Following new drafts made in 2006 and since changes discussed at the HLG meeting held on 14 September last year (see last October’s OrphaNews Europe ), the final version of the HLG’s Report on work carried out in 2006 includes conclusions based on the report by the RDTF WG to assess the added value of European Reference Networks of Centres of Reference (ENCR). The first of the report’s 3 annexes, “Options for a procedure for identification and development of European reference networks”, is based on the integration at the September meeting of this type of network as a working concept for Europe.

In item 2.3 European Reference Networks, the document describes the results of the Working Group’s deliberations on ENCR over the 2005-2006 period and assesses both work undertaken and the resulting recommendations. It also outlines future work plans and suggests that the Working Group remain in close contact with the RDTF and other leading players involved to continue their efforts in this field.

In Annex 1, Options for a procedure for identification and development of European reference networks, the report sets out the general principles of the ERN, stressing the importance of flexibility and the ability to open up to potential new centres where appropriate. The options concerning existing and new specific mechanisms for ERNs are discussed. Item 3 examines how more specialised, “Independent”, centres with a potential to create a future EU Network of Centres of reference can be identified and integrated into the ERN system. The document recommends that mapping exercises, such as the one currently being performed by the RDTF and Orphanet on RD expert centres in the 27 EU Member States, be encouraged to identify existing expert/reference centres in other ERN-related fields.

This Work Plan forms part of the Community Action programme in the field of public health (2003-2008). The programme is implemented though an annual Work Plan which sets out priorities, actions to be undertaken, as well as the allocation of resources.

Item 2.1.1.4. of the Call for Proposals chapter of this document, “Developing strategies for information exchange and responding to non-communicable health threats” includes two paragraphs dealing with rare disease issues. The first recommends the development of strategies and mechanisms for the circulation of information to people affected by RDs and the promotion of better epidemiological studies, codification, classification and definition. The second paragraph calls for support for European networks of centres of reference for RDs aims to establish guidelines for best practice on treatment and share knowledge on these diseases, together with performance evaluation.

DG SANCO has recently brought out a Discussion document giving readers the opportunity to send in their comments and thereby contribute towards a new general Health Strategy to be adopted by the EC in 2007. This document will cover a 10-year period with a mid-term review. It recognizes the importance of health as a European issue as well as the need for Community action on major health issues. Furthermore, this discussion document notes that EU action provides a valuable impetus for the creation of pan-European networks of expertise enabling the exchange of best practice in rare disease treatments as well as in e-health, nanotechnology and virtual centres of excellence. The document also provides a background as well as key information for a new Health Strategy, identifying developments in health services and health threats.

Readers are invited to send in their suggestions and comments to help set the agenda for this important health strategy by 12 February 2007, ideally using the list of Questions on page 10, to the European Commission

Of the first FP7 Calls for proposalsto be published, one of the Calls for proposals from Cooperation Theme 1 "Health" is of particular interest to the RD community:

The Cooperation Health Theme includes an area dedicated to rare diseases, which will focus over the course of FP7 on Europe-wide studies of natural history, pathophysiology and on development of preventive, diagnostic and therapeutic interventions. This sector will also include rare Mendelian phenotypes of common diseases.

Two topics are currently open in this specific area, with the submission deadline being 19 April 2007 (for details, see the Work programme: - HEALTH-2007-2.4.4-1: Natural course and pathophysiology of rare diseases (Small or medium-scale focused research projects) HEALTH-2007-2.4.4-2: Research capacity-building in the field of rare diseases (Coordination or Support action)

The work programme for the Health Theme includes other topics, not specifically dedicated to rare diseases, but which might also be of relevance to rare diseases, such as: HEALTH-2007-3.4-1: Disease networks of centres of reference (Support action; deadline 18 September 2007).

The European Commission published a call to launch a database of independent experts to assist the Commission's services with work relating to the 7th Framework Programme (FP7). Should you wish to take part in future FP7 evaluation, review and/or monitoring tasks, Orphanews Europe readers are welcome to register. For more information, visit this address:

The US National Institutes of Health (NIH) have recently launched licensing opportunities for RD technologies in the form of technologies available for commercial licensing for RDs or conditions. The listing, which currently features more than 500 technologies of this kind, including drugs, biologics and devices, is available for transfer from the NIH and the FDA to the private sector where future R&D and potential commercialisation may be carried out.

Developed by the Office of Rare Diseases (ORD), and the NIH Office of Technology Transfer (OTT), the aim of this resource is to facilitate the identification of licensing opportunities taken on by pharmaceutical companies and academic institutions and thereby improve the transfer of research advances made from bench to bedside relating to interventions which may ultimately benefit patients. Since the US definition of a rare disease is one with a prevalence of less than 200,000 (cf. one with a prevalence of 1/2,000 in the EU), there are an estimated 25-30 million people living in the USA with a rare disease.

Steve Groft, Director of ORD, believes this new mechanism will help promote public-private collaboration and has the potential to make a real difference for patients: “Because relatively few people are affected by any one rare disease, finding therapies for each poses unique challenges and requires innovative approaches”.

A dysmyelinating leukodystrophy associating a progressive cerebellous ataxia, a hypogonadotrophic hypogonadism and a hypodontia has been diagnosed in 4 unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous system) and of an endocrinal deficiency of the pituitary gland. The authors suggest naming this new entity “4H syndrome”.

This study presents a second case of 3-hydroxyisobutyryl-CoA hydrolase deficiency, an enzyme involved in valine catabolism. The 2 boys separately identified 15-years apart manifested, amongst other symptoms, late motor development, hypotonia and progressive neurodegeneration. Loupatty et al. have identified different mutations affecting the 2 HIBCH gene alleles coding 3-hydroxyisobutyryl-CoA hydrolase.

Six members of 3 families from North Pakistan present an extremely rare phenotype: none of them has ever experienced pain. The first case, a 10-year-old child, was identified following his regular “street theatre” performances which involved walking on burning embers, and placing knives through his arms. Through a positional cloning study, Cox et al. have identified different homozygous mutations of the SCN9A gene, encoding Nav1.7, an sub-unit of a voltage dependent sodium channel expressed in nociceptive neurons. This discovery looks likely to result in research into new analgesics which may selectively block this channel.

Gros-Louis et al. have identified 53 patients related to 26 Canadian families manifesting a slowly developing pure cerebellar ataxia and associated with a dysarthry. By positional cloning, different SYNE1 gene mutations have been identified. The gigantic Syne-1 protein (8800 amino acids) was up till now known for its role in the anchoring of myonuclei under neuromuscular junctions. The absence of muscular phenotype in these patients therefore indicates that SYNE1 may instead be especially important in maintaining cerebellum architecture.

The Chanarin-Dorfman syndrome is characterised by intracytoplasmic accumulation of triglycerides, ichthyosis and usually includes a mild myopathy. Mutations in the ABDH5 gene are a possible cause of this disease. Certain patients presenting the symptoms of this syndrome with the exception of ichthyosis do not have any ABDH5 anomalies, the product of which activates the lipase encoded by the PNPLA2 gene. Fischer et al., at the National Genotyping Centre at Evry in France, have sequenced this PNPLA2 gene in 3 patients thereby identifying 4 distinct mutations.

Tan et Amor describe the case of 2 brothers manifesting precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. The 2 children’s parents were in good health and unrelated, however the pregnancies were complicated by a maternal HELLP syndrome (Hemolysis, Elevated Liver enzymes and Low Patelets).

The absence of the tibia whether associated or not with split hand/foot malformation is a rare disease, with variable phenotypical expression and with a type of transmission which is still uncertain. Naveed et al. have carried out a positional cloning study in a large consanguineous family from the United Arab Emirates. Two loci have been identified: 1q42.2-43 and 6q14.1 (LOD scores of 3.2 and 3.78 for an autosomal dominant transmission with reduced penetrance).

Anomalies in the translation of mitochondrial DNA could be due to mitochrondrial or nuclear gene alterations. In this study, the authors were interested in candidate nuclear genes in 2 children suffering from neonatal lactic acidosis and progressive encephalopathy. They found mutations of the EFTu gene, encoding the mitochondrial factor elongation Tu and of the EFG1 gene encoding the G1 mitochondrial elongation factor.

Kostmann disease is a severe congenital neutropenia characterised by a recessive autosomal transmission. A German team has identified a Hax1 mutation in 3 Kurdish families. The study was thereafter extended to 3 other families in addition to the 3 patients initially described by Kostmann. Hax1 is a mitochondrial protein expressed in a curiously ubiquitous manner.

Spastic paraplegia is a heterogeneous group of neurodegenerative diseases. Families linked to the SPG8 locus have a very aggressive form of the disease. The (liaison) study carried out by Valdmanis et al. has made it possible to isolate 3 mutations in the KIAA0196 gene at the origin of this pathology. KIAA0196 encodes strumpellin which is a protein of currently unknown function, but implicated in prostate cancer.

In this study, the researchers have systematically sequenced the CFL2 gene, encoding the Cofilin-2 protein known for its role in the dynamics of the actin filaments. The analysis of 113 patients with nemaline myopathy has made it possible to identify a brother and a sister carrying a homozygote mutation.

Bardet-Biedl syndrome (recessive autosomal) is characterised by a progressive retinal degeneration, obesity, learning difficulties, polydactylia, and renal problems. A French team has just identified a new gene, BBS12, which, like BBS6 and BBS10, encodes a protein belonging to the type II chaperonin 'super' family.

The Joubert syndrome is an autosomal recessive condition characterised by a hypoplasia of the cerebellum associated with hypotonia, delayed development, respiratory problems and anomalies in the eye movements. As in Meckel-Gruber syndrome, an occipital encephalocele and a polydactylia may be observed. This resemblance has led Baala et al. to sequence the genes MKS1 and MKS3, recently isolated in the Meckel-Gruber syndrome. Mutations of MKS3 have been detected in 4 patients with the Joubert syndrome. MKS3 represents the sixth locus implicated in the Joubert syndrome.

Osteogenesis imperfecta constitutes a group of hereditary disorders responsible, in different degrees, for the fragility of the skeleton. Most frequently, gene mutations encoding type I collagen are at the origin of dominant autosomal forms of the disease. However, forms involving recessive autosomal transmission have already been described. CRTAP, a protein required for the post-translational (propyl-3-hydroxylation) modification of type I collagen, is a potential candidate. Barnes et al. have sequenced the gene encoding CRTAP and identified recessive mutations in 3 children with osteogenesis imperfecta.
Read the Pubmed abstract

Trypanosoma evansi is a flagelated parasite which habitually infects domestic mammals. However, an infection in humans has been described recently in India. The innate immunity of humans against a parasite of the same kind, trypanosoma brucei brucei, is due to the trypanolytic activity of the L-I (APOLI) Apolipoprotein. The sequencing of the gene encoding this protein in the Indian patient reveals 2 microdeletions leading to total loss of expression. The infection observed is therefore probably due to an absence of APOLI.

Two independent studies published in Nature Genetics reports on the identification of mutations in the SOS1 gene in patients affected by Noonan syndrome. These patients of short stature have a characteristic facial dysmorphia and congenital cardiac anomalies. Former studies suggest that a deregulation of the RAS-MAPK pathway may be at the origin of this disease’s development. Sequence analysis of genes whose products act before the RAS and ERK proteins has made it possible to identify different mutations of the SOS1 gene, encoding a RAS guanine exchange factor. All the mutations identified to date in the Noonan syndrome currently increase the activation of the RAS-MAPK pathway.

Hypospadias is caused by a fault in the development of the spongeous body and the urethra. The familial forms of the disease represent 10% of the cases observed. The BMP4 and BMP7 genes have an important role in the embryonic development of the urethra, whilst HOXA4 and HOXB6, over the same time, intervene in the development of the skin in numerous tissues. The sequencing of these genes in 90 Chinese patients has led to the identification of 13 nucleotide variations, 8 of which modify the protein sequence. None of these variations has been found in 380 individual control chromosomes.

Renal polycystosis frequently exists in a dominant form and in a much rarer recessive form. No treatment is currently available. The products of the genes whose mutations have been involved in these pathologies have been recently localised in primary cilia. Since the ciliary functions are involved in the regulation of the cell-cycle, American researchers have tested the roscovitine action, an inhibitor of cyclin-dependent kinases, on 2 murine polycystosis renal models. A timely treatment is sufficient for minimising renal polycystosis in mice. These results indicate that roscovitine, already used in clinical trials as an anti-cancer agent, constitutes a novel approach for the treatment of recessive renal polycystosis.

Gonadal dysgenesis is usually associated with mutations affecting the HMG domain of the SRY protein, which is the transcription factor responsible for initiating male sexual differentiation. A substitution in the N-terminal protein domain in a young girl affected by this pathology has been identified. A structural analysis suggests that this mutation disturbs the helix formation of this domain, suggesting its importance in the normal SRY function.

A new case of duplication of the locus deleted in the Williams-Beuren syndrome has been identified. The young 13-year-old girl manifests severe difficulties in language in the absence of severe intellectual deficiency. These signs are different from those of patients affected by the Williams-Beuren syndrome, in which hypersociability and growth retardment are observed. These results suggest that the language development is sensitive to a fine dosage of one or several genes carried by this chromosomal region.

Alpha-sarcoglycanopathy is a muscular disorder with a recessive transmission due to a alpha–sarcoglycan deficiency, a transmembranal protein belonging to the complex associated with dystrophin. No treatment currently exists. Researchers from the Génethon in France have built up a recombinant virus encoding human alpha–sarcoglycan under the control of a muscular promoter. Intra-arterial injection of this virus in the limbs of the murine model of this disorder has completely corrected the alterations of the contractile force and stretching. The formation of the sarcoglycan complex and the histological characteristics are also restored. These results suggest that this type of approach can be envisaged for therapeutic purposes.

Autosomal dominant spinocerebellar ataxia type I is caused by the expansion of triplet repetitions encoding glutamines in the SCA1 gene. Lam et al. have demonstrated that its product, ATAXIN-1, when in its normal or pathological form, interacts with the transcriptional repressor Capicua in the mouse’s cerebellum. A mutation of this gene which overrules the neurotoxicity of the protein carrying an expansion of the polyglutamine segment, reduces the association avec Capicua. The neuropathology due to the expansion of triplets therefore seems to depend on the natural function of ATAXIN-1 and not on a possible new function of this protein.

An American team has succeeded in isolating human cells derived from amniotic fluid showing stem cell characteristics. Undifferenciated AFS cells expand extensively and have a typical doubling time of approximately 36 hours (without extracellular matrix or their elements) and are not tumorigenic. They manifest a normal maintenance of the normal number in the length of the telomeres and karyotype. They are multipotent and can thereby be differenciated towards different embryonic germ layers: adipogenic, osteogenic, myogenic, endothelial, neuronal and hepatic lineages. If this study is confirmed, these cells could represent a new potential source of stem cells for therapy.

Metachromatic leukodystrophy is a neurological disease caused by a demyelinisation and characterised by an arysulfatase A (ASA) deficiency which provokes an accumulation of sulfatides. have transplanted glial cell precursors derived from embryonic murine stem cells and expressing human ASA in the brain of mice with a protein deficiency. After 4 weeks, the sulfatide deposits were reduced by 46,7 +/- 4,0% in close proximity to cells expressing human ASA. This in vivo data indicates that stem cells represent a potential enzyme source for this type of pathology.

A revue looking back on progress achieved over the last 3 years in gene transfer and antisense oligonucleotides has appeared in Gene Therapy. A report on the current therapy situation is also provided.

Over the last few years, the survival prognostic of newborns affected by left heart hypoplasia has increased considerably due to evolving treatment. Pediatrics provides a review of the current different therapeutic approaches and their impact on neonatal and infant survival.

A study carried out in England comparing diagnosed patients before or after the age of 2 months has established that early diagnosis improves the clinical condition of the patients (better growth and morbidity and reduced treatment).

Fabry disease is a hereditary pathology of the glycosphingolipides metabolism, with chromosome X-linked recessive transmission, due to alpha-galactosidase, a lysosomal enzyme deficiency. The study presented by Kaneski et al. indicates that a high level of myeloperoxydase in the serum increases the risk of vascular accidents.

The Li-Fraumeni syndrome is a cancer predisposition which is transmitted in an autosomal dominant manner. Mutations in the p53 gene, encoding a tumour suppressor, are the main cause of this syndrome. In this study, Dutch researchers have shown that the polymorphism of the MDM2gene whose product is a negative p53 regulator, is associated with the precocious development of tumours in patients carrying a p53 mutation.

A new method based on the association between the extension of specific gene primers of the CFTR gene and mass spectrometry makes it possible to analyse polymorphisms unambiguously, modifying the splicing of CFTR. This method which makes automation possible should facilitate the work carried out by clinicians in the diagnosis of rare forms of cystic fibrosis.

The 18p deletion is marked, amongst other things, by a variable intellectual deficiency and a characteristic facial morphology. The study of 4 patients affected by variable partial deletions of the short arm of chromosome 18 has enabled a German team to establish a phenotypical map of the clinical characteristics of this syndrome.

Angelman syndrome is a neurodevelopmental disorder caused by a failure of expression of the maternal copy of the unprinted UBE3A gene. In this article, Boyes et al. report on a new method based on a semi-quantitative amplification by PCR making it possible to detect the micro-deletions of the UBE3A gene.

The QT long syndrome is a disease with an autosomal dominant transmission characterised by ventricular arrythmia and a risk of sudden death. Female predominance has already been observed in this syndrome but was attributed to a greater risk of cardiac arrythmia in women. In this study, the segregation of mutations and parental transmission were analysed in 753 nuclear families. The transmission is not Mendelian: it can be observed that more individuals are affected (57%, p<0,001) than the theoretical proportion and more women than men were affected (55%, p=0,005).

Neurofibromatosis type I is a dominant autosomal disorder characterised by café-au-lait spots and cutaneous neurofibromas. The mutations of the NF1 gene, encoding Neurofibromin, caused the disease. No correlation between the genotype and the phenotype of the patients has been observed to date in the case of small mutations. In this study, 21 unrelated patients not affected by cutaneous or plexiform neurofibroma all carry the same deletion of 3 pairs of bases. This deletion bears the loss of methionin in a well conserved region of the protein. The functional explication of this correlation between the genotype and phenotype is not clarified.

Cerebral cavernomas are vascular malformations which may lead to various neurological problems. Three genes at the origin of this disease’s development have been identified: KRIT1, MGC4607 et PDCD10. Liquori et al. have analysed the prevalence of mutations of each of these 3 genes in a cohort of 63 patients. The mutations of KRIT1 genes, MGC4607 and PDCD10 represent respectively 40%, 38% and 6% of the anomalies detected (no mutation has been detected in 16% of cases). Notably, a deletion of 77,6 kb of the MGC4607 gene is present in 13% of patients. The existence within this gene of a region of hypermutability, rich in repeated sequences could explain this observation.

EuroGentest*, has produced a set of draft guidelines for genetic counselling(GC) on genetic testing (GT) across Europe.

The need for these guidelines was clearly identified by a survey carried out over the 2005-06 period on GC legislation, guidelines and practices applied by human genetic societies from 38 European nations. The survey concluded that no direct legislation relating to GC issues existed in most of these countries, although some professional guidelines had been produced in some of the countries without relevant legislation. Six of the countries possess neither legislation nor guidelines. Furthermore, Article 12 of the European Convention on Human Rights and Biomedicine (Council of Europe, 1997) requires appropriate genetic counselling prior to predictive genetic testing however the Convention has not yet been ratified by all Member States.

A group from EuroGentest has collected and analysed international and European guidelines and policies relating to genetic counselling, including GC legislation in EU countries. Two specialist workshops on the subject were organised between May 2005 and September 2006, whilst data was collected from a number of surveys performed. The guidelines, based on the recommendations resulting from this preparation, are currently being circulated to major networks of European experts in the field for discussion and improvement.

Orphanet will next week celebrate its 10th birthday with a 1-day conference taking place on 15 February at the French Ministry of Health (DGS) in Paris, France, co-organised by INSERM, the French National Institute for Health and the Ministry of Health.

The Conference will analyse and discuss Orphanet’s user services, as well as portray how Orphanet has adapted to user needs encountered both in France and Europe-wide, on the individual, national and international level. The programme will notably include a panel discussion, “Orphanet’s service to Europe and European citizens” featuring a representation of Orphanet’s Euro partners. John F.Ryan (Head of Unit C2 Health Information, European Commission, DG SANCO) is expected to present the European dimension. The French Health Minister, Xavier Bertrand, will bring the conference to a close with a concluding speech.

The Orphanet Reports series has updated its report on rare disease prevalence.

Read the Orphanet Report on Prevalence of rare diseases: a bibliographic survey – January 2007

EMEA has recently launched EudraPharm, a new public database on information about European medicines. This database, which aims to provide on-line information to all EU citizens on all medicines including veterinary as well as human, is a long-term European project containing information concerns medicines authorised by the EC after assessment by the European Medicines Agency. These new treatments include orphan drugs for rare conditions as well as treatments for cancer, AIDS/HIV, diabetes and neurodegenerative disorders. EMEA expects the base, which will be updated weekly, to become a reference for independent information on all medicines available to the public and is authorised both on the European and the national level. Each indexed medicine will deliver the following information: name, formulation, dosage, therapeutic area, type of administration, pharmaceutical form, domain, authorisation date, name of authorising organisation, authorisation status, authorisation title and available presentations. Currently, research can be carried out on the product name and on certain other information referred to above. New research features are anticipated, along with a future referencing data presentation possibility in the European clinical studies database, EudraCT, in addition to the future availability of the database in all EU languages.

Bristol Myers-Squibb presents the results of a phase III study, demonstrating an similar efficiency to that of Sprycel® (dasatinib) in a 100 mg single daily dose, compared to Sprycel® 70 mg in a twice-daily dose. The study also demonstrates that a modification in dosage or posology is associated with a diminution of side effects in patients. Since last June, Sprycel® has been authorised in the USA for lymphoblastic leukemia with Philadelphia chromosome in patients showing a resistance or intolerance to earlier treatments. It has also received a favourable opinion from EMEA in September for the same indication, as well as for chronic myeloid leukemia in patients who are resistant or intolerant to Glivec®.

Significant regulatory changes were proposed by the FDA last month to increase access to experimental drugs by seriously ill patients with no other treatment possibilities. They also seek to clarify the circumstances and the costs that manufacturers may charge for this type of drug. These would amend the FDA’s Investigational New Drug application (IND) regulation. Availability would be increased for individual patients, small patient groups and larger populations under a treatment plan when no satisfactory alternative therapy exists to diagnose, monitor or treat the disease or condition.

This is not the first time that the FDA has allowed different types of access to experimental therapies. Since the 1970’s, large programmes have given tens of thousands of HIV/AIDS, cancer and cardiovascular disease patients the chance to receive promising therapies before the products were approved for marketing. But a failure of the regulations at that time to describe the full range of programmes available, by which only emergency use for individual patients and widespread treatment use access for large groups of patients was recognised, meant that the FDA is now keen to ensure the necessary revisions are made.

The proposed rules aim in particular to:

At its 9-10 January 2007 session the COMP (Committee for Orphan Medicinal Products) adopted a positive opinion for 6 medicinal products with regard to the following indications for the treatment of :

- Malaria
- Glioma
- Graft-versus-Host disease
- Renal cancer
- Leber’s hereditary optic neuropathy
- For the prevention of delayed graft function after solid organ transplantation

Read the EMEA COMP Press Release for January 2007

Consult the Register of Designated Orphan Medicinal Products

Here are the orphan drug designations for December, approved by the EMEA's Committee for Orphan Medicinal Products (OMP)

The COMP adopted 6 positive opinions on OMP designation for the treatment of:

The International Herald Tribune (IHT) reports that 2006 was a disappointing year for drugs approvals in the USA where the lowest number of approvals in nearly 8 years was recorded. Medecines recommended for sales in 2006 and 2005 dropped in number from an annual average of 26 drugs recorded between 2000 and 2006. FDA data shows that the highest number of approvals made was in 1999 with the lowest figure recorded amounting to just 17 in 2002. The number of medicines recommended for sale in both 2006 and 2005 dropped from the annual average of 26 drugs recorded over the past six years. The IHT article notes that the FDA rejected several new drug marketing applications last year, including Genta's Genasense to treat patients with chronic lymphocytic leukemia.

New legislation for the protection of individuals against potential genetic discrimination in employment and health insurance provision has been introduced in the US House of Representatives . Last month saw the introduction in the House of the (H.R. 493) Genetic Information Nondiscrimination Act . The draft bill text noted that Federal law on genetic discrimination is incomplete and that State laws, which vary greatly, can create discrepancies which confuse both the medical community and the general public. It is widely hoped in the States that more homogeneity in national and basic standards brought about by federal legislation will, in turn, protect the public from discrimination and offer reassurance with regard to fears surrounding this matter. This could lead to more people taking advantage of genetic testing.

It is not the first time that legislation on this issue has been introduced to the House or indeed the Senate (cf. attempts in 2003, 2005 and 2006 whereby one of the two governmental authorities was quashed by the other). However, it is believed this 2007 draft bill may fare better given the new Democratic majority in Congress, if agreements on the text are reached. Other reasons for this optimism were increased by a recent presidential visit to the NIH, at which George Bush spoke out clearly in favour of legislation. If this support is indeed confirmed from all sides then this draft bill looks set to have a far more positive impact than its predecessors with regard to this thorny genetic issue.

The International Genetic Epidemiology Society (IGES) has established a position statement on the sharing of data on genome-wide association studies in response to a NIH Request for Information entitled “Proposed Policy for Sharing of Data Obtained in NIH-supported or -conducted Genome-Wide Association Studies (GWAS).

Now the IGES proposes to broaden the issue by extending the debate to Europe in order to assess appropriate implementation of the data-sharing guidelines for countries outside the US and thereby establish a comprehensive international framework.

The Universal Convention of Persons with Disabilities, which has been welcomed as a “landmark” treaty for social rights, was adopted on 13 December 2006 after 4 years of preparation. It will be open for signature at the UNO Headquarters in New York on 30 March 2007.

Whilst this Convention does not create any new rights as such, it aims actively to prevent discrimination by ensuring that the fundamental rights of disabled people, identical to those of all non-disabled people, are understood and guaranteed by the States parties concerned. In a message UNO Secretary General Kofi Annan declared that this Convention was the “first treaty on human rights adopted in the 21st century”, while the NGO Handicap International called it a “historic advance”. The Convention provides the estimated 650 million disabled people across the world with legal protection from exploitation and abuse whilst reinforcing their rights regarding health, freedom of movement, education, employment and participation in political life. Article 25 of the Convention notably requests the States Parties to ensure that disabled people benefit from free healthcare of the same quality as care given to non-disabled people.

This white paper by a consultant on health research ethics and policy, was prepared essentially as a request by the National Human Genome Research Institute (NHGRI) as a summary of the NHGRI Workshop co-chaired by W. Lowrance and held in Bethesda USA 3-4 October last year. The discussion document deals with the risks concommitant to the broadening of genomic research into complex population-based studies with medical sequencing project results being stored in databases in both research and non-research settings.

This white paper sets out long-awaited proposals for revision of the current Human Fertilisation and Embryology Act. It also establishes the statutory basis and chronology for a new regulatory body (the Regulatory Authority for Tissue and Embryos) which is expected to be reformed out of the existing Human Fertilisation and Embryology Authority as well as the recently formed Human Tissue Authority with a smaller body incorporating Expert Advisory Panels to provide technical assistance. Other proposed changes include bringing UK law into line with European legislation such as the recent European Tissue and Cells directives . The revised legislation is expected to be introduced initially as a Bill published for scrutiny in the Parliamentary 2007-8 session whilst the revised regulatory body should be up and running by 2009.

This policy glossary sets out an argument for a European health strategy, urging a more proactive role by Europe in global health. In this policy glossary, which aims to provide "a contribution to social dialogues on global-health issues in Europe", the co-authors believe foundations, the corporate sector, health professional groups, NGOs and other European organisations should be brought together through organisations such as the Network of European Foundations, Europe's national associations of donors, as well as national health networks and institutions with an interest in global health as a basic human right for all.

Created in 1989, the European Foundation Centre is an independent, not-for-profit philanthropic foundation based in Brussels and managed under Belgian law, bringing together independent European funders. It hosts WINGS (Worldwide Initiatives for Grantmaker Support), a global network of approximately 100 grant-maker associations and support organisations. Its 200 core members adhere to the EFC’s Principles of Good Practice, a voluntary and self-regulatory Code of Practice.