8 July 2008 print
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EU rare disease Communication moves forward toward official adoption
In November 2007, the European Commission released for public consultation and comment the Communication on rare diseases, entitled Rare Diseases: Europe's Challenge. This text attracted responses from over 600 institutions, organisations and citizens and these comments were incorporated into a proposal for the Commission Communication in March 2008. This new version was used to prepare the impact assessment performed by the EC, a process which lasted three months and ended positively on the 14th of June. The European added-value of all the measures recommended in the Communication was clearly acknowledged as established by the European Commission Impact Assessment Board. The text was then shortened to conform to the standard format of all EC Communications and finally discussed with the Rare Diseases Task Force members on the 3rd of July. The new version is now in the hands of the EC services for an inter-service consultation. At the end of this exercise, the final text will be translated into all the official European languages, and then submitted for official approval by the College of the European Commission on the 5th of November. However, this will not be the end of the process as the Communication will still have to be sent to the European Parliament, to the European Economic and Social Committee, and to the Committee of the Regions before being submitted to the Council of Ministers for final adoption under the Czech Republic presidency of the European Union. Hopefully, the Council of Ministers will also adopt a set of recommendations for the Member States to reinforce the proposed policy. Although there are still several months to go, the perspective is positive for establishing measures in favour of rare disease initiatives to be adopted in all the member states.


Spotlight on...
A new trust targets Birt-Hogg-Dube syndrome
In 2007, patients with Birt-Hogg-Dube syndrome got a new guardian angel: the Myrovlytis Trust. This London-based charity was initiated and funded in late 2007 by an anonymous source. It was registered with the UK Charity Commission in December. The name of the fund is literary in nature and means “myrrh-scented”. The Myrovlytis Trust is devoted to funding research toward a cure for rare genetic disorders, starting with Birt-Hogg-Dube syndrome. Characterised by skin lesions, kidney tumours, and pulmonary cysts, Birt-Hogg-Dube syndrome is a rare clinicopathologic condition with an estimated prevalence of 1/200,000. OrphaNews Europe recently spoke with charity manager John Solly to learn more about the projects and activities of the Myrovlytis Trust. Scientific Advisory Board members Dr. Maurice van Steensel and Pr. Eamonn Maher also contributed information to this article.

OrphaNews Europe: Can you describe some of the activities and projects the Myrovlytis Trust (MT) is funding?

Myrovlytis Trust: The Trust is funding a Travel Grants scheme, through which grants are awarded (in order of priority) to researchers travelling:
1. To a scientific meeting/lecture tour/workshop/international congress to present research pertaining to Birt-Hogg-Dube syndrome.
2. To engage in international collaborative research pertaining to Birt-Hogg-Dube syndrome.
3. To a scientific meeting/lecture tour/workshop/international congress to present research pertaining to other rare genetic disorders.
4. To engage in international collaborative research pertaining to other rare genetic disorders.
Preference is given to those working on BHD syndrome, according to the priority list above. Funds are strictly limited. Supporting letters are required. Further details, and the application form, are available on our website.

OrphaNews Europe: What other activities has the Trust funded so far?

Myrovlytis Trust: 1. Basic laboratory research into BHD syndrome: cell and molecular biology, biochemistry etc.
2. A forthcoming website in collaboration with the BHD Family Alliance – an American patient group. We hope this website will be the first point of reference for anyone interested in BHD syndrome – families, researchers etc. The site should be up and running by the end of June or shortly thereafter.
3. The MT is also providing some funding for the Inaugural BHD Symposium, which will be held in Roskilde, Denmark, in September 2008. This meeting is being organised in collaboration with the BHD Family Alliance. The Scientific Organising Committee includes the European BHD Consortium and is led by Professor Eamonn Maher and Dr Laura Schmidt.

OrphaNews Europe: The Myrovlytis Trust works in collaboration with the European BHD consortium (EBC). What is their working relationship?

Myrovlytis Truste: The MT supports the work of the EBC and also runs the EBC website. An MT representative is a member of the EBC.

We see the EBC as an excellent mechanism to:
1. Promote greater collaboration within the field of BHD syndrome and greater interaction between BHD researchers;
2. Raise the profile of BHD syndrome;
3. Make lab resources (antibodies etc.) publicly available to BHD researchers.
The Consortium is very helpful for encouraging collaboration and preventing unnecessary duplication of effort.

OrphaNews Europe: Can you briefly describe the advances made in Birt-Hogg-Dube syndrome research in terms of gene identification, diagnostics, et cetera? Are there any treatments presently in the pipeline?

Myrovlytis Trust: Current understanding is that BHD syndrome is monogenic and autosomal dominant. The gene (Folliculin) has been mapped and sequenced (Khoo et al., 2001; Schmidt et al., 2001; Nickerson et al, 2002). The syndrome was first described more than thirty years ago by three Canadian doctors (Birt, Hogg and Dube, 1977). Diagnosis was originally determined by histological analysis of the skin lesions, but is now typically by Folliculin sequencing.

The skin lesions can be treated by laser ablation, but any improvement is only temporary. The renal cell carcinoma (RCC) is typically managed by monitoring tumour size, partial nephrectomy when they reach a certain size and, if necessary, total nephrectomy. Typically, individuals with RCC have multifocal and bilateral tumours. We hope that the upcoming BHD Symposium will provide an opportunity to develop EU treatment guidelines for BHD syndrome.

Recent work in the USA at the National Institutes of Health (Baba et al., 2008) on a mouse model of BHD syndrome with polycystic kidneys showed that rapamycin has a positive effect on abnormal kidney growth. Although there are important differences between this mouse model and the human condition, these experiments are certainly suggestive.

Read the full interview


National & International Policy Developments
Brazil to permit embryonic stem cell research…and approves a rare disease drug
A recent news release announces that Brazil has voted by a narrow margin to permit research using embryonic stem cells. The decision was deadlocked for almost three years. Six of the country’s eleven Supreme Court justices voted in favour of the research that could permit novel treatments for a variety of ailments – including many rare diseases. In other news, Brazil’s regulatory agency has approved idursulfase (Elaprase) for the treatment of Hunter disease. Produced by Shire Human Genetic Therapies, the molecule is already approved in some forty countries around the world.
Other European news
Early frequent height screening important for diagnosing several rare conditions in children
Researchers from the University of Reading in the UK have found that height screening programmes are crucial for identifying abnormal growth problems – including rare diseases such as Turner, Marfan or Klinefelter syndromes. A study seeking to determine the cost-effectiveness of height screening challenges the policy decision that downgraded child growth screening practices in the UK a decade ago. Diagnosis at a later age reduces the chance of a successful outcome; thus the study recommends earlier, more frequent height screening. Learn more about the height screening study
UK patient group funds clinical and management guidelines project for Williams syndrome
Manchester, UK-based genetics knowledge park Nowgen’s European Project Office has received funding from the UK Williams Syndrome Foundation to develop international clinical guidelines and care tools to support the health care of Williams Syndrome patients. Williams Syndrome is a rare genetic condition characterised by a developmental disorder associating a cardiac malformation, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile. It affects approximately 1 in 25,000 individuals. The Foundation is run by families of Williams Syndrome patients, raising funds for research, and to improve the welfare of those with the condition. This initiative will begin by updating the American Academy of Pediatrics’ recommendations for Williams Syndrome follow up care, which were published in 2001. In order to make these changes, a thorough search of research published since the AAP guidelines will be undertaken, and a national meeting for UK experts in Williams Syndrome will be held. The aim is to establish an expert consensus that will inform the recommendations for the clinical management guidelines. This consensus will also feed into the development of further care tools, including diagnostic and review checklists for physicians, emergency care information and guidelines, and a Personal Health Record (PHR). For further information, please contact Pam Griffiths.
Other International News
Novel stem cell therapy approach offers hope to patients with dystrophic epidermolysis bullosa
University of Minnesota doctors are reporting a promising outcome eight months after a novel stem cell transplantation involving umbilical cord blood and bone marrow cells on a paediatric patient with recessive dystrophic epidermolysis bullosa (RDEB). This rare genetic disease causes the skin and lining of the digestive tract to slough off, leading eventually to an aggressive, fatal skin cancer in young adulthood. This is the first reported case of a systemic approach to treating this illness. The patient, now 25 months old, has shown steady improvement since the intervention: skin and intestinal tract lining have both slowly improved, and skin biopsies performed on days 60, 130, and 200 showed more and more collagen type VII. The doctors are planning on enrolling additional patients in the clinical trial. Read the University of Minnesota press release
Sweeping new study presents paediatric cancer demographics in the US
A study appearing in the June issue of Pediatrics reveals a host of statistics concerning childhood cancers, all of which are rare diseases. The report finds that boys have a higher level of malignant cancers than do girls. Adolescents have a higher incidence of cancer than younger children. The study identified over 35,000 cases in a three year period, or some 166 cases per million. Leukaemia was the most common, affecting over 26% of all cancer paediatric patients. Central nervous system cancers had the second highest incidence, followed by lymphomas. Racially, whites had the highest incidence. The research, culled from registries encompassing 90% of the US population, was conducted by specialists from the US Centers for Disease Control and Prevention. The conclusions of this study could be useful to prioritising future childhood cancer research needs. Read the PubMed abstract

Orphanet News
New Texts
New Orphanet Journal of Rare Diseases Publications

Hereditary alpha-1-antitrypsin deficiency and its clinical consequences


Congenital long QT syndrome


New Genes
CDG syndrome patients may have RFT1 gene mutations
CDG syndrome (Congenital Disorders of Glycosylation) includes a group of autosomal recessive disorders affecting glycoprotein synthesis and characterised by neurological manifestations that can be associated with multivisceral involvement. In a patient with a form of the illness characterised by height/weight growth delay, psychomotor delay, hypotonia and coagulation anomaly, the authors identified a homozygous mutation in the gene RFT1, encoding a protein implicated in N-glycosylation in yeast, suggesting the conservation of the protein function in humans.
Read the PubMed abstract

Am J Hum Gen ; 600-606 ; March 2008
Myopathy with exercise intolerance: a mutation in the gene encoding iron-sulfur cluster scaffold protein
A myopathy with severe exercise intolerance and myoglobinuria has been described in 14 patients from northern Sweden, with associated deficiencies of succinate dehydrogenase and aconitase in skeletal muscle. The authors identified the gene for the iron-sulfur cluster scaffold protein ISCU as a candidate within a region of shared homozygosity among patients with this disease.
Read the PubMed abstract

Am J Hum Gen ; 652-660 ; March 2008
Juvenile and adult diabetes: insulin gene mutations are less common than in neonatal forms
Three studies published in the journal Diabetes describe the identification of mutations in the insulin gene in patients with juvenile or adult diabetes without autoantibodies. In the permanent neonatal form of the disease, mutations in this gene account for 10%-12% of cases. In later onset forms, the three studies suggest a much more rare presence of mutations in this gene.
Read the PubMed abstract
Read the PubMed abstract
Read the PubMed abstract

Diabetes ; April 2008
Berardinelli-Seip congenital lipodystrophy: association of a homozygous nonsense caveolin-1 mutation
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterised by near absence of adipose tissue, resulting in severe dyslipidemia and insulin resistance. In most reported cases, BSCL is due to alterations in either seipin, of unknown function, or 1-acylglycerol-3-phosphate acyltransferase-beta (AGPAT2), which catalyses the formation of phosphatidic acid. The authors of this study sought to determine the genetic origin of the unexplained cases of BSCL by sequencing CAV1, encoding caveolin-1, as a candidate gene involved in insulin signaling and lipid homeostasis. CAV1 is a key structural component of plasma membrane caveolae, and Cav1-deficient mice display progressive loss of adipose tissue and insulin resistance. A homozygous nonsense mutation (p.Glu38X) was identified in CAV1 in a patient with BSCL born from a consanguineous union. These findings identify CAV1 as a new BSCL-related gene.
Read the PubMed abstract

J Clin Endocrinol Metab ; 1129-1134 ; April 2008

Research in Action
Clinical Research
Smith-Lemli-Opitz syndrome: a detailed description of moderate forms
Smith-Lemli-Opitz syndrome is an autosomal recessive disorder characterised by facial dysmorphism, cerebral anomalies and delays in stature. The authors describe five patients with mild phenotype and analyze 18 other cases from the literature, providing a refined description of the phenotype of these rare forms that can be difficult to diagnose.
Read the PubMed abstract

Euro J Hum Gen ; 124-140 ; March 2008
Polycythemia vera myelofibrosis: a dynamic prognostic model to predict survival
Polycythemia vera is a myeloproliferative syndrome that can eventually lead to myelofibrosis. In a series of 68 patients who developed polycythemia vera myelofibrosis, the authors found that that a dynamic score based on haemoglobin level less than 100 g/L (10 g/dL), platelet count less than 100x10(9)/L, and leukocyte count more than 30x10(9)/L is useful to predict survival at any time from diagnosis.
Read the PubMed abstract

Blood ; 3383-3387 ; April 2008
Kleine-Levin syndrome: clinical description, predisposition factors and treatment strategies
Kleine-Levin syndrome is a rare disorder characterised by relapsing-remitting episodes of hypersomnia, cognitive disturbances, and behavioural disturbances, such as hyperphagia and hypersexuality. The authors collected detailed clinical data and blood samples on 108 patients, 79 parent pairs, and 108 matched control subjects. Novel predisposing factors were identified including increased birth and developmental problems. Jewish heritage was overrepresented, and five multiplex families were identified. The similarity of the clinical and demographic features across studies strongly suggests that Kleine-Levin syndrome is a genuine disease entity. Familial clustering and increased prevalence in the Jewish population support a role for a major genetic susceptibility factor. Considering the inefficacy of available treatments, the authors propose that disease management should primarily be supportive and educational.
Read the PubMed abstract

Ann Neurol ; 482-493 ; April 2008
Atypical hypotonia-cystinuria syndrome: deletion of C2orf34, PREPL and SLC3A1 at cause
Hypotonia-cystinuria syndrome (HCS) and 2p21 deletion syndrome are two recessive contiguous gene deletion syndromes associated with cystinuria type I. The deletions differ in size and the number of genes involved. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost. The authors report the first patients with a deletion of SLC3A1, PREPL and C2orf34. They present with a phenotype intermediate between HCS and 2p21 deletion syndrome. These patients facilitate the elucidation of the contribution of each gene to the phenotype in the different 2p21 deletion syndromes.
Read the PubMed abstract

J Med Gen ; 314-318 ; May 2008
Therapeutic Approaches
Cystic fibrosis: Ceramide accumulation mediates inflammation, cell death and infection susceptibility
Microbial lung infections are the major cause of morbidity and mortality in the hereditary metabolic disorder cystic fibrosis, yet the molecular mechanisms leading from the mutation of cystic fibrosis transmembrane conductance regulator (CFTR) to lung infection are still unclear. Here, the authors show that ceramide age-dependently accumulates in the respiratory tract of uninfected Cftr-deficient mice owing to an alkalinisation of intracellular vesicles in Cftr-deficient cells. The accumulation of ceramide causes Cftr-deficient mice to suffer from constitutive age-dependent pulmonary inflammation, death of respiratory epithelial cells, deposits of DNA in bronchi and high susceptibility to severe Pseudomonas aeruginosa infections. Partial genetic deficiency of Asm in Cftr(-/-)Smpd1(+/-) mice or pharmacological treatment of Cftr-deficient mice with the Asm blocker amitriptyline normalises pulmonary ceramide and prevents all pathological findings, including susceptibility to infection. These data suggest inhibition of Asm as a new treatment strategy for cystic fibrosis.
Read the PubMed abstract

Nature Medicine ; 382-391 ; April 2008
Diagnostic Approaches
Neuroblastoma: a retrospective population-based cohort study of screening in Japan
In Japan, a nationwide programme between 1984 and 2003 screened all infants for neuroblastoma. However, the Japanese government stopped the mass-screening programme in 2003, after reports that it did not reduce mortality due to neuroblastoma. The authors aimed to assess the effectiveness of the screening programme via a retrospective population-based cohort study. They found that more infantile neuroblastomas were recorded in children who were screened for neuroblastoma at 6 months of age than in those who were not. Any new screening programme should aim to decrease mortality, but also to minimise overdiagnosis of tumours with favourable prognoses.
Read the PubMed abstract

The Lancet ; 1173-1180 ; April 2008
Li-Fraumeni syndrome: PET-Scans permit early detection of some cancers
Individuals with Li-Fraumeni syndrome have an inherited cancer predisposition to a diverse array of malignancies beginning early in life. The underlying genetic defect in the majority of the families is a germline mutation in the TP53 tumour suppressor gene. Of 15 individuals, baseline FDG-PET/CT scan identified asymptomatic cancers in 3 (20%). These preliminary data provide the first evidence for a potential cancer surveillance strategy that may be worthy of further investigation for patients with Li-Fraumeni syndrome.
Read the PubMed abstract

JAMA ; 1315-1319 ; March 2008

Patient Management and Therapy
CADASIL: Donepezil does not improve cognitive functioning
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic form of subcortical ischaemic vascular dementia.The authors conducted a multicentre, 18-week, placebo-controlled, double-blind, randomised parallel-group trial to determine whether the cholinesterase inhibitor donepezil improves cognition in 168 patients with CADASIL. After 18 weeks of treatment, donepezil showed no improvement on cognitive impairment.
Read the PubMed abstract

Lancet Neurol ; 310-318 ; April 2008
Cystic fibrosis: an exploration of attitudes and influences associated with carrier screening
Carrier screening for cystic fibrosis has been recommended for pregnant women and their partners, individuals and couples prior to conception, and for people with a family history. Many pilot programmes offering cystic fibrosis carrier screening, most commonly in the prenatal setting, have shown that uptake and acceptability are high. This article explores perspectives of the Victorian (Australia) community regarding carrier screening for cystic fibrosis prior to offering screening. In particular whether or not such carrier screening should be offered, the best time for offering carrier screening, the information required for making a decision about carrier screening, and how this information can best be provided. A qualitative approach was taken to enable exploration of the views of stakeholders. Participants were in agreement that cystic fibrosis carrier screening should be made available to everyone. However, potential consumers viewed cystic fibrosis carrier screening as 'not in my world' and were unlikely to request such screening unless it was offered by a health professional, or they had a family history. This study highlights the importance of community consultation, with stakeholders, prior to implementation of carrier screening programmes.
Read the PubMed abstract

Euro J Hum Gen ; 435-444 ; April 2008

Courses & Educational Initiatives
A unique online MSc course in haemoglobinopathies
Thalassaemia International Federation (TIF) in collaboration with University College London (UCL) is offering a unique online MSc course in Haemoglobinopathies. The first e-learning course in this field, the course offers health professionals the opportunity to pursue an advanced degree from anywhere in the world. For further information
European Advanced Postgraduate Course in Classical and Molecular Cytogenetics - 2009
The course is designed to provide medical graduates, pharmacists, researchers, graduate students and health professionals with advanced training in constitutional, haematological, and oncological cytogenetics. The students will be trained to identify genetic abnormalities using both classical and molecular cytogenetic techniques for diagnosis, prognosis, and fundamental and applied research. The course is co-organised by the European Cytogenetists Association and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. For further information

What's on Where?
3rd workshop on Molecular Targets for Cancer - turning knowledge on therapeutics, prevention and biomarkers into applications
Date: 11-12 July 2008
Venue: Bergen, Norway

This workshop will address childhood and adult rare cancers, the tumor microenvironment, poor prognosis cancers, and resistance to therapy.
For further details

Fourth International Conference on Metals and Genetics
Date: 21-24 July 2008
Venue: Paris, France

The main topics will include metal-associated diseases: molecular and systemic biology approaches; characterisation and speciation of metal in proteins and biological tissues; and metals and environmental health implications.
For further details

Barth Syndrome: On Track Toward a Cure - 4th International Conference
Date: 21-26 July 2008
Venue: Florida, USA

This conference will be dedicated to increasing knowledge and accelerating advances in research for this rare metabolic genetic disorder. It will bring together basic scientists, clinical researchers, treating physicians, other professionals, and affected individuals and families to focus on the syndrome through a series of carefully organised sessions.
For further details

International Society for Genetic Eye Diseases and Retinoblastoma Meeting 2008
Date: 28-30 August 2008
Venue: Strasbourg, France

This meeting will include novel therapies for inherited eye diseases and retinoblastoma; molecular diagnosis of inherited eye diseases and retinoblastoma; phenotype/genotype analysis; update on management issues; and interactive sessions on rare cases, with short clinical presentations.
For further details

Inaugural Birt Hogg Dube Syndrome Symposium
Date: 3 September 2008
Venue: Roskilde, Denmark

Laboratory research session in the morning and a clinical session in the afternoon. Keynote presentation and opportunity for a number of short talks in each session. There will be poster presentations. This is an opportunity for researchers and clinicians to present their work, share ideas and set up collaborations to promote BHD research and to establish screening guidelines for BHD patients.
For further details

6th International Conference on Frontotemporal Dementia
Date: 3-5 September 2008
Venue: Rotterdam, The Netherlands

Symposium highlights include: Caregivers burden; Early onset dementia AD; Genetic Counseling; Aphasic syndromes; Tau; Progranulin; TDP-43 protein; Genetics of the FTD; ALS spectrum; Animal and Cell Models; Neuropathology and biochemistry of FTD; Clinical spectrum FTD; Pharmacological treatments; and more.
For further details

19th European Meeting on Dysmorphology
Date: 4-5 September 2008
Venue: Strasbourg region, France

Sessions will focus on MCA/MR syndromes; foetal pathology; new microdeletion/duplication syndromes; dysmorphology and esophageal atresia/tracheoesophageal fistula.
For more information

First AnEUploidy Workshop
Date: 12-14 September 2008
Venue: Geneva, Switzerland

The AnEUploidy integrated project aims to contribute to the understanding of the molecular basis and pathogenic mechanisms of aneuploidies. With the aim of furthering the primary objectives of this project, this international workshop will share and discuss the newest results in this field. A limited number of junior travel fellowships will be granted.
For further details

15th Paediatric Rheumatology European Society Congress
Date: 14-17 September 2008
Venue: University College London, UK

The programme will cover four main topics through keynote lectures, abstract presentations and educational workshops: juvenile arthritis, juvenile dermatomyositis, vasculitis and pain. There will be novel symposia such as sport and exercise in young people.
For further details

2nd Congress of Ring14 International Association for Rare Neurogenetic Diseases Research
Date: 25-27 September 2008
Venue: Reggio Emilia, Italy

An interesting and varied programme for professionals, patients and their families.
For further details

13th International Meeting of the World Muscle Society
Date: 29 September-2 October 2008
Venue: Newcastle upon Tyne, UK

New Insights into the pathogenesis of facioscapulohumeral muscular dystrophy, myotonic dystrophy and other dominant muscular dystrophies, Advances in the understanding and treatment of myasthenic disorders, Therapeutic advances in neuromuscular disorders, Advances across the neuromuscular field, including treatment and management.
For further details

International Conference on Thalassaemia and Haemoglobinopathies
Date: 8-11 October 2008
Venue: Singapore

The 11th International Conference on Thalassaemia and Haemoglobinopathies and the 13th International Thalassaemia TIF Conference for Thalassaemia Patients and Parents. "Equal Access to Quality Medical Care for Every Patient with Thalassaemia" is the theme of this year's conferences.
For further details

6th World Rett Syndrome Congress
Date: 10-13 October 2008
Venue: Paris, France

Various aspects of Rett syndrome and MECP2 functioning, including fundamental, clinical and management topics.
For further details

Tenth International Meeting on Osteogenesis Imperfecta
Date: 15-18 October 2008
Venue: Ghent, Belgium

Topics include: Bone homeostasis, murine models/collagen biology/biophysics, classification, genetics: genotype-phenotype, prenatal diagnosis/preimplantation diagnosis, biphosphonates, orthopedic management, hearing loss: physiopathology, surgery and imaging, other medical management issues, stomatology/dentistry, psychosocial aspects, new (therapeutic) perspectives.
For further details

EPPOSI 9th Workshop on Partnering for Rare Diseases Therapy Development
Date: 16-17 October 2008
Venue: Paris, France

Mark your calendars for the 2008 EPPOSI workshop, taking place at the National Assembly in Paris. The theme of the workshop is Orphan drugs: partnering along the chain and across the borders - Sharing strategies and tools for access to diagnosis and treatment.
For further details

Rare Tumors in Europe: Challenges and Solutions
Date: 6 November 2008
Venue: Brussels, Belgium

Details to follow shortly.
For further information


Press & Publications
Your summer reading list

Let’s see… sunglasses, beach towel, sun cream, big floppy hat… wait a minute – where’s my reading material! Several new texts are due out relating to rare disease medicine, reasearch, diagnostics and treatment. OrphaNews Europe provides a list of some of the exciting new titles recently released, permitting you to place your order in time for summer reading:

Molecular and Cell Biology of Muscular Dystrophy (Molecular and Cell Biology of Human Diseases, No 3) by T. Parker (-ed) provides an account of the breakthroughs achieved in our understanding of the Duchenne/Becker muscular dystrophies and the consequences and ramifications of these advancements. Chapters address recent discoveries in molecular genetics, geno/phenotype, diagnostics, and treatment approaches including dystrophin gene transfer therapy and myoblast transplantation. (Springer; ISBN: 978-0412434402)

Molecular Basis of Pulmonary Disease: Insights from Rare Lung Disorders by F. McCormack, B. Trapnell, and R.J. Panos (-eds) evolves from the premise that rare lung disorder research can enhance the understanding of common pulmonary diseases and disease mechanisms such as fibrosis and emphysema. Mutations in the alveolar type II cell specific protein, SP-C, can lead to pulmonary fibrosis provides evidence that the alveolar epithelium plays a critical role in fibrogenesis, for example. Similiarly, development of premature emphysema in patients with alpha one antitrypsin deficiency provides strong support for the theory of protease/protease inhibitior balance in the pathogenesis of alveolar destruction. A second important premise is that the science in rare lung disease is inherently interesting and can often change with surprising speed. This is related in part to the fact that the genetic basis of many rare lung diseases is now available, providing a unique vantage point for framing research questions. (Humana Press; ISBN: 978-1588299635)

Pulmonary Arterial Hypertension: Diagnosis and Evidence-Based Treatment by R. Barst (-ed). This is the first book dedicated to rare disease pulmonary arterial hypertension. It includes management guidelines, evidence-based treatment algorithms, and the most current information on research and diagnostics. (Wiley; ISBN: 978-0470059722)

Commercializing Successful Biomedical Technologies: Basic Principles for the Development of Drugs, Diagnostics and Devices by Shreefal.S. Mehta. This text guides the reader through the practical aspects of the commercialization process of drug, diagnostic and device biomedical technology covering the spectrum of pharmaceuticals, biotechnologies, medical devices and diagnostics. From the early development process through marketing and sales, the author uses case examples to chart a path through the complex landscape of new product development. With a section on orphan drug development. (Cambridge University Press; ISBN: 978-0521870986)

Neuropsychological Neurology: The Neurocognitive Impairments of Neurological Disorders by A. J. Larner. This text forcuses on the cognitive aspects of neurological conditions, and includes sections on several rare disorders, including motor neurone disease, amyotrophic lateral sclerosis, systemic lupus erythematosus, Behcet disease, Steinert disease, myasthenia gravis, and the neurogenetic diseases. The book presents an outline of the various cognitive domains and how they can be tested. (Cambridge University Press; ISBN-13: 978-0521717922)

Cancer in Children and Young People (Wiley Series in Nursing) by Faith Gibson and Louise Soanes. This new edition encompasses developments in caring for paediatric cancer patients. The book is divided into six sections: Chemotherapy, Haematopoetic Stem Cell Transplantation, General Surgery, Radiotherapy, Late Effects of cancer therapies, and Palliative Care. (Wiley; ISBN-13: 978-0470058671)

Endocrine Manifestations of Systemic Autoimmune Diseases, Volume 9 (Handbook of Systemic Autoimmune Diseases) by S. Walker, L. Jara, and R. Asherson (-eds). Evaluating the role of steroids in autoimmune rheumatic diseases from the basic mechanisms to the clinical involvements, chapters also address pathophysiology, novel therapeutic approaches and clinical aspects of diverse conditions including Turner syndrome, Klinefelter syndrome, SLE and others. (Elsevier Science; ISBN: 978-0444531728)

Molecular Epidemiology of Chronic Diseases by Chris Wild, Paolo Vineis, and Seymour Garte. This book provides an easy-to-use, clearly presented handbook that allows epidemiologists to understand the specifics of research involving biomarkers, and laboratory scientists to understand the main issues of epidemiological study design and analysis. It also provides a useful tool for courses on molecular epidemiology, using many examples from population studies to illustrate key concepts and principles. (Wiley; ISBN: 978-0470027431)

Nord Compendium of Rare Diseases and Disorders. A compendium of comprehensive information on the diagnosis and management of over 1,000 rare diseases and disorders. Revised and expanded, this text includes information on signs, symptoms, etiology, support groups, researchers, and treatments. (Mary Ann Liebert; ISBN: 978-0913113417)

My Child Has Cancer: A Parent’s Guide to Diagnosis, Treatment, and Survival by Della L. Howell. Written by a specialist in paediatric oncology, this guide offers comprehensive information about the 12 types of childhood cancer. This book explains how cancers affect children differently than they do adults, as well as what little is known about the causes, and details the controversies on that subject. Howell explains common procedures and tests before, during, and after therapy, as well as the potential side effects. The author also addresses the issue of emotion--how to find the calm and strength to help the child or teen and be his or her best advocate, how to tell the child the diagnosis, what questions to anticipate, and how to deal with other family members and friends. (Praeger Publishers; ISBN: 978-0275996017)

Hope and Suffering: Children, Cancer and the Paradox of Experimental Medicine by Gretchen Krueger. This narrative explores how doctors, families, and the public interpreted the experience of childhood cancer from the 1930s through the 1970s. Pairing the transformation of childhood cancer from killer to curable disease with the personal experiences of young patients and their families, Krueger illuminates the twin realities of hope and suffering. In this social history, each decade follows a family whose experience touches on key themes: possible causes, means and timing of detection, the search for curative treatment, the merit of alternative treatments, the decisions to pursue or halt therapy, the side effects of treatment, death and dying -- and cure. Recounting the complex and sometimes contentious interactions among the families of children with cancer, medical researchers, physicians, advocacy organizations, the media, and policy makers, Krueger reveals that personal odyssey and clinical challenge are the simultaneous realities of childhood cancer. Of interest to historians, medical practitioners and researchers, and people whose lives have been altered by cancer. (Johns Hopkins University Press; ISBN-13: 978-0801888311)


Orphanews Europe, the newsletter of the Rare Diseases Task Force
Orphanews Europe is supported by the European Commission's DG SANCO
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Lucile Abdennaji, Catherine Berens, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Manuel Posada de la Paz, Ewa Pronicka, Claire Scharf-Kroener, Armelle Regnault, Janos Sandor, Domenica Taruscio, Paloma Tejada, T.O.F. Wagner
For more information on the Rare Diseases Task Force
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