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Science gateways are a crucial component of critical infrastructure as they provide the means for users to focus on their topics and methods instead of the technical details of the infrastructure. They are defined as end-to-end solutions for accessing data, software, computing services, sensors, and equipment specific to the needs of a science or engineering discipline and their goal is to hide the complexity of the underlying infrastructure. Science gateways are often called Virtual Research Environments in Europe and Virtual Labs in Australasia; we consider these two terms to be synonymous with science gateways. Over the past decade, artificial intelligence (AI) and machine learning (ML) have found applications in many different fields in private industry, and private industry has reaped the benefits. Likewise, in the academic realm, large-scale data science applications have also learned to apply public high-performance computing resources to make use of this technology. However, academic and research science gateways have yet to fully adopt the tools of AI. There is an opportunity in the gateways space, both to increase the visibility and accessibility to AI/ML applications and to enable researchers and developers to advance the field of science gateway cyberinfrastructure itself. Harnessing AI/ML is recognized as a high priority by the science gateway community. It is, therefore, critical for the next generation of science gateways to adapt to support the AI/ML that is already transforming many scientific fields. The goal is to increase collaborations between the two fields and to ensure that gateway services are used and are valuable to the AI/ML community. This chapter presents state-of-the-art examples and areas of opportunity for the science gateways community to pursue in relation to AI/ML and some vision of where these new capabilities might impact science gateways and support scientific research.

The Public Health Agency of Canada Innovation Strategy (PHAC-IS) funded the development and delivery of interventions that addressed priority population health issues over a 10-year period between 2009 and 2020. The design of the PHAC-IS funding program integrated the intentional effort of scale-up to increase the reach and impact of proven population health promotion interventions towards long-term, sustained impact benefit at individual, community, and systems levels.Recognizing that social innovation and adaptive cycles are necessary for effective scale-up, the PHAC-IS developed and applied a Scale-up Readiness Assessment Tool (SRAT) to assess the level of scale-up readiness of a funded project.Development of the SRAT included identifying predictors of success for the scale-up of effective population health interventions, organized into eight common characteristics among projects that indicated scale-up readiness: (1) intervention evidence and evaluation, (2) reach and scale, (3) organizational capacity, (4) partnership development, (5) system readiness, (6) community context, (7) cost factors, and (8) knowledge development and exchange.Although the SRAT was not a standalone decision-making rubric, it was a key part of a framework for review, consideration, and assessment for scale-up along a phased approach to funding. The development and application of the SRAT to measure readiness for scale-up provides insights into domains that can be used by funding organizations to inform scale-up decisions or for community organizations to assess their own readiness for scale-up.RéSUMé: CONTEXTE: La Stratégie d’innovation de l’Agence de la santé publique du Canada (SI de l’ASPC) a financé l’élaboration et la mise en œuvre d’interventions liées à des questions prioritaires relatives à la santé de la population sur une période de 10 ans, de 2009 à 2020. La conception du programme de financement de la SI de l’ASPC comprend un effort déployé délibéré de mise à l’échelle pour accroître la portée et l’incidence des interventions éprouvées de promotion de la santé de la population et produire des avantages à long terme et durables pour les personnes, les collectivités et le système. INTERVENTION: Reconnaissant que l’innovation sociale et les cycles d’adaptation sont nécessaires pour une mise à l’échelle efficace, un outil d’évaluation de l’état de préparation à la mise à l’échelle (OEPME) a été élaboré et appliqué dans le cadre de la SI de l’ASPC pour évaluer le niveau de préparation à une mise à l’échelle d’un projet financé. RéSULTATS: L’élaboration de l’OEPME a inclus la détermination d’indicateurs de réussite pour la mise à l’échelle d’interventions efficaces en santé de la population, classés selon huit caractéristiques communes chez les projets ayant indiqués être prêt à une mise à l’échelle : 1) données probantes sur l’intervention et évaluation, 2) portée et échelle, 3) capacité organisationnelle, 4) établissement de partenariats, 5) état de préparation du système, 6) contexte communautaire, 7) facteurs de coût et 8) développement et échange de connaissances. IMPLICATIONS: Bien que l’OEPME ne soit pas une rubrique décisionnelle autonome, il constitue un élément clé d’un cadre d’examen, d’étude et d’évaluation en vue d’une mise à l’échelle qui s’inscrit dans une approche progressive de financement. L’élaboration et l’application de l’OEPME afin de mesurer l’état de préparation à la mise à l’échelle fournit de l’information sur des domaines qui peut être utilisée par les organismes de financement pour éclairer les décisions de mise à l’échelle ou par les organisations communautaires pour évaluer leur propre état de préparation à une mise à l’échelle.

The dynamics of SARS-CoV-2 replication and shedding in humans remain poorly understood. We captured the dynamics of infectious virus and viral RNA shedding during acute infection through daily longitudinal sampling of 60 individuals for up to 14 days. By fitting mechanistic models, we directly estimated viral expansion and clearance rates and overall infectiousness for each individual. Significant person-to-person variation in infectious virus shedding suggests that individual-level heterogeneity in viral dynamics contributes to 'superspreading'. Viral genome loads often peaked days earlier in saliva than in nasal swabs, indicating strong tissue compartmentalization and suggesting that saliva may serve as a superior sampling site for early detection of infection. Viral loads and clearance kinetics of Alpha (B.1.1.7) and previously circulating non-variant-of-concern viruses were mostly indistinguishable, indicating that the enhanced transmissibility of this variant cannot be explained simply by higher viral loads or delayed clearance. These results provide a high-resolution portrait of SARS-CoV-2 infection dynamics and implicate individual-level heterogeneity in infectiousness in superspreading.

Background Serial screening is critical for restricting spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by facilitating timely identification of infected individuals to interrupt transmission. Variation in sensitivity of different diagnostic tests at different stages of infection has not been well documented. Methods In a longitudinal study of 43 adults newly infected with SARS-CoV-2, all provided daily saliva and nasal swabs for quantitative reverse transcription polymerase chain reaction (RT-qPCR), Quidel SARS Sofia antigen fluorescent immunoassay (FIA), and live virus culture. Results Both RT-qPCR and Quidel SARS Sofia antigen FIA peaked in sensitivity during the period in which live virus was detected in nasal swabs, but sensitivity of RT-qPCR tests rose more rapidly prior to this period. We also found that serial testing multiple times per week increases the sensitivity of antigen tests. Conclusions RT-qPCR tests are more effective than antigen tests at identifying infected individuals prior to or early during the infectious period and thus for minimizing forward transmission (given timely results reporting). All tests showed >98% sensitivity for identifying infected individuals if used at least every 3 days. Daily screening using antigen tests can achieve approximately 90% sensitivity for identifying infected individuals while they are viral culture positive.

The Public Health Agency of Canada Innovation Strategy (PHAC-IS) was a national strategic funding program designed to test, deliver, scale up and evaluate complex population health interventions to determine how they bring about change, the context in which they worked best and for which populations.The PHAC-IS experience provides an opportunity to reflect on the core competencies (skills, knowledge and attitudes) for strategic grantmakers to meet the goals of a national strategic funding program focused on population health intervention research.A literature review, PHAC-IS content analysis, a document review and semi-structured interviews provided insight into a set of core competencies-organized by specific domains-that fostered a team focused on continuous improvement to apply learning and evidence from the funded projects to advance the goals of the strategic funding program.Given its multiple complexities and based on the experience of the PHAC-IS team, it is proposed that funding programs aimed toward bringing change at individual and systems levels for population health promotion may draw upon a set of competencies incorporating the fields of strategic grantmaking; intervention research and evaluation; and public administration. The authors suggest that competency in the field of cultural safety is also pertinent to the successful management and leadership of public health programs, innovations and knowledge mobilization.RéSUMé: CONTEXTE: La Stratégie d’innovation de l’Agence de la santé publique du Canada (SI de l’ASPC) était un programme national de financement stratégique conçu pour mettre à l’essai, exécuter, mettre à l’échelle et évaluer des interventions complexes en matière de santé des populations dans le but de déterminer comment elles apportent des changements et de définir le contexte dans lequel ces interventions fonctionnent le mieux et pour quelles populations. INTERVENTION: L’expérience de la SI de l’ASPC donne aux bailleurs de fonds stratégiques l’occasion de réfléchir aux compétences essentielles (compétences, connaissances et attitudes) pour répondre aux objectifs d’un programme national de financement stratégique axé sur la recherche interventionnelle en santé des populations. RéSULTATS: Une analyse documentaire, une analyse du contenu de la SI de l’ASPC, un examen des documents et des entretiens semi-structurés ont permis d’avoir une compréhension d’un ensemble de compétences essentielles—organisées par domaines spécifiques—qui ont favorisé la mise en place d’une équipe axée sur l’amélioration continue pour appliquer les enseignements et les preuves des projets financés afin de faire progresser les objectifs du programme de financement stratégique. IMPLICATIONS: D’après l’expérience de l’équipe de la SI de l’ASPC et compte tenu de leurs multiples complexités, on propose que les programmes de financement visant à apporter des changements au niveau des individus et des systèmes pour la promotion de la santé des populations puissent s’appuyer sur un ensemble de compétences intégrant les domaines de l’octroi de subventions stratégiques, de la recherche et de l’évaluation interventionnelles et de l’administration publique. Les auteures laissent entendre que la compétence dans le domaine de la sécurité culturelle est également pertinente pour la gestion et la direction fructueuses des programmes de santé publique, des innovations et de la mobilisation des connaissances.

The Public Health Agency of Canada's Innovation Strategy (PHAC-IS) was established amid calls for diverse structural funding mechanisms that could support research agendas to inform policy making across multiple levels and jurisdictions. Influenced by a shifting emphasis towards a population health approach and growing interest in social innovation and systems change, the PHAC-IS was created as a national grantmaking program that funded the testing and delivery of promising population health interventions between 2009 and 2020.During its decade-long tenure, the PHAC-IS supported the development of innovative, locally driven programs that emphasized health equity, encouraged iterative learning to respond reflexively to complex public health problems (the art), while at the same time promoting and integrating population health intervention research (the science) for improved health at the individual, community, and systems levels through four program components.PHAC-IS projects reached priority audiences in over 1700 communities. Over 1400 partnerships were established by community-led organizations across multiple sectors with more than $30 million of leveraged funds. By the final phase of funding, 90% of the projects and partnership networks had a sustained impact on policy and public health practice. By the end of the program, 82% of the projects were able to continue their intervention beyond PHAC-IS funding. Through a phased approach, projects were able to adapt, reflect, and build partnership networks to impact policy and practice while increasing reach and scale towards sustainability.Analysis and reflection throughout the course of this initiative showed that strong partnerships that contribute sufficient time to collaboration are critical to achieving meaningful outcomes. Building on evaluation cycles that strengthen project design can ensure both scale and sustainability of project achievements. Furthermore, a flexible, phased approach allows for iterative learning and adjustments across various phases to realize sustained population and systems change. The model and reflexive approach underlying the PHAC-IS has the potential to apply to a broad range of public programs.RéSUMé: CONTEXTE: La Stratégie d’innovation de l’Agence de la santé publique du Canada (SI de l’ASPC) a été établie sur fonds d’appels demandant divers mécanismes de financement structurel qui pourraient soutenir les programmes de recherche et orienter l’élaboration des politiques à plusieurs niveaux et dans de nombreuses administrations. Influencée par une réorientation vers une approche axée sur la santé de la population et un intérêt croissant pour l’innovation sociale et le changement de systèmes, la SI de l’ASPC a été créée en tant que programme national d’octroi de subventions finançant la mise à l’essai et l’exécution d’interventions prometteuses en matière de santé de la population de 2009 à 2020. INTERVENTION: Au cours de ses dix ans de fonctionnement, la SI de l’ASPC a soutenu l’élaboration de programmes novateurs et locaux axés sur l’équité en santé et a encouragé l’apprentissage itératif afin de répondre instinctivement à des problèmes de santé publique complexes (l’art), tout en favorisant et en intégrant la recherche interventionnelle en santé de la population (la science) pour améliorer la santé au niveau des individus, des communautés et des systèmes au moyen de quatre éléments de programme. RéSULTATS: Les projets de la SI de l’ASPC ont rejoint des publics prioritaires dans plus de 1 700 communautés. Plus de 1 400 partenariats ont été établis par des organisations communautaires dans plusieurs secteurs, et plus de 30 millions de dollars de fonds ont été mobilisés. À la phase finale du financement, 90 % des projets et réseaux de partenariat avaient une incidence durable sur les politiques et pratiques en matière de santé publique. À la fin du programme, 82 % des projets ont pu poursuivre leur intervention au-delà du financement de la SI de l’ASPC. Grâce à une approche progressive, les projets ont pu s’adapter, réfléchir et créer des réseaux de partenariat pour avoir une incidence sur les politiques et pratiques tout en augmentant leur portée et leur mise à l’échelle vers la durabilité. IMPLICATIONS: L’analyse et la réflexion tout au long de cette initiative ont démontré que de solides partenariats qui accordent suffisamment de temps à la collaboration sont essentiels à l’obtention de résultats significatifs. S’appuyer sur des cycles d’évaluation qui permettent de renforcer la conception des projets peut favoriser la mise à l’échelle et la durabilité des réalisations des projets. De plus, l’adoption d’une approche flexible et progressive permet un apprentissage itératif et des ajustements à différentes phases pour réaliser des changements durables au sein de la population et des systèmes. Le modèle et l’approche réflexive qui sous-tendent la SI de l’ASPC pourraient être appliqués à un large éventail de programmes publics.

Background: The RAS-RAF-MEK-ERK pathway is commonly upregulated in human cancers. This is an open-label Phase 1 study of ASTX029, a dual-mechanism extracellular signal-regulated kinase 1/2 (ERK1/2) inhibitor, in subjects with relapsed/refractory solid tumors (NCT03520075). Methods: The primary objectives are to identify a maximum tolerated dose and/or recommended Phase 2 dose. ASTX029 was administered orally daily of 21-day cycles as powder-in-bottle (PiB, Cohort 1/10mg) and tablet formulation (beginning with Cohort 6/80 mg) under fed conditions, and as tablet formulation under fasting conditions (beginning with Cohort 8/40 mg). Dose escalation occurred according to a “3+3 design” based on dose-limiting toxicity (DLT) events. Disease response was evaluated according to RECIST v1.1 and exploratory indicators, including tumor variant allele frequency changes detected by cell-free DNA (cfDNA) quantitation. Results: 56 subjects were treated with at least one dose of ASTX029 in Phase 1A (dose escalation). Of 46 subjects with data, 35 (76%) had any RAS mutations and 4 (9%) had BRAF mutations; 1 subject had both. At the 200 mg dose level (Cohort 5, PiB/fed), one of six evaluable subjects developed a DLT (grade 3 maculopapular rash). At the 280 mg dose level (Cohort 12, tablet/fasting), two subjects experienced grade 2 central serous retinopathy adverse events (CSR AEs) within a few days of dosing. These were the only CSR AEs noted and one event was declared a DLT. Both subjects recovered to baseline within days of dose interruption. One cohort level below this dose was expanded (Cohort 11/200 mg, tablet/fasting); this dose level was deemed safe (without a DLT or grade ≥2 visual AE in 7 subjects) and was selected for Phase 1B dose expansion. Mean pharmacokinetic (PK) exposure was 151% of target exposure, which is defined as the level expected to have biological activity based on animal studies. The most frequent grade ≥2 AEs assessed as drug-related included nausea (4 subjects, grade 2) and transaminitis (4 subjects: 3 grade 2, 1 grade 3). The grade 3 transaminitis occurred in a subject with metastatic sarcoma involving the liver. There was one serious AE of malaise considered related to study drug. Two subjects, one with KRAS-G12A and BRAF-D549N non-small cell lung cancer (120 mg) and one with KRAS-G12D metastatic pancreatic cancer (200 mg), achieved partial responses (cycle 15/ongoing and cycle 3/ongoing, respectively). In 2 subjects with stable disease as the best response, longitudinal cfDNA sequencing showed a decrease of tumor variant allele frequencies after 2 cycles of ASTX029, followed by a return to baseline levels before disease progression. The most common reason for ASTX029 discontinuation was disease progression. Conclusions: This Phase 1A study of the ERK1/2 inhibitor ASTX029 has identified a dose level of 200 mg daily of a 21-day cycle for investigation in the Phase 1B portion of the study. Pharmacokinetic and pharmacodynamic data suggest target exposures are achieved with preliminary clinical activity. Citation Format: Patricia LoRusso, Drew Rasco, Geoffrey Shapiro, Filip Janku, Alain Mita, Nilofer Azad, Marcia Toguchi, Chris Hindley, Shannon Bradley, Danna Chan, Harold Keer, Kim-Hien Dao, Ryan J. Sullivan, Alexander Spira. A first-in-human, Phase 1 study of ASTX029, a dual-mechanism inhibitor of ERK1/2, in relapsed/refractory solid tumors [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr CT108.

When hydrologic scientists are looking for data to use in their data models relevant to their research area, they encounter a bottleneck when trying to collect relevant information, sometimes they might not know of all the available sources. Great Lakes Monitoring (GLM) collects data from 5 different state and federal agencies that take measurements on nutrients, geochemicals, contaminants, among other water quality data that directly affect the water health in the Great Lakes. In this paper, we describe the cyberinfrastructure that has been implemented in order to address this issue. To accomplish this, it cleans and organizes the data into a semi-standardized schema, ingests the data to a database, and takes advantage of a user interface for data visualizations. On top of this, trends for selected parameters can be observed within a map, data can be searched, downloaded in various formats and compared across different locations within the Great Lakes.

Second Life (SL) offers unique opportunities for research and exploration in virtual environments. A review of current research regarding SL has examined the influence of real world social influences in online interactions and what the effects on users may be. This suggests the importance of developing an understanding of the relationship between users' real life (RL) and their SL. Some research has begun to reveal the effectiveness of telecommunication and computer simulation with certain clients in the fields of mental health and human services, yet there is a lack of sufficient research done within the context of virtual worlds. This study illustrates a methodology which can be used for online and in-world survey data collection of participants in SL. Limitations encountered as well as suggestions for refinement are discussed. Implications for human services are discussed including engaging clients using incentives for social participation built into the SL milieu.

Due to the unique applications of virtual reality in many modern contexts, Second Life (SL) offers inimitable opportunities for research and exploration. A review of current research regarding SL has examined the influence of real world social influences in online interactions and what the effects on users may be. This suggests the importance of developing an understanding of the relationship between users’ real life and their Second Life, and how the two are related. Some research has begun to reveal the effectiveness of telecommunication and computer simulation with certain clients in the fields of mental health and social work, yet there is a lack of sufficient research done within the context of virtual worlds. The implications for social work intervention in virtual reality could solve persistent concerns with transportation, distance, access to services and education, however questions about the relevance of social work practice in SL and the potential for implementation must be answered.

Fermented milk products produced with probiotic lactic acid bacteria (LAB) have attracted interest due to their potential health benefits. Probiotic bacteria have a range of immunomodulatory activity, interacting with a variety of cell types in the immune system. Interactions with intestinal epithelial cells (IEC) are an avenue through which probiotics and their fermented milks can influence production of key immunoregulatory molecules, including cytokines and eicosanoids. The eicosanoids, which include the prostaglandins (PGs), are lipid mediators implicated in both acute and chronic inflammatory processes. The primary objective of this study was to determine the ability of probiotic LAB and their ferments to interact with IEC and influence their eicosanoid production. Effects of LAB and their milk ferments on prostaglandin E 2 (PGE 2 ) and prostaglandin F 2α (PGF 2α )production by human IEC lines were determined using a competitive enzyme immunoassay. LAB alone did not alter interleukin (IL)-1β-induced prostaglandin production by IEC. However, milk fermented with Lactobacillus (L.) rhamnosus strain R0011 significantly suppressed IL-1β-induced levels of PGE 2 and PGF 2α , an effect which was counteracted by the addition of strain R0011. Milk ferments prepared with L acidophilus strain R0052 were less effective in down-regulation of PG production by IEC. Naltrexone, an opioid receptor antagonist, blocked the suppressive effects of L rhamnosus R0011 milk ferments on PGF 2α production by IEC, suggesting that the bioactivity the ferments is opioid receptor-mediated. These findings support immunomodulatory potential of fermented food components through interactions with intestinal epithelial cells.

As a participant in the mucosal immune response, the intestinal epithelial cell must respond to a variety of stimuli, including lactic acid bacteria (LAB) consumed in the diet. The objective of this study was to compare the abilities of several strains of LAB to modulate cytokine secretion by human intestinal epithelial cell (IEC) line HT-29. Certain strains of Lactobacillus rhamnosus, Lactobacillus delbrueckii, and Lactobacillus acidophilus suppressed the production of the chemokine RANTES by stimulated HT-29 IEC, although the magnitude of this suppression varied depending on the nature of the bacterial growth medium. Similarly, specific strains showed growth condition-dependent suppression of HT-29 interleukin-8 (IL-8) production. Strain-dependent effects were also seen for the suppression of tumor necrosis factor alpha (TNF-alpha) and transforming growth factor beta (TGF-beta) production. The binding of several of these bacterial strains to the HT-29 cell line was also examined. Different strains were found to have differing abilities to interact with IEC, with L. rhamnosus R0011 being the strain that generally had the most extensive effects on HT-29 cytokine production and also bound to HT-29 IEC most effectively. Modulation of IEC cytokine production has the potential to profoundly affect the mucosal microenvironment, influencing the immune response to pathogens and other ingested antigens.

We have identified three novel, rarely expressed human genes that encode new members of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family based on sequence homology. BPI and other members of the LT/LBP family are structurally related proteins capable of binding phospholipids and lipopolysaccharides. Real-time PCR studies indicate that BPIL1 and BPIL3 are highly expressed in hypertrophic tonsils. In situ hybridization analysis of BPIL2 shows prominent expression in skin specimens from psoriasis patients. BPIL1 and BPIL3 map to Chromosome 20q11; thus, these novel genes form a cluster with BPI and two other members of the LT/LBP gene family on the long arm of human Chr 20. BPIL2 maps to Chr 22q13. The exon/intron organization of all three genes is highly conserved with that of BPI, suggesting evolution from a common ancestor.

Intestinal epithelial cells (IECs) act as a key point of initial contact with bacteria in the microenvironment of the intestinal tract. Interactions between IECs and bacteria lead to alterations in IEC activity, including modified cytokine secretion patterns, which may influence the mucosal immune response. IECs respond to lipopolysaccharide (LPS) from gramnegative bacteria by production of pro-inflammatory cytokines, including interleukin-8 (IL-8). Two strains of Lactobacillus rhamnosus , R0011 and R0049, were able to down-regulate LPS-induced IL-8 production by the human IEC line HT-29. Similar results were seen with KATO III gastric epithelial cells, suggesting a possible route for anti-inflammatory actions by L. rhamnosus . To further explore potential interactions in the gastrointestinal mucosal microenvironment, the effects of the neuropeptide vasoactive intestinal peptide (VIP) on the actions of L. rhamnosus R0011 were examined. VIP blocked the ability of this strain to down-regulate both constitutive and LPS-induced IL-8 production, suggesting that interactions between lactic acid bacteria (LAB) and IECs can be influenced by neuropeptides released into intestinal tissues. High levels of protein kinase A (PKA) and protein kinase C (PKC) activation rendered IEC refractory to the down-regulatory effects of L. rhamnosus on IL-8 production. L. rhamnosus R0011 induces moderate elevation of intracellular cAMP levels, indicating that its actions may, at least in part, be mediated through this signalling pathway in IECs. Key words: interleukin-8, vasoactive intestinal peptide, lactobacilli, probiotics, intestinal epithelial cell

Background: von Hippel–Lindau (VHL) disease is an autosomal dominant condition characterized by the development of benign and malignant tumours, including cases of renal cell carcinoma (RCC). Early detection of RCC through routine surveillance can lead to decreased morbidity and mortality. Data on the number of patients in Nova Scotia (NS) who have VHL disease, disease manifestations and the frequency and mode of the surveillance have not previously been collected or reported. This project was designed to obtain that information. Methods: The number and management of patients with VHL disease was determined by multiple sources: the Maritime Medical Genetics Service, patient charts, and pathology, radiology and laboratory data. The actual surveillance being performed was compared with that recommended in the literature. Results: Twenty-one patients from 11 families in NS were identified. Manifestations included cases of RCC (31.6%), central nervous system (CNS) hemangioblastoma (73.7%), retinal hemangioma (47.4%), renal cyst (47.4%) and pheochromocytoma (10.5%). Of the 6 patients with RCC, 4 had bilateral tumours, 2 required kidney transplants and 1 developed metastatic disease. Routine surveillance was being done for the CNS in 62.5% of patients, retina in 47.4%, abdomen in 43.8% and urine catecholamines in only 10.5%. Only 1 of the 6 patients who developed RCC was undergoing routine abdominal imaging. Surveillance investigations were ordered by a number of different specialists. Conclusion: Patients with VHL disease in NS have a number of manifestations associated with their disease, including RCC, in a similar frequency to that reported in the literature. The surveillance of these patients is suboptimal in frequency and coordination. von Hippel–Lindau disease is a complex condition that requires a coordinated approach to care to ensure proper surveillance and treatment. Our study highlights current deficiencies and offers an enormous opportunity for improvement. Generalites : La maladie de von Hippel-Lindau (VHL) est une maladie a transmission autosomique dominante caracterisee par la formation de tumeurs benignes et malignes, dont l’hypernephrome. Le depistage precoce de l’hypernephrome par des examens reguliers peut amener une reduction de la morbidite et de la mortalite. On ne sait pas combien de personnes sont atteintes de VHL en Nouvelle-Ecosse, quelles sont les manifestations de la maladie chez ces patients et quels tests de depistage sont effectues et a quelle frequence. Le projet decrit ici visait a obtenir ces renseignements. Methodologie : Le nombre et la methode de prise en charge des patients atteints de VHL ont ete etablis a l’aide de plusieurs sources : la Clinique de genetique medicale des Maritimes, des dossiers de patients, des rapports de pathologie et de radiologie et des analyses de laboratoire. Les methodes de surveillance mises en place ont ete comparees aux methodes recommandees dans la litterature medicale. Resultats : Vingt et un patients de 11 familles de Nouvelle-Ecosse ont ete cernes. Les manifestations incluaient : hypernephrome (31,6 %), hemangioblastomes siegeant au niveau du SNC (73,7 %), hemangiomes retiniens (47,4 %), kystes renaux (47,4 %) et pheochromocytomes (10,5 %). Sur les six patients porteurs d’un hypernephrome, 4 avaient des tumeurs bilaterales, 2 ont eu besoin d’une transplantation renale et un patient a presente des metastases. De tous les patients atteints de VHL, 62,5 % ont subi des tests reguliers de depistage au niveau du SNC, 47,4 %, au niveau de la retine, 43,8 %, au niveau de l’abdomen, et seulement 10,5 % des patients ont subi des tests reguliers de depistage des catecholamines urinaires. Sur les 6 cas d’hypernephrome, un seulement subissait des epreuves regulieres d’imagerie au niveau de l’abdomen. Les tests de depistage avaient ete prescrits par differents specialistes. Conclusion : Les cas de VHL en Nouvelle-Ecosse presentent un certain nombre de manifestations liees a cette maladie, dont l’hypernephrome, a une frequence proche de celle mentionnee dans la litterature. La frequence et la coordination des epreuves de depistage sont sous-optimales. La maladie de VHL est une affection complexe necessitant une bonne coordination des soins afin d’assurer une surveillance et un traitement adequats. Cette etude montre les lacunes actuelles et pointe vers des ameliorations substantielles.