by 2013 of which 20,000 will be suitable for transplantation and 30,000 for research. At present donations are being taken from babies born at London’s Kings College hospital and the Trust hopes that it will be able to collect donations from more hospitals in the future. Various commercial companies also operate cord blood banks and there have been concerns that this may divert efforts away from public sector banks such as the NHS Cord Blood Bank (see previous news). The impact of this new public venture on the NHS Cord Blood bank is unclear, however, the Trust says that the complex will “help provide a lifeline for thousands complementing the 12 years' experience of the NHS Cord Blood Bank; and reinforce the UK's role as a research centre of excellence” (see press release).
12 September 2008
The US National Academies released an amended version of their guidelines for human stem cell research at the beginning of September (see press release). The guidelines were originally published in 2005 to offer a common set of ethical standards for the responsible conduct of research using human stem cells (see previous news). Following the publications of the 2005 guidelines, the Human Embryonic Stem Cell Research Advisory Committee was established in order to monitor and review them as scientific advances were made in this field. The guidelines were last updated in 2007 and the recent modifications are in order to incorporate research involving induced pluripotent stem (iPS) cells, these are stem cells produced through re-programming somatic (non-embryonic) cells (see previous news).
Previous versions of the guidelines primarily addressed research involving human embryonic (hES) stem cells. The recent version of the guidelines contains a new section providing guidance on the derivation and use of pluripotent and multipotent stem cells and gives guidance on what level of review is needed for various categories of experiments involving iPS cells. Research involving iPS raise the same ethical and policy issues to those raised by the use of hES in some instances but not others, resulting in the need for differing levels of review.
10 September 2008Preliminary results suggest that a new drug may be an effective treatment for cystic fibrosis, which affects some 70,000 people worldwide and is one of the most common single-gene disorders in the UK, with around 8000 sufferers. One in 25 Caucasians are carriers of causative mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which impair chloride transport in cells; the disease occurs in people who inherit two such mutations. Characterised by excessive production of mucus and loss of salt via sweat, CF can cause significant respiratory and gastrointestinal problems, and markedly reduces life expectancy even in developed countries; there is as yet no treatment beyond interventions to reduce the symptoms, although there are ongoing efforts to develop gene therapies to cure the disease (see previous news).
5 September 2008
Much recent work in somatic cell nuclear transfer (cloning), including applications to the UK Human Fertilisation and Embryology Authority (HFEA) to permit the production of hybrid human-animal embryos (see previous news), has been for the purposes of creating human embryonic stem cell lines for research into serious human diseases, including genetic diseases. Human embryonic stem (HES) cells are pluripotent, potentially able to give rise to almost any specialised human cell type, allowing study of the whole process of cell differentiation. Stem cells produced from embryos with genetic diseases reproduce the effects of that disease in specialised cells and tissues, and are of value in learning more about it, as well as attempting to devise treatments, whether permitting in vitro screening of potential novel drugs, or developing stem-cell therapies to correct genetic defects. However, the difficulty of creating HES cells due to a limited supply of human embryos or human oocytes (eggs) is a major barrier to research, which was a key factor in the decision of the HFEA earlier this year to permit the creation of human-animal embryos (see previous news), as well as an area of ethical debate.
A new paper in Cell reports the production of induced pluripotent stem (iPS) cells from patients and carriers of ten different serious disorders, to facilitate further medical research.Most of these diseases were Mendelian (single-gene) disorders, including Duchenne (DMD) and Becker muscular dystrophy (BMD), Huntington disease, Gaucher disease (GD) type III and adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID). In addition, cell lines were generated from individuals with the chromosomal disorder Down syndrome (trisomy 21) and the complex (multifactorial) conditions Parkinson disease and juvenile diabetes mellitus [Park I et al. (2008) Cell 134 (3) 1-10, doi:10.1016/j.cell.2008.07.041]
3 September 2008Familial hypercholesterolaemia (FH) is an inherited disorder characterised by high plasma cholesterol – specifically low density lipoprotein (LDL) – and early onset cardiovascular disease. Most cases are caused by mutations in the LDL receptor gene, which is involved in removing LDL from the blood. Other causes include mutations in the apoprotein B (ApoB) gene, which affect the binding of LDL to its receptor, and in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene, which reduces the number of LDL receptors.