FarGen: Bioresource From the Faroe Genome Project

200th ENMC International Workshop “European Reference Networks: Recommendations and Criteria in the Neuromuscular field”, 18–20 October 2013, Naarden, the Netherlands

Haemophilia is an orphan and high-cost disease worldwide and, especially in middle-income countries as Colombia. Given its burden of disease, in 2014, a national administrative registry was created to centralize demographic, clinical and economic information regarding to haemophilia and other coagulopathies. To describe the building and implementation processes of the Colombian registry of haemophilia and other coagulopathies. The 'consensus conference' methodology was used to design the registry. It was a multisector process, which included different actors of the health system (healthcare payers and providers, government institutions, academic and scientific organizations and patients). Colombia's national registry includes 95 variables, grouped in four sections: (1) sociodemographic data, (2) clinical condition, (3) economic costs, and (4) administrative updates. According to a resolution, stated by the Ministry of Health, payers and providers of healthcare must report annually to the registry the information of new and existing patients with coagulopathies. A national registry serves as an organized and interactive system for monitoring morbidity and mortality, assessing healthcare access and its impact on disease complications, as well as associated costs to medical assistance. Furthermore, registry information can guide a rational making decision process to use economic resources efficiently. On the other hand, data about orphan diseases can encourage health research and evidence-based care to improve quality of life and reduce associated disability.

Opportunities for population-based studies of complex genetic disorders after the human genome project.

Misdiagnosis is a major problem at all levels of health care causing unnecessary pain or even death as it prevents efficient, timely, and adequate treatment. In the case of infectious diseases, for instance, identification of the wrong pathogen might lead to incorrect prescription of antibiotics. While reliable data on the full extent of misdiagnosis are elusive, some evidence of the problem's scale came from a meta‐analysis of deaths within US intensive care units (ICUs), which found that 40,500 adult patients in the USA may die each year as a result of a misdiagnosis [1]. An earlier, more comprehensive, study based on searching the MEDLINE (1950–2007) and EMBASE (1980–2007) electronic databases for articles about diagnostic error or delay in primary care also found that misdiagnosis was a significant issue, although the reasons varied with each condition [2]. Moreover, many diseases, in particular rare diseases, are hard to diagnose as physicians are often unfamiliar with the symptoms; alternatively, the symptoms might be vague or untypical, as can happen with some autoimmune disorders. Many cancers in their early stages do not even show any symptoms, which prevents timely and effective treatment. There are also complex disorders that present highly varied symptoms that can lead doctors in the wrong direction, at least at first. Not surprisingly, there is an immense interest in molecular‐level diagnostics that promise to deliver far more accurate and rapid diagnoses without relying on interpreting symptoms. While this can raise new challenges, such as poor‐quality samples or analyzing complex data sets, molecular diagnostics has made progress across a range of clinical conditions, including infectious diseases and some cancers, through identification of characteristic molecular markers. A wide variety of diseases could also be diagnosed using next‐generation sequencing (NGS), including solid cancers or rare diseases of genetic origin. NGS …

There are 7000 identified rare diseases (RD) globally, and the definition of each RD varies from country to country. RD are often chronic, progressive, and frequently life-threatening. It is estimated that almost 400 million people are living with one of the 7000 identified RD globally, taking in account their families, the actual number of people that are affected directly or indirectly with RD is very high, hence declaring RD a public health problem. In Chile, it is estimated that 1 (one) million people are living with one of the RD. As little is known about these diseases in Chile, often RD remain underdiagnosed due to lack of epidemiological and real-world evidence data. To understand Chilean epidemiological situation and to better manage this neglected public health problem, it is crucial to have the national registry of RD first to understand epidemiological & socio demographic situation then to provide the integrated approach to include RD in the national health care plan, to further strengthen framework of RD and with overall objective to be able to improve the life of patients, caregivers & their families. Using a combination of literature surveys, the author evaluated Chile’s rare disease landscape and made some recommendations to the key learnings Chile can adopt to create and implement a national registry of RD. The literature review includes the latest revision of available literature in Colombia and France; countries that have managed to develop the successful national RD registry. Keywords: Rare Diseases, National Registry Chile, Literature review, Recommendations

Rare diseases (RDs) affect less than 5 per 10,000 individuals in Europe, while in the USA a rare condition is considered to have a prevalence of fewer than 200,000 affected Americans. RDs stem as one of the most urgent and emerging health problems worldwide, creating a substantial personal, community and financial burden globally. However, available data are only declared on the basis of hearsay evidence, in the absence of strong methodological supports. Creation and implementation of international and national registries could allow the achievement of more reliable data. Disorders of sex development (DSD) are rare and heterogeneous conditions that can be isolated diseases or be part of more complex disorders. Their phenotypic appearance and timing of presentation are quite variable. A wide array of genes has been found to cause DSD, and recent years have witnessed many advances in the diagnosis of patients with DSD with the introduction of chromosomal microarrays and increased availability of gene sequencing. The focus on care and treatment has shifted from early gender assignment and corrective surgery to careful and appropriate diagnosis, proper education of patients and their families, psychological support and individualised treatment driven by a multidisciplinary team. This chapter aims to contribute to the understanding of the fundamental processes of healthcare organisation, research, on-going treatments, prevention and public health policies that regulate and are underlying RDs, including DSD.

Rare cardiovascular diseases represent a heterogeneous group of conditions that are individually uncommon but collectively significant. They include inherited cardiomyopathies, infiltrative and metabolic disorders, channelopathies, aortopathies, as well as rare vascular syndromes and some congenital heart diseases. Over the last decade, major advances in multimodality imaging, genetic testing, and targeted therapies have substantially improved diagnostic accuracy and clinical outcomes. Patient-tailored management and disease‑modifying treatments, particularly for cardiomyopathies and selected metabolic disorders, illustrate the transition towards precision medicine in the field. Despite these scientific advances, important organisational challenges remain. In Belgium, eight centres are recognised as reference hospitals for rare diseases since 2014, but high‑level expertise and advanced technologies are available in more tertiary centres and care pathways for rare cardiovascular diseases remain fragmented. The recent Plan rare disease 2026–2030 with a development of a Central Rare Disease Registry and the extension of structured rare disease event registration to all medical services represent important steps towards improved epidemiological monitoring and coordination. However, formally organising a national network dedicated to rare cardiovascular diseases is a challenge to offer uniform access to specialised care. The framework for collaboration of the reference centres with the different partners over the lines of care, the establishment and support of multidisciplinary clinics, the development of generic and personalised care pathways and national registries are key steps towards more coordinated, equitable, and efficient management of patients with rare cardiovascular diseases in Belgium.

Humbert and colleagues, in their recent article, have published results from the national registry of pulmonary arterial hypertension (PAH) in France (1). Beyond the interesting data regarding the demographics and functional characteristics of the patients enrolled in the study, allowing the comparison with the national registry from the United States, which was published in the early 1990s by D’Alonzo and coworkers (2), the proportion of the different disease subtypes (i.e., idiopathic, associated with connective tissue diseases, or related to portal hypertension) indicates a key feature of national registries in rare diseases: the data raise the possibility of better allocation of medical and research resources. One clear example of this is the prevalence of pulmonary hypertension in association with schistosomiasis in developing countries. For example, a recent study from two reference centers in Brazil (3, 4), which included schistosomiasisrelated pulmonary hypertension together with other causes of PAH, found that about 30% of the cases of PAH could be associated with schistosomiasis. This astonishing proportion, besides being a clear consequence of social conditions inmany parts of the country, should, more importantly, draw the attention of researchers and clinicians to a regional characteristic that needs to be addressed and also that needs to be considered when extrapolating diagnostic and treatment algorithms to particular populations (5, 6). This merit of Humbert and coworkers’ article could be extrapolated to many other rare or orphan diseases whose regional distribution or characteristics should be considered at the time of the implementation of health policies.

BackgroundAccording to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate epidemiological data on their status, these figures reveal the great importance of this area for the Slovenian healthcare system. Consistent monitoring in the field of rare diseases facilitates evidence-informed healthcare policies, comprehensive observation of rare disease patients, and consequently serves increasingly demanding medical and statistical needs. This paper initially explores the current situation concerning rare diseases and identifies related challenges for the planned development of a national rare disease registry in Slovenia. Based on the research findings, the paper outlines the construction of the pilot rare disease registry and conceptualizes the establishment of a rare disease ecosystem in Slovenia.MethodsThe research is based on a case study design, where focus group sessions were used as the main data collection technique. Structured discussions were conducted with 24 eminent experts affiliated with the leading institutions in the field of rare diseases in Slovenia. Analysis and interpretations of the data obtained were carried by means of conventional content analysis. A subsequent course of action for developing the pilot rare disease registry and conceptualizing the rare disease ecosystem was formulated in collaboration with the experts participating in the focus groups.ResultsThe research results indicate that the effective development of the national rare disease registry, followed by the establishment of the rare disease ecosystem in Slovenia, requires a broad approach that entails a whole series of systemic changes and considerations. Moreover, well-orchestrated and well-funded efforts to achieve this goal should involve the coordinated action of all stakeholders, including the amendment of the regulatory framework, quality design, and enactment of a general rare disease policy, as well as the alignment of medical, organizational, and technological aspects in accordance with the long-term public healthcare objectives.ConclusionsThe establishment of a rare disease ecosystem in Slovenia and probably elsewhere, including a national rare disease registry, would represent an important improvement for patients, as it could significantly contribute to more coordinated healthcare treatment and enable comprehensive monitoring of the treatment process and results. A well-organized rare disease ecosystem could bring considerable benefits to healthcare system managers by providing a useful platform for estimating the required resources, evidence-informed policymaking, technological innovation, and organizational restructuring. This research provides valuable insight into the background of the issues that many countries face in the field of rare diseases, and ultimately provides practical recommendations for the development of national rare disease registries. However, ensuring effective healthcare delivery in this intricate field is critically dependent on the harmonization of digital solutions with other systemic factors and the adaptation of the rare disease ecosystem to the patients’ needs and the specifics of the healthcare environment.

Population-based cancer registries (PBCRs) provide international standardized indicators and evaluate public health actions and cancer care. Their research potential can be significantly enhanced through linkage with secondary data sources, such as biobanks, sociodemographic or genomic data. However, legal, ethical, and technical challenges often hinder such integration. This scoping review aims at identifying data linkage opportunities between cancer registries and secondary data sources, while describing the current state of the Luxembourg’s National Cancer Registry (RNC). Ultimately, steps for linkages between cancer registries and biobanks and/or sociodemographic data are assessed to enhance cancer research and public health initiatives. A scoping review using PubMed and Embase databases was performed. English guidelines, reports, and qualitative and quantitative studies on hospital-based cancer registries, PBCRs, and site-specific registries were included. One thousand three hundred and twelve articles (n = 1312) were identified. After scanning titles and abstracts, 49 articles were examined for full-text reading, where fifteen articles met the inclusion criteria. Moreover, 13 articles were included following the snowball search approach (n = 28). Included articles report significant differences between countries in all avenues, including data availability and harmonization, confidentiality, access to data, exchange, and linkage methods. Results underline that PBCR’s potential, efficiency, and cost-effectiveness are maximized thanks to linkage activities with secondary data sources such as biobanks or sociodemographic databases. In addition, the results of this scoping review enable the identification of key questions to address before establishing data linkage grouped into five domains being: (i) legal permission, (ii) data availability assessment, (iii) data flow protocol, (iv) linkage key and (v) linkage method. In conclusion, addressing the five key domains identified in this review will support the development of robust, efficient, and ethically sound data linkage strategies, unlocking the full research potential of PBCRs and to aid decision making.

On January 20, the President of the Republic of Congo fulfilled a promise made more than a decade ago by officially expanding the Nouabalé-Ndoki National Park to include a unique ecosystem known as the Goualougo Triangle. “With the stroke of a pen, President Denis Sassou-Nguesso made a significant and lasting step toward the conservation and protection of biodiversity in his country by granting protected status to the Goualougo Triangle, a key conservation area and stronghold of great ape research in the Congo Basin”, says Crickette Sanz – who, along with David Morgan, heads the Goualougo Triangle Ape Project (Nouabalé-Ndoki National Park, Republic of Congo). Home to a diverse ape population first discovered in 1989 by Wildlife Conservation Society (WCS) scientists, the Goualougo Triangle is a dense, lowland forest that – according to WCS – is a pristine area teeming with gorillas and forest elephants, as well as “naïve” chimpanzees, so-called because of their lack of contact with humans. “In spite of some selective logging, the area remains one of the most important, intact, and spectacular forests and wildlife habitats in Africa”, says James Deutsch, WCS Executive Director for Africa Programs (New York, NY). “Within Ndoki, this is really the fragile Eden.” Goualougo chimpanzees are unafraid of humans. The recent move expands the Nouabalé-Ndoki National Park by more than 8%, from 1492 to 1636 square miles (386 426 to 423 722 ha). “To put this in perspective”, explains Morgan, “the [newly protected] area (144 square miles [37 295 ha]) is more than seven times larger than the Gombe Stream National Park in Tanzania (20 square miles [5179 ha]), where scientists have studied chimpanzees for the past 50 years. This provides one of the last opportunities to study wild chimpanzees in a vast, intact landscape.” WCS partners with researchers and the Congolese Government to deploy ecoguards and educate local communities. The local timber company Congolaise Industrielle du Bois also cooperated by surrendering its legal right to harvest timber from the area. Deutsch concludes, “We all need to recognize that – when the government and a logging company agree not to exploit a place like Goualougo, and when local communities agree not to hunt there but instead to protect the wildlife – a real sacrifice is being made for the sake of biodiversity, a common good that benefits all of us on Earth. We, the global community, need to repay this debt, and at the very least provide the resources necessary to manage and protect this jewel.” Every year, millions of shorebirds flock to the world's river deltas and tidal mudflats to gobble up worms, clams, crustaceans, and insects. However, previous research on intertidal food webs has suggested that such prey do not represent the complete diet of shorebirds; now, a new study shows that the mud itself contains a critical nutritional link – biofilm – on which shorebirds depend (Ecol Lett 2012; doi:10.1111/j.1461-0248.2012.01744.x). As bacteria and diatoms settle out of seawater in intertidal zones, they secrete mucus that binds them to mud, creating a layer of paper-thin biofilm. Robert Elner, an Emeritus Scientist with Environment Canada (Vancouver), discovered previously that migrating western sandpipers feed on biofilm at Roberts Banks, south of Vancouver, in an area devoid of invertebrate prey. In the current study, Elner and his colleagues examined the feeding habits of three widely distributed species – western sandpipers, dunlins, and red-necked stints – at six intertidal sites in Japan and Canada. Using high-speed video cameras, the team observed the birds scraping biofilm off of the mud using their tongues, which are covered in fine hairs. Analysis of the birds' droppings revealed that energy-rich biofilm made up a large part of their nutritional intake. To determine the prevalence of this behavior among shorebirds, the team microscopically examined the mouth-parts of 30 different species, finding that nearly three-quarters had feeding apparatus that resemble those of the sandpipers. “It's not just western sandpipers, it's all small shorebirds worldwide that are doing this”, explains Elner. The importance of biofilm in a shorebird's diet depends on availability, environmental conditions, and the bird's body size; small shorebirds may at times feed exclusively on biofilm – which overall may account for more than two-thirds of their diet, according to the researchers – while larger birds probably ingest smaller amounts but also feed on invertebrates that consume it. The connection between shore-birds and biofilm reveals a long-sought missing link in intertidal food webs – one that raises serious conservation concerns. Development projects, such as the construction of port facilities, decimate biofilm-rich habitat and thus may have detrimental impacts on shore-birds. “Worldwide declines in shore-bird populations raise an alarm for far-reaching effects on the stability of whole ecosystems”, the researchers warn. In the midst of skyrocketing automobile ownership in China, a new study assesses the environmental and health risks and finds that, surprisingly, electric cars (e-cars) recharged by energy derived from coal-fired power plants contribute higher levels of fine particulate matter (PM2.5, emissions <2.5 microns in diameter) pollution than do conventional vehicles (CVs; gasoline and diesel cars and buses; Environ Sci Technol 2012; doi:10.1021/es202347q). In the past decade, the popularity of electric vehicles (EVs; both e-cars and electric bikes [e-bikes]) in China has risen sharply, paralleling rising personal income levels. While other studies focus on greenhouse-gas emissions, this research seeks to fill a knowledge gap by examining primary PM2.5 pollution, which presents a threat to human health due to the particles' small size. As Christopher Cherry, a professor of Civil and Environmental Engineering at the University of Tennessee (Knoxville), reports, “E-cars use a lot of energy, and in many regions of China, [energy comes from] the unregulated, lower-quality coal power plants. On average, e-cars emit ~19 times more primary PM2.5 per kilometer than gasoline cars”. Pollution from e-cars comes predominantly from coal-fired power plant emissions, whereas CV-based pollution originates primarily from tailpipe emissions. This presents a spatial discrepancy, where CV emissions are typically closer to urban centers than e-car emissions. According to Cherry, this “distance advantage” of e-car emissions reduces the health impacts of e-cars in urban areas, although the overall impacts are still higher than those of CVs. The location of EV emissions away from urban centers may result in a general decline in health impacts because they reach fewer people; however, health risks may be transferred to rural, low-income populations that do not benefit from urban EVs, adding to the complexity of the problem. Among all vehicle types tested, e-bikes showed the lowest associated environmental and health risks. As China and other industrializing nations increase regulation of power plants, the emissions trends are likely to shift. Explains Cherry, “In the longer term, the power sector will clean up and [EVs] will be cleaner, which is a huge advantage over [CVs] – in other words, clean up one power plant instead of thousands of cars”. A new deep-sea internet cable stretching from Australia to Los Angeles will be embedded with seismographs and other sensors, in order to fill enormous gaps in the knowledge of this remote part of the Earth. “Most seismographs are on land, even though most of the planet is covered by ocean”, points out geophysicist John Orcutt of the Scripps Institution of Oceanography (La Jolla, CA). Ports on the 13 000-km cable will also accommodate climate instruments to assess ocean warming as well as hydrophones to capture sounds from whales and other marine mammals. This is the first such partnership between ocean researchers and a commercial telecommunications company (TE SubCom; Morristown, NJ). “They came to us, which was a bit of a surprise. Companies have always been reluctant to outfit commercial cables with scientific instruments because of service disruptions”, Orcutt explains. The team, which includes researchers at the National Oceanic and Atmospheric Administration's Pacific Marine Environmental Laboratory (Seattle, WA), will minimize this risk by separating the cable's commercial and scientific components. Testing of a prototype is expected to be underway within a year. Timely seismic data will help more people survive tsunamis. One advantage of the fiber-optic cable is that it will power the sensors. “Right now we rely on batteries, which limits the instruments you can use”, notes Orcutt. Another benefit is that the cable will transmit information in seconds. Near-real-time seismic data are key to tracking the size and direction of tsunamis in the Pacific Ocean, which will help provide earlier and more accurate coastal alerts. In contrast, current seafloor seismographs do not transmit the data they collect. “We bring them up after about a year, which is not timely for warnings”, observes Orcutt, who chaired a 2011 National Research Council report concluding that the US is ill-prepared for tsunamis. The seismic sensors will also yield a better understanding of the inner workings of the planet, from the crust to the core. Says Orcutt, “Data from the Earth's movements give us something like a CAT scan. We can see tectonic plates that dove under each other millions of years ago, which lets us track the Earth's evolution”. Data from the cable will be open access and thus available to researchers worldwide, and TE Sub-Com ultimately plans to install sensor-embedded cables across all of the world's major oceans. “This will mean a huge leap in the quantity and quality of deep-sea data, which will improve our images of the Earth”, Orcutt concludes. New research that compares ancient and modern DNA sequences suggests that king penguins (Aptenodytes patagonicus) on Macquarie Island in the sub-Antarctic have regained their past levels of genetic variation after intense human exploitation in the 19th and early 20th centuries. “These penguins recovered their genetic diversity surprisingly quickly”, explains researcher Tim Heupink (Griffith University, Nathan, Australia). This quick recovery, he suggests, “may be because the major threat the penguins faced – human exploitation – was completely removed”. When Macquarie Island was discovered in 1810, hundreds of thousands of king penguins were living there, in two large colonies. By 1894, one colony was gone and the other had been reduced to about 3400 birds. “Early human settlers boiled the birds to death”, explains Heupink, “chucking thousands of them into steam digesters to extract their blubber oil”. They may look the same, but these king penguins are genetically diverse. Blubber extraction on Macquarie Island ended in 1920, the island was declared a wildlife sanctuary in 1933, and penguin numbers are now back to pre-exploitation levels. But what about genetic diversity? Heupink and his colleagues sequenced part of the mitochondrial hypervariable region of 18 ancient DNA samples extracted from 1000-year-old king penguin bones excavated on the island and 17 DNA samples from modern carcasses. The ancient and modern populations, the researchers report, are closely related and show a similar degree of genetic variance (Biol Lett 2012; doi:10.1098/rsbl.2012.0053). “This study shows how genetic methods that rely on ancient DNA can be used to give us a glimpse into the recent past”, comments Craig Millar (University of Auckland, New Zealand), who studies molecular ecology and evolution. “The speed of recovery of pre-exploitation levels of genetic variation is likely due to the penguin population only being in a ‘population bottleneck’ for a short time”, he adds. Indeed, suggests Mark Hauber (City University of New York, NY), who studies the evolution of bird behavior, “the population bottleneck may actually have been so short that the penguins never really lost their genetic diversity”. Importantly, all three researchers conclude, these results indicate that – if managed correctly – even populations close to extinction can quickly recover both their numbers and levels of genetic diversity. On March 1, the European Commission's Joint Research Centre (JRC) released an extensive report, Renewable Energies in Africa, that details how African countries use renewable energy, and how this could be expanded sustainably in the future. “Our maps show not only the current infrastructure of the electricity grid across the continent, but also the individual contributions and potential of biomass, wind, solar, and hydroelectric power”, explains Fabio Monforti-Ferrario, editor of the report and Action Leader of Renewable Energy Mapping and Monitoring at the JRC (Ispra, Italy). Africa still currently has a predominantly rural population, with close to 60% of people living outside urban networks. Around 600 million people – approximately 58% of the continent's entire population – have no access to electricity; of the rural population in sub-Saharan Africa, nearly 99% lack electricity. “Africa definitely has the potential to expand its use of renewable energy, and our data suggest how renewable resources and technology can be deployed to meet the long-standing demand for rural access to energy generally, and electricity particularly”, continues Monforti-Ferrario. He stresses, however, that if renewable energy exploitation is going to be effective, the technology must be developed from within Africa itself. “A key vehicle for knowledge transfer will be the Africa–EU [European Union] Strategic Partnership on Energy, which was set up at the 2007 EU–Africa Summit in Lisbon [Portugal]”, he continues. Monforti-Ferrario believes that different types of renewable energy will play different roles in Northern Africa and in the sub-Saharan regions, pointing out that “in Northern Africa, renewable energies have to compete with cheap and often heavily subsidized fossil fuels within the context of a mature infrastructure”. The lack of a grid infrastructure in rural areas is a problem; the grid in outlying areas is usually overloaded and unreliable, characterized by frequent power outages. “In these areas, it is unlikely that future investment could ever achieve expansion of the grid to a national level”, says Monforti-Ferrario. The main challenges in sub-Saharan areas involve making current methods more sustainable and reversing the net loss in wood resources that is already apparent because of the increased demand for wood fuel and charcoal. “Solar power will also be important. In many rural areas, establishing a stand-alone photovoltaic solar generator has been estimated to be more convenient than the current ‘typical’ solution of putting one or more diesel generators in the village”, he adds. To meet current US biofuel targets using current technology, about 80% of existing US cropland would have to be used to grow corn or other crops for ethanol production, according to a recent study (Environ Sci Technol 2012; doi:10.1021/es203935d). Alternatively, 60% of available rangeland could be converted to growing bio-fuel crops. In their analysis, the authors set out to determine the realistic US capacity for bioenergy production, noting that the US Energy Independence and Security Act of 2007 aims to increase domestic ethanol biofuel production from 40 billion liters in 2009 to 136 billion liters by 2022. To approximate how much biofuel the nation can actually produce, the authors estimated potential yields by analyzing fine-grained satellite and meteorological data across all vegetated land in the US and concluded that potential yields are much lower than previous estimates. For example, the potential to increase production through agricultural expansion is roughly five times lower than earlier estimates cited by the US Government and the UN when justifying biofuel policy goals. According to lead author Bill Smith (University of Montana, Missoula), potential rangeland yield was calculated at 3.4–10.6 megajoules per square meter per year – or less than one-third of previous US Department of Agriculture estimates. Therefore, to reach existing bioenergy targets, vast areas currently used for growing food crops or for grazing would have to be converted to biofuel crops – an unlikely prospect. Smith explains: “On the basis of the large amounts of rangeland or agricultural productivity that would need to be dedicated to bioenergy, we feel that the targets are unrealistic under current technology.” Smith believes that the majority of previous studies greatly overestimate potential productivity, by basing theoretical average yields on a handful of field-measured values and then extrapolating those values across large areas presumed to be homogeneous. In reality, variations in temperature and precipitation greatly reduce actual productivity. “These yield potentials are unrealistic because they do not adequately account for geographic variability of biophysical factors”, he explains. “While details such as feedstock type and energy conversion technology may change in the future, we feel it is unlikely that the bioenergy potential will exceed our reported range.” The authors also showed that converting large areas of agricultural land or rangeland to biofuel production could have far-reaching consequences, including driving up global food prices, increasing pollution due to agricultural fertilizer runoff, and intensifying demand for scarce water resources. In Australia's capital, Canberra, eastern grey kangaroos (Macropus giganteus) are a common sight, hopping down roads and grazing in parks and gardens. Yet for all its charm, it's an uneasy coexistence – with the safety of both animals and people at stake. “Canberra is the only place where large numbers of kangaroos and large numbers of people coexist, so there is unique potential for conflict in various areas”, explains ecologist Don Fletcher (Australian Capital Territory Government, Canberra). Not least is the need to protect the remnants of imperiled grassland and woodland communities in some of the city's 40 or so nature reserves; less than 1% of natural temperate grassland remains across Australia. “But these are also fantastic areas for kangaroos, with no predators now that dingoes have disappeared from settled areas”, Fletcher says. “So kangaroo numbers can become high enough to eat these grassy ecosystems to such an extent that there's little food or shelter for reptiles.” Canberra's urban kangaroos pose a management challenge. are for conservation but while show most these as with and Research is underway into with an have been the is an In the urban kangaroos have been with in a study to more about their natural behavior and to help reduce the nearly per year between cars and “With a population of only people in Canberra, that is a high by continues The finding was an of “The that were of kilometer per they at into areas, and we the in urban The if have some do they We lost a of the in our study to so cars are a than we the is the results of are to see than When are with and for example, most the and the to however, are the impacts that can have on water when fertilizer when a team of researchers from the US Department of Research that a corn and – Smith National Wildlife – was to be to they on the to in the The by Mark to study at the in by their first samples just the area was converted from corn and into of their results were in the most recent of the Research The team that the levels and in years. This was he to two the of available and the of the water where the was to be in which to the water – within one growing areas have less available “The loss in these areas more he explains. always water may however, not decline in the as the and between and per million – levels high enough to local water The higher were in and along these is key to both local and national water high can be or detrimental to wildlife and and high levels in the US are known to fuel the of the in the of (University of points out that what is most about research is the of the problem. often that and will if we to conditions, we just on good This research may help manage for water even when the they in In with the Research who were a small population of eastern in three with extensive and on their all three within of their A similar was in the area in a for protection under the US the eastern – and other species as scientists – may now be a new and a wildlife in the Department of at the University of at on the and a as the the While in by is in wild is no of where this explains is likely a and was to the or has always been there and something has the to be suggests that environmental may have the them more to habitat loss may have the of the by into closer The were reported in the 2011 of have been associated with wildlife in recent most as the of the that has populations and the that has eastern are that may be the of a similar “The is that this is or in and going due to the lack of of says who that similar have been observed in species in other of the “We could a of biodiversity even that this has

Human genetics: conceptual and practical advances in the post-genome era

Rare diseases are predominantly genetic or inherited, and patients with these conditions frequently exhibit neurological symptoms. Diagnosing and treating many rare diseases is a complex challenge, and their low prevalence complicates the performance of research, which in turn hinders the advancement of therapeutic options. One strategy to address this issue is the creation of national or international registries for rare diseases, which can help researchers monitor and investigate their natural progression. In the Republic of Korea, we established a registry across 5 centers that focuses on 3 rare diseases, all of which are characterized by gait disturbances resulting from motor system dysfunction. The registry will collect clinical information and human bioresources from patients with amyotrophic lateral sclerosis, spinocerebellar ataxia, and hereditary spastic paraplegia. These resources will be stored at ICreaT and the National Biobank of Korea. Once the registry is complete, the data will be made publicly available for further research. Through this registry, our research team is dedicated to identifying genetic variants that are specific to Korean patients, uncovering biomarkers that show a strong correlation with clinical symptoms, and leveraging this information for early diagnosis and the development of treatments.

Over recent decades tremendous progress has been made in diagnosing and treating haemophilia and, in resource-rich countries, life expectancy of people with haemophilia (PWH) is now close to that of a healthy person. However, an estimated 70% of PWH are not diagnosed or are undertreated; the majority of whom live in countries with developing health care systems. In these countries, designated registries for people with haemophilia are often limited and comprehensive information on the natural history of the disease and treatment outcomes is lacking. Taken together, this means that planning efforts for future treatment and care of affected individuals is constrained in countries where it is most needed. Establishment of standardized national registries in these countries would be a step towards obtaining reliable sociodemographic and clinical data for an entire country. A series of consensus meetings with experts from widely differing countries with different health care systems took place to discuss concerns specific to countries with developing health care systems. As a result of these discussions, recommendations are made on parameters to include when establishing and harmonizing national registries. Such recommendations should enable countries with developing health care systems to establish standardized national haemophilia registries. Although not a primary objective, the recommendations should also help standardized data collation on an international level, enabling treatment and health care trends to be monitored across groups of countries and providing data for advocacy purposes. Greater standardization of data collation should have implications for optimizing resources for haemophilia care both nationally and internationally.

National haemophilia registries are powerful instruments to support health care and research. A national registry was established in Italy by the Ministry of Health until 1999. Since 2003 the Italian Association of Haemophilia Centres (AICE) started a new programme aiming at building up the Italian Registry of Haemophilia and Allied Disorders. The AICE identified an expert panel to steer the registry. A computer software to assist patient management was developed and all the AICE-affiliated haemophilia treatment centres (HTC) were prompted to adopt it. Twice a year a predefined set of anonymized data is centralized and merged into a national database. Duplicated entries are managed through a confidentiality sparing mechanism. The database covers sociodemographic, clinical, laboratory and treatment data. A subset of data are shared with the Ministry of Health (Istituto Superiore di Sanità,ISS).Overall, data were collected six times by 43 of 49 HTC; 41 centres updated their patients' records up to December 2006. The database contains 6632 unique records, 442 of them referring to dead patients. Database growth and missing data clearance showed a constantly positive trend over time. The database has collected records of the following alive patients - haemophilia A: 1364 severe, 398 moderate and 935 mild; haemophilia B: 231 severe, 138 moderate and 204 mild; von Willebrand's disease: 1208 type 1, 346 type 2 and 96 type 3. Inhibitor patients were 296 (of which 194 high responders and 65 low responders).The Italian registry run by AICE adds to the list of the available national haemophilia registries and is intended to establish treatment guidelines and foster research projects in Italy.