I will discuss the formation and subsequent growth of IRDiRC into an organization with nearly 40 public and private funder members who have collectively pledged over 1 billion euros for rare disease research. I will also present the goals of IRDiRC, the plan that has been developed to achieve them, and the progress that has been made thus far. Finally, I will explore how additional organizations can take part in this international collaborative effort
Session Two: Barriers to investment in research to find a disease modifying therapy or cure for dementia
Dr Neil Buckholtz , Director of Neuroscience, the National Institute on Aging (NIA), National Institutes of Health (NIH)
2020 02-10 European Center Pharmaceutical Medicine course - biomarkers, Basel...Alain van Gool
Review of biomarkers in personalized healthcare covering pharmaceutical drug development, translational clinical research, digital biomarkers and innovation gaps. This lecture was given as part of an advanced and fantastic pharmaceutical sciences course provided by ECPM.
2021 03-25 11th World Clinical Biomarkers & Companion Diagnostics, Alain van ...Alain van Gool
Closing keynote of a 3-day conference on clinical biomarkers and companion diagnostics, organised by Hanson Wade, outlining the power of omics approaches in healthcare and translation of inovations to impact.
Standards for public health genomic epidemiology - Biocuration 2015Melanie Courtot
A presentation introducing genomic epidemiology and its application in public health. It also explains the need for standards to support the Canadian Integrated Rapid Infectious Disease Analysis platform which implements genomic epidemiology analyses for detection and investigation of infectious disease outbreaks caused by food-borne pathogens.
Session Two: Barriers to investment in research to find a disease modifying therapy or cure for dementia
Dr Neil Buckholtz , Director of Neuroscience, the National Institute on Aging (NIA), National Institutes of Health (NIH)
2020 02-10 European Center Pharmaceutical Medicine course - biomarkers, Basel...Alain van Gool
Review of biomarkers in personalized healthcare covering pharmaceutical drug development, translational clinical research, digital biomarkers and innovation gaps. This lecture was given as part of an advanced and fantastic pharmaceutical sciences course provided by ECPM.
2021 03-25 11th World Clinical Biomarkers & Companion Diagnostics, Alain van ...Alain van Gool
Closing keynote of a 3-day conference on clinical biomarkers and companion diagnostics, organised by Hanson Wade, outlining the power of omics approaches in healthcare and translation of inovations to impact.
Standards for public health genomic epidemiology - Biocuration 2015Melanie Courtot
A presentation introducing genomic epidemiology and its application in public health. It also explains the need for standards to support the Canadian Integrated Rapid Infectious Disease Analysis platform which implements genomic epidemiology analyses for detection and investigation of infectious disease outbreaks caused by food-borne pathogens.
2020 08-28 SensUs Event 2020 keynote, Eindhoven, Alain van GoolAlain van Gool
Closing keynote for international students participating in the SensUs Event 2020, where they designed and created a novel sensor for drug level monitoring in epilepsy treatment. Lecture outlined innovations in biomarkers in personalized health(care).
2020 09-07 European Center Pharmaceutical Medicine course Biomarkers, Basel, ...Alain van Gool
Tutorial lecture on biomarkers for pharmaceutical industry R&D professionals, outlining status, potential and challenges of biomarkers in pharma, clinic and society.
PROMISE ethics panel final report, October 17, 2012erikanature
Final report of a specially commissioned panel tasked with examining the ethics of the PROMISE trials, which study different drug regimens to prevent mother to child transmission of HIV. The trials are sponsored by the US National Institute of Allergy and Infectious Disease, which commissioned the ethics review.
From Bits to Bedside: Translating Big Data into Precision Medicine and Digita...Dexter Hadley
Lecture Objectives:
1) To use examples from my research to define and introduce the ideals of precision medicine and digital health. 2) To introduce how large scale population-wide analysis of data can be used to facilitate these two ideals. 3) To introduce how freely available open data can be used to facilitate these two ideals. 4) To show how mobile technology can be used to facilitate these two ideals.
2019 06-19 Dutch association for clinical chemistry and laboratory medicine -...Alain van Gool
Sharing my views on how X-omics biomarker analyses through next gen sequencing and mass spectrometry will change the landscape of diagnostics and clinical chemistry in the near future.
Fast-track the end of AIDS in the EU - practical evidence-based interventions.
Presentation by: Jean-Michel Molina, Assistance Publique Hôpitaux de Paris
In a two-day meeting under the auspices of the Maltese Presidency of the Council of the European Union (30-31 January 2017), HIV experts from across the European Union discussed how to reverse this trend and how to prepare Europe to achieve the set target of ending AIDS by 2030.
Investigating the Health of Adults: Leveraging Large Data Sets For Your Stud...CTSI at UCSF
Overview of UCSF-CTSI Comparative Effectiveness Large Dataset Analysis Core with emphasis on large, public data sets for studying the health of adults and the care they receive.
I cet feng an clean truck program in china 2011 baltimoreCALSTART
Presentation by iCET's Feng An on China's Clean Truck Program.
The US-China Clean Truck Forum (China Clean Truck) aims to facilitate advanced truck technology cooperation and exports by providing market and policy information, targeted assistance, and partnership development. CALSTART – together with partners GTSAC (Green Truck Strategic Alliance of China) and iCET (Innovation Center for Energy and Transportation) – created the cooperative program to meet these goals, in a program partnership with the US Department of Commerce and its International Trade Administration. Among other things, China Clean Truck will include a China Clean Truck Markets and Business Guide for US companies as well as face-to-face symposiums in China with leading companies and agencies.
2020 08-28 SensUs Event 2020 keynote, Eindhoven, Alain van GoolAlain van Gool
Closing keynote for international students participating in the SensUs Event 2020, where they designed and created a novel sensor for drug level monitoring in epilepsy treatment. Lecture outlined innovations in biomarkers in personalized health(care).
2020 09-07 European Center Pharmaceutical Medicine course Biomarkers, Basel, ...Alain van Gool
Tutorial lecture on biomarkers for pharmaceutical industry R&D professionals, outlining status, potential and challenges of biomarkers in pharma, clinic and society.
PROMISE ethics panel final report, October 17, 2012erikanature
Final report of a specially commissioned panel tasked with examining the ethics of the PROMISE trials, which study different drug regimens to prevent mother to child transmission of HIV. The trials are sponsored by the US National Institute of Allergy and Infectious Disease, which commissioned the ethics review.
From Bits to Bedside: Translating Big Data into Precision Medicine and Digita...Dexter Hadley
Lecture Objectives:
1) To use examples from my research to define and introduce the ideals of precision medicine and digital health. 2) To introduce how large scale population-wide analysis of data can be used to facilitate these two ideals. 3) To introduce how freely available open data can be used to facilitate these two ideals. 4) To show how mobile technology can be used to facilitate these two ideals.
2019 06-19 Dutch association for clinical chemistry and laboratory medicine -...Alain van Gool
Sharing my views on how X-omics biomarker analyses through next gen sequencing and mass spectrometry will change the landscape of diagnostics and clinical chemistry in the near future.
Fast-track the end of AIDS in the EU - practical evidence-based interventions.
Presentation by: Jean-Michel Molina, Assistance Publique Hôpitaux de Paris
In a two-day meeting under the auspices of the Maltese Presidency of the Council of the European Union (30-31 January 2017), HIV experts from across the European Union discussed how to reverse this trend and how to prepare Europe to achieve the set target of ending AIDS by 2030.
Investigating the Health of Adults: Leveraging Large Data Sets For Your Stud...CTSI at UCSF
Overview of UCSF-CTSI Comparative Effectiveness Large Dataset Analysis Core with emphasis on large, public data sets for studying the health of adults and the care they receive.
I cet feng an clean truck program in china 2011 baltimoreCALSTART
Presentation by iCET's Feng An on China's Clean Truck Program.
The US-China Clean Truck Forum (China Clean Truck) aims to facilitate advanced truck technology cooperation and exports by providing market and policy information, targeted assistance, and partnership development. CALSTART – together with partners GTSAC (Green Truck Strategic Alliance of China) and iCET (Innovation Center for Energy and Transportation) – created the cooperative program to meet these goals, in a program partnership with the US Department of Commerce and its International Trade Administration. Among other things, China Clean Truck will include a China Clean Truck Markets and Business Guide for US companies as well as face-to-face symposiums in China with leading companies and agencies.
Cut Off Vampire Appliances' Phantom Loads with Tripp LiteTripp Lite
Phantom power is costing you up to $200 per year! Cut power to electronics that are sucking you dry. Items like computers, media players, cell phone chargers and lamps may be in the off position, but they're still using electricity while plugged in. With Tripp Lite's ECO-Surge Protectors and ECO-UPS Systems, you can banish phantom loads with power save outlets.
What other pieces in your house are vampires?
Cooperative relationships between school libraries and public libraries have the potential to enrich school students' learning and advance lifelong learning in the wider community. Research findings.
Ségolème Aymé - Infraestructuras de I + D para impulsar investigación en Enfe...Fundación Ramón Areces
El 29 de octubre de 2014, la Fundación Ramón Areces celebró una nueva conferencia del ciclo de Enfermedades Raras organizado con el Vall d'Hebron Institute of Research de Barcelona. En esta ocasión, Ségolène Aymé, directora emérita de investigación del INSERM, fundadora de Orphanet y presidenta del Grupo Consultivo Temático sobre Enfermedades Raras en la OMS, habló sobre 'Las infraestructuras de I+D necesarias para impulsar la investigación en Enfermedades Raras'. Antes de su intervención, explicó en esta entrevista cómo mejorar las políticas de investigación en patologías poco frecuentes.
EuroBioForum 2013 - Day 2 | Mark PoznanskyEuroBioForum
EuroBioForum 2013 2nd Annual Conference
27-28 May 2013 - Hilton Munich City, Munich, Germany
http://www.eurobioforum.eu/2013
=======================================
# REGIONAL PERSPECTIVES #
Ontario Genomics Institute, Canada:
Innovative Research, Innovative Translation
Dr Mark Poznansky
President and CEO Ontario Genomics Institute
=======================================
http://www.eurobioforum.eu
Enfermedad minoritaria, terapias nuevas. Una patología que afecta a menos de cinco personas por cada 10.000 habitantes es considerada una enfermedad rara o minoritaria. 35 millones de europeos se ven afectados por alguna de ellas. El 80% son de origen genético y conseguir un diagnóstico rápido es vital para asegurar la calidad de vida futura. La clave, una vez más, es apostar y potenciar la investigación biomédica. Se revisarán los resultados obtenidos los últimos 14 años, en el marco científico y regulador impulsado por la UE desde el año 2000. Sin embargo, se analizarán las dificultades y oportunidades para impulsar la investigación traslacional en estas enfermedades.
Sigue la presentación en Youtube: https://www.youtube.com/watch?v=d4U4a8xFCzA&
PHARMACOVIGILANCE_SLIDE. Insight to pharmacovigilance, covering basics and va...ssharmapharmacy005
Insight to pharmacovigilance,
covering basics and various aspects, case processing types of ADR, basic terminologies
adr reporting dverse vent, types of adr, meddra
Dr. Alex Morrow - Global Coordination of Animal Disease ResearchJohn Blue
Global Coordination of Animal Disease Research - Dr. Alex Morrow, STAR‐IDAZ, from the 2016 North American PRRS Symposium, December 3‐4, 2016, Chicago, Illinois, USA.
More presentations at http://www.swinecast.com/2016-north-american-prrs-symposium
UCD Rare Disease Module 2017 - Dr Derick Mitchell - March 28th 2017ipposi
Medical students taking the elective course in rare diseases are provided a number of patient perspectives throughout the module. This is what IPPOSI presented in 2017.
Dr Nicolas Sireau, Chairman and CEO, AKU Society, Chairman and Co-founder, Findacure, a speaker at the Evolution Summit 2014, discusses 10 steps from Black Bone Disease
EuroBioForum 2013 - Day 1 | Etienne RicherEuroBioForum
EuroBioForum 2013 2nd Annual Conference
27-28 May 2013 - Hilton Munich City, Munich, Germany
http://www.eurobioforum.eu/2013
=======================================
# NATIONAL PERSPECTIVES #
Canada:
Personalised Medicine: A Canadian Collaborative Perspective'
Dr Étienne Richer, Assistant Director at CIHR Institute of Genetics
=======================================
http://www.eurobioforum.eu
Why Precision Medicine and Personalized Healthcare and Why Now? Links to Canada’s Rare Disease Strategy The Future is Now
1) Marc LePage, Genome Canada
2) Michael Duong, Roche
3) Danica Stanimirovic, National Research Council
4) Daniel Gaudet, University of Montreal
5) Christine Dalgleish, Patient Perspective
6) Jamie Bruce, Khure Health
Research managers jan 14th, 2016 - ipposi presentationipposi
Irish Platform for Patient Organisations, Science & Industry - the importance of patient involvement in research, and patient training on medicines development and health research.
PPPI - the involvement of patients or people in the design and development o...ipposi
Dr Jean Saunders, University of Limerick, and IPPOSI Board Member (Science) presents at the 5th World Congress on Advanced Clinical Trials and Clinical Research on public and patient involvement in clinical trials.
Similar to IRDiRC: State of the Art. By Paul Lasko, PhD (20)
The differences between a cow and a monkey are clear. It is easy to tell a moth from a mosquito. So why are there still scientific studies that mix them up? The answer is simple: hundreds of cell lines stored and used by modern laboratories have been wrongly identified. Some pig cells are labelled as coming from a chicken; cell lines advertised as human have been shown to contain material from hamsters, rats, mice and monkeys. Problems have already been found with more than 400 cell lines. (Cited from Nature 520 (2015)).
An increasing number of scientific publications (i.e. Nature journals) are now sistematically asking for cell line authentication at the moment of paper submission. To help researchers to meet this requirement, UAT is starting to offer a new service for human cell line authentication.
Se realiza una revisión sobre los diversos mecanismos neuroendocrinos que ocurren en la madre y en el recién nacido, y que están relacionados con el inicio y consolidación del apego entre ambos. Se expone el papel que diferentes hormonas y neurotransmisores juegan en la regulación del vínculo en relación con el parto, el postparto inmediato y la lactancia. La interferencia en el inicio del apego entre madre e hijo puede tener potenciales efectos a largo plazo en el comportamiento y en el afecto del recién nacido. La influencia que determinados aspectos relacionados con el parto (como la realización de una cesárea electiva, la administración de hormonas durante el parto, el nacimiento prematuro, la separación madre-hijo o la alimentación mediante biberón) puedan tener sobre el mecanismo neuroendocrino del vínculo y sus consecuencias son objeto de esta revisión
16/03/2015 Seminario VHIR
Dr. Sergio Sosa-Estani. Director del Instituto Nacional de Parasitología "Dr. Mario Fatala Chabén", investigador del Consejo Nacional de Investigaciones Científicas y Técnicas (Conicet). Buenos Aires, Argentina.
Director del Instituto Nacional de Parasitología-Dr. Mario Fatala Chaben en Argentina. El instituto está involucrado en un extenso programa de investigación, incluso como un referente regional en el diagnóstico, prevención y control de enfermedades prevalentes y emergentes en Argentina, tales como la enfermedad de Chagas, Leishmaniasis y otras.
Sosa-Estani desempeñó como director de la Unidad de Vector Borne de Control de Enfermedades del Ministerio de Salud de Argentina. Tiene más de 50 publicaciones a su nombre, y es el investigador principal o co-investigador en diez proyectos de investigación en curso o finalizados.
Presentation carried out by Casandra Riera, researcher from the Translational Bioinformatics group at VHIR, for the course "Identification and analysis of sequence variants in sequencing
projects: fundamentals and tools"
Presentation carried out by Xavier de la Cruz, head of the Translational Bioinformatics group at VHIR, at the course: Identification and analysis of sequence variants in sequencing projects: fundamentals and tools.
Presentation carried out by Sophia Derdak, from the Data Analysis Team at CNAG, at the course "Identification and analysis of sequence variants in sequencing projects: fundamentals and tools".
Presentation carried out by Sergi Beltran Agulló, from the CNAG, at the course: Identification and analysis of sequence variants in sequencing projects: fundamentals and tools .
Presentation carried out by CNAG's director, Ivo Gut, at the course: Identification and analysis of sequence variants in sequencing projects: fundamentals and tools.
Watch the video of the presentation on Youtube:https://www.youtube.com/watch?v=E6CmOWR8klI&feature=youtu.be
Seasonal influenza continues to cause yearly epidemics resulting in severe disease and a significant number of deaths despite available vaccines and antivirals. Even more concerning is the ability of influenza virus to cause pandemics every 10-50 years. In the last years, we and other have characterized several features associated with virus virulence and tropism. In addition, new developments suggest the possibility of universal influenza virus vaccines that induce protective antibodies against conserved regions.
La recerca bàsica i traslacional en malalties rares és fonamental per entendre la fisiologia humana i per desenvolupar teràpies innovadores sovint útils també per malalties molt més prevalents. L’anèmia de Fanconi, caracteritzada per disfunció de la medul·la òssia i predisposició tumoral, n’és un exemple edificant. El primer transplantament de cordó umbilical de la història de la medicina fou en un pacient Fanconi. El primer nen medicament va néixer per curar un pacient Fanconi. El primer cop que s’han generat teixits sans per auto-transplantament curant, desprogramant i re-diferenciant cèl·lules de la pell d’un malalt ha estat en anèmia de Fanconi. I els primers assajos clínics de teràpia gènica s’estan desenvolupat també en malalties de la sang com l’anèmia de Fanconi. Aquests són alguns exemples de com l’estudi de malalties rares por transcendir més enllà del pacient afecte en benefici de tota la societat.
Prof. Milan Macek. Professor of Medical and Molecular Genetics Chairman of Department of Biology and Medical Genetics Division of Clinical Molecular Genetics and the National Cystic Fibrosis Centre- University Hospital Motol and 2nd School of Medicine -Charles University Prague- Czech Republic.
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There is an increasing need to manage cost-effectiveness issues of novel or relatively expensive technologies that are currently in use or being proposed for the treatment of rare diseases. Cystic fibrosis (CF), where so called „CFTR modulating therapies“ rendered by several novel orphan medicinal products (e.g. ivacaftor, lumacaftor) are rapidly being introduced into clinical practice, will be used as a model. Health-economic evaluations of rising pharmacotherapeutic costs, as the major driver of overall cost, have to be part of the cost analysis of chronic and progressive (rare) diseases like CF that may require lifelong therapy. Total costs include not only direct healthcare costs but also the cost of lost productivity by both patients and family caregivers. When considering the results of cost-effectiveness analysis of new technologies associated with the management of CF, it is unreasonable to expect that the incremental cost-effectiveness ratio to be less than the generally applied thresholds (willingness to pay) for other common diseases. This issue is further compounded by mutation specific therapies for a subset of the overal cohort of CF patients. Therefore, when assessing CF and other rare diseases, such analyses should include complex health technology assessment approaches, which evaluate comparative treatment effectiveness (novel and established), as well as wider social benefits and ethical aspects. We will present the experience of the Prague CF center in terms of costs of illness studies and pharmacoeconomical approaches to studying children and adolescents with this disease.
La disponibilidad de un sistema de multiplicación del virus de la hepatitis C (VHC) infeccioso en cultivos celulares está permitiendo investigar nuevos factores de respuesta a tratamientos antivíricos en condiciones controladas. Se presentará evidencia de que el fitness vírico puede ser un factor de multiresistencia a inhibidores y quese pueden obtener eficientes reducciones de carga viral empleando diseños secuenciales de administración de inhibidores que incluyan ribavirina. Se discutirán posibilidades de aplicación clínica.
The research interest of the investigator has focused on the molecular and cellular pathogenesis of sepsis. In particular, he has worked on soluble proteins involved in the innate recognition of bacteria such as soluble CD14 and MD-2, as well as in the Toll-like receptors activated by Gram-negative and Gram-positive bacteria. Another area of study is the molecular pathogenesis and cell signaling of ventilator-induced lung injury, and lung inflammation in the context of acute respiratory distress syndrome. He has also identified and tested biomarkers in the field of clinical sepsis.
Watch the presentation on Youtube: https://www.youtube.com/watch?v=CyWN7JlhlmI&
Seminario por el Sr. Juan Carrión: Presidente de la Federación Española de Enfermedades Raras (FEDER).
Desde FEDER se trabaja diariamente para promover y defender los derechos de 3 millones de personas con enfermedades raras. De esta forma, durante la ponencia trasladaremos las principales necesidades de las familias para lograr una adecuada atención social y sanitaria, así como cuáles son las líneas prioritarias que impulsamos desde FEDER en la búsqueda de soluciones ante los problemas que nos afectan.
Ver el vídeo del seminario aquí: https://www.youtube.com/watch?v=h091vwp40d0&feature=youtu.be
Watch the video of the presentation on Youtube: https://www.youtube.com/watch?v=WRegqg5yvRs
El Dr Welte té nombroses publicacions en àrees diverses relacionades amb el malalt crític. Particularment interessants són els seus estudis en relació al trasplantament pulmonar, així com els seus estudis sobre pneumònia i sèpsia. Així mateix, participa activament en la xarxa alemanya Capnetz, emprada per a l'elaboració d'estudis multicèntrics relacionats amb la pneumònia adquirida a la comunitat.
Rare diseases Conferences at Fundación ARECES-VHIR
Research in rare diseases is a very active and promising field. Nevertheless,even if it is not always obvious, requirements of the pharmaceutical regulations may be seen as a source of hurdles for a successful progress in medical science. The presentation will discuss how the regulatory framework can promote research and steer its translation into safe and efficacious products for rare diseases.
Watch the video of the seminar on Youtube: https://www.youtube.com/watch?v=dIYCC8cljt8
Over the last decades, more than 35 different definitions have been used to describe acute kidney injury (AKI). Multiple definitions for AKI have obviously led to a great disparity in the reported incidence and mortality of AKI making it difficult or even impossible to compare the various published studies focusing on AKI. Therefore, it became crucial to establish a consensual and accurate definition of AKI that could desirably be used worldwide. Recent consensus criteria for AKI definition and classification [the Risk Injury Failure Loss of kidney function End-stage kidney disease (RIFLE) and the Acute Kidney Injury Network (AKIN) classifications] have led to more consistent estimates of its epidemiology. This review will present and critically discuss current literature about AKI diagnosis and epidemiology.
Metagenomic projects provide a unique window into the genetic composition of microbial communities. To date, metagenomic analyses have focused primarily on studying the composition of microbial populations and inferring shared metabolic pathways. In this work we analyze how high-quality metagenomic data can be leveraged to infer the composition of transcriptional regulatory networks through a combination of in silico and in vitro methods. Using the SOS response as a case example, we analyze human gut microbiome data to determine the composition of the SOS meta-regulon in a natural context. Our analysis provides proof of concept that the existing knowledgebase on regulatory networks and reference genomes can be effectively leveraged to mine meta-genomic data and reconstruct multi-species regulatory networks. This approach allows us to identify de novo the core elements of the human gut SOS meta-regulon, highlighting the relevance of error-prone polymerases in this stress response, and identifies putative novel SOS protein clusters involved in cell wall biogenesis, chromosome partitioning and restriction modification. The methodology implemented in this work can be applied to other metagenomic datasets and transcriptional systems, potentially providing the means to compare regulatory networks across metagenomes. The use of metagenomic data to analyze transcriptional regulatory networks provides a realistic snapshot of these systems in their natural context and allows probing at their extended composition in non-culturable organisms, yielding insights into their interconnection and into the overall structure of transcriptional systems in microbiomes.
The discovery of the nuclear factor TDP-43 involvement in neurodegenerative disease has increased significantly the general interest on the characteristics of this protein. The aberrant localization and aggregation of TDP-43 in affected tissues coupled with the tight auto regulation of TDP 43 cellular levels has suggested novel pathways for neurodegeneration. TDP 43 is predominantly a nuclear protein that shuttles between nucleus and cytoplasm. In disease neurons TDP 43 mislocalize to cytoplasmic inclusions with devastating consequences on neuronal survival. These cytoplasmic aggregation disrupts the TDP-43 control of its own cellular level. In fact autoregulation is mediated byan unusual splicing event in the 3’UTR of its pre mRNA for which is essentiial the presence of TDP 43 in the nucleus. In addition animal models and highthroughput assays have recently highlighted the role played by this protein in the regulation of hundreds of nuclear and cytoplasmic RNA transcripts, many of them belonging to key genes for neuronal metabolism. A model has been developed to study the determinants of the aggregation process and the impact of the latter on neuronal function. Animal models of the disease have been developed in different species mainly mice and flies.
More from Vall d'Hebron Institute of Research (VHIR) (20)
Struggling with intense fears that disrupt your life? At Renew Life Hypnosis, we offer specialized hypnosis to overcome fear. Phobias are exaggerated fears, often stemming from past traumas or learned behaviors. Hypnotherapy addresses these deep-seated fears by accessing the subconscious mind, helping you change your reactions to phobic triggers. Our expert therapists guide you into a state of deep relaxation, allowing you to transform your responses and reduce anxiety. Experience increased confidence and freedom from phobias with our personalized approach. Ready to live a fear-free life? Visit us at Renew Life Hypnosis..
R3 Stem Cells and Kidney Repair A New Horizon in Nephrology.pptxR3 Stem Cell
R3 Stem Cells and Kidney Repair: A New Horizon in Nephrology" explores groundbreaking advancements in the use of R3 stem cells for kidney disease treatment. This insightful piece delves into the potential of these cells to regenerate damaged kidney tissue, offering new hope for patients and reshaping the future of nephrology.
The dimensions of healthcare quality refer to various attributes or aspects that define the standard of healthcare services. These dimensions are used to evaluate, measure, and improve the quality of care provided to patients. A comprehensive understanding of these dimensions ensures that healthcare systems can address various aspects of patient care effectively and holistically. Dimensions of Healthcare Quality and Performance of care include the following; Appropriateness, Availability, Competence, Continuity, Effectiveness, Efficiency, Efficacy, Prevention, Respect and Care, Safety as well as Timeliness.
Welcome to Secret Tantric, London’s finest VIP Massage agency. Since we first opened our doors, we have provided the ultimate erotic massage experience to innumerable clients, each one searching for the very best sensual massage in London. We come by this reputation honestly with a dynamic team of the city’s most beautiful masseuses.
One of the most developed cities of India, the city of Chennai is the capital of Tamilnadu and many people from different parts of India come here to earn their bread and butter. Being a metropolitan, the city is filled with towering building and beaches but the sad part as with almost every Indian city
QA Paediatric dentistry department, Hospital Melaka 2020Azreen Aj
QA study - To improve the 6th monthly recall rate post-comprehensive dental treatment under general anaesthesia in paediatric dentistry department, Hospital Melaka
CRISPR-Cas9, a revolutionary gene-editing tool, holds immense potential to reshape medicine, agriculture, and our understanding of life. But like any powerful tool, it comes with ethical considerations.
Unveiling CRISPR: This naturally occurring bacterial defense system (crRNA & Cas9 protein) fights viruses. Scientists repurposed it for precise gene editing (correction, deletion, insertion) by targeting specific DNA sequences.
The Promise: CRISPR offers exciting possibilities:
Gene Therapy: Correcting genetic diseases like cystic fibrosis.
Agriculture: Engineering crops resistant to pests and harsh environments.
Research: Studying gene function to unlock new knowledge.
The Peril: Ethical concerns demand attention:
Off-target Effects: Unintended DNA edits can have unforeseen consequences.
Eugenics: Misusing CRISPR for designer babies raises social and ethical questions.
Equity: High costs could limit access to this potentially life-saving technology.
The Path Forward: Responsible development is crucial:
International Collaboration: Clear guidelines are needed for research and human trials.
Public Education: Open discussions ensure informed decisions about CRISPR.
Prioritize Safety and Ethics: Safety and ethical principles must be paramount.
CRISPR offers a powerful tool for a better future, but responsible development and addressing ethical concerns are essential. By prioritizing safety, fostering open dialogue, and ensuring equitable access, we can harness CRISPR's power for the benefit of all. (2998 characters)
1. IRDiRC: State of the Art
Paul Lasko, PhD
Canadian Institutes of Health Research
Chair, IRDiRC Executive Committee
1
2. Rare disease research in 2010
Large-scale global effort but there is substantial
fragmentation.
Huge variations among different countries as to
availability of diagnostics and therapeutics.
Breakthrough in genomic sequencing technology
that greatly lowers cost and makes feasible
diagnostic exome sequencing.
4. International Rare Disease
Research Consortium (IRDiRC)
Cooperation at international level
to stimulate, better coordinate and
maximize output of rare disease
research efforts around the world
4
5. IRDiRC – basic principles
Co-operation at international level
to stimulate, better coordinate &
maximise output of rare disease
research efforts around the world
Teams up public and private
organisations investing in rare
diseases research
Research funders with relevant
programmes >$10 million US
over a 5-year period can join &
work together
Each organisation funds
research its own way
Funded projects adhere to a
common framework
5
6. Goals of IRDiRC by 2020
200 new therapies
for rare diseases
Means to diagnose
most rare diseases
6
7. Current status of research
in the field of rare diseases
based on Orphanet data
7
8. 5707 ongoing research projects, covering 2129 diseases,
excluding clinical trials
European rare diseases research landscape (36 countries)
(February 2014)
513 Gene search
595 Mutations search
281 Gene expression profile
393 Genotype-phenotype correlation
1048 In vitro functional study
509 Animal model creation / study
748 Human physiopathology study
179 Pre-clinical gene therapy
90 Pre-clinical cell therapy
31 Pre-clinical vaccine development
452 Observational clinical study
224 Epidemiological study
295
Diagnostic tool / protocol
development
158 Biomarker development
25
Medical device / instrumentation
development
79 Health sociology study
15 Health economics study
72
Public health / health services
study
8
9. Possibility to diagnose Rare Diseases:
over 2 362 genes tested to date
Number of genes tested by country Number of rare diseases tested by country
(April 2014)
9
10. Number of genes tested in each
country in Europe by year
2010 2011
2012
2013
11. Medicinal products on the European market in 2013
67 orphan medicinal products
92 medicinal products without orphan
designation with at least an indication for a
rare disease or a group of rare disease
(January 2014)
12. Percentage of clinical trials by category
International rare diseases clinical trial
landscape
2476 ongoing national or international clinical trials
for 629 diseases in 29 countries
(April 2014) 12
1%
78%
1%
2%
16%
1% 1% cell therapy clinical trial
drug clinical trial
gene therapy clinical trial
medical device clinical trial
protocol clinical trial
vaccine clinical trial
other trial
14. Growth of IRDiRC
Third coordination meeting was held in Montreal (9-10
Oct 2011), sponsored by IG and Genome Canada.
Initially involved EU, NIH, Canada, Italy, Spain.
Funder members commit a minimum of USD 10M to rare
disease research over a 5-yr period.
Present commitment exceeds $1B worldwide.
Formally launched in 2012, first public symposium held in
Dublin in April 2013.
Second public symposium planned for Shenzhen, China,
November 7-9, 2014.
15. Instruments to reach the goals
Increase research volume
Boost cooperation between researchers
Speed up R&D
15
16. While the pace of gene discovery based on whole exome sequencing is increasing…
…it will need to triple for IRDiRC’s 2020 goal to be met!
Boycott et al. (2013)
Nature Reviews of Genetics
17. Boycott et al. (2013)
Nature Reviews of Genetics
(EMA approvals)
The rate of approvals for new orphan therapeutics is not yet increasing
18. Boycott et al. (2013)
Nature Reviews of Genetics
Many different technologies show promise for orphan disease treatment
19. Principles applying to research activities
19
Sharing and collaborative work in RD research
Sharing of data and resources
Rapid release of data
Interoperability and harmonization of data
Data in open access databases
Scientific standards, requirements and regulations in RD
research
Projects should adhere to IRDiRC standards
Develop ontologies and biomarkers
Cite use of databases and biobanks in publications
20. Principles applying to research activities
20
Participation by patients and / or their representatives in
research
Act in the best interest of patients
Involve patients in all aspects of research
Involve patients in governance of registries
Involve patients in the design, conduct and analysis of clinical
trials
Acknowledge patients’ contribution in articles
21. Principles applying to Funding Bodies
21
Promote the discovery of genes
Promote the development of therapies
Fund pre-clinical studies for proof of concept
Promote harmonization, interoperability, sharing, open access
to data
Promote coordination between human and animal models
Promote active exchanges between stakeholders through
dissemination of ongoing projects and events
22. Indicators of output
22
Research activity
No. of IRDiRC members / allocated budget
For diagnostics
No. of new causative genes discovered / No. of clinical
tests of diagnostics/ No. of diseases with available test / by
country and by region
For therapeutics
No. of designations / No. of clinical trials / Attrition rate /
No. of diseases covered/ Type of products
No. of disease registries / sources of clinical data
23. • Australia
– Western Australian Department of Health
• Canada
– Canadian Institutes for Health Research
– Genome Canada
• China
– Beijing Genomics Institute
– Chinese Rare Disease Research Consortium
• EU
– European Commission
• Finland
– Academy of Finland
• France
– French Association against Myopathies
– Agence National de la Recherche
– Lysogene
• Georgia
– Children’s New Hospital Management Group
• Germany
– Federal Ministry of Education and Research
• Italy
– Italian Higher Institute of Health
– Telethon Foundation
• International Consortium
– E-RARE 2 Consortium
• Netherlands
– The Netherlands Organization for Health Research
and Development
– Prosensa
• Republic of Korea
– Korean National Institute of Health
• Spain
– National Institute of Health Carlos III
• UK
– National Institute for Health Research
• USA
– Food and Drug Administration Orphan Products
Grants Program
– Isis Therapeutics
– National Human Genome Research Institute (NIH)
– National Center for Advancing Translational
Sciences (NIH)
– National Cancer Institute (NIH)
– National Eye Institute (NIH)
– National Institute of Neurological Disorders and
Stroke (NIH)
– National Institute of Arthritis and Musculoskeletal
and Skin Diseases (NIH)
– National Institute of Child Health and Human
Development (NIH)
– NKT Therapeutics
– Office of Rare Diseases (NIH)
– PTC Therapeutics
– Sanford Research Institute
• International Pharma Companies
– Genzyme (Sanofi)
– Shire
Present list of IRDiRC funder members
24. New members wanted
Members can be public or private sector entities, profit
or non-profit organizations.
Members must pledge a minimum of USD 10 million for
rare disease research over the next five years. This
money is not given to IRDiRC but is spent on internal
programs.
Members must agree to follow IRDiRC policies and
guidelines (available on www.irdirc.org).
Every member has one seat on the Executive Committee
and can nominate one member to one Scientific
Committee or Working Group.
26. Executive Committee: FUNDING AGENCIES
26
Paul Lasko (chair of IRDiRC)
•Canadian Institutes for Health Research
•Canada
Christopher Austin
•National Center for Advancing Translational Sciences (NIH)
•USA
Pedro Cortegoso Fernández
•National Institute of Health Carlos III
•Spain
Hugh Dawkins
•Western Australian Department of Health
•Australia
Ruxandra Draghia-Akli
•European Commission
•Europe
Stephen Katz
•National Institute of Arthritis and Musculoskeletal and Skin Diseases
(NIH)
•USA
Enrico Garaci
•Istituto Superiore de Sanita
•Italy
Nicolas Lévy
•French Foundation for Rare Diseases
•France
Pamela McInnes
•Office of Rare Diseases (NIH)
•USA
Pierre Meulien
•Genome Canada
•Canada
Lucia Monaco
•Telethon Foundation
•Italy
Katherine Needleman
•Office of Orphan Products Development (FDA)
•USA
27. Executive Committee: FUNDING AGENCIES
27
Marie-Christine Ouillade
•French Muscular Dystrophy Association
•France
Willem Ouwehand
•National Institute for Health Research
•UK
Melissa Parisi
•National Institute of Child Health and Human Development (NIH)
•USA
Hyun-Young Park
•Korea National Institute of Health
•Korea
Jeffery Schloss
•National Human Genome Research Institute (NIH)
•USA
Ralph Schuster
•Federal Ministry of Education and Research
•Germany
Bertrand Schwartz
•Agence Nationale de la Recherche
•France
Danilo Tagle
•National Institute of Neurological Disorders and Stroke (NIH)
•USA
Edward Trimble
•National Cancer Institute (NIH)
•USA
Santa Tumminia
•National Eye Institute (NIH)
•USA
Sonja van Weely
•The Netherlands Organisation for Health Research and Development
•Netherlands
Heikki Vilen
•Academy of Finland
•Finland
28. Executive Committee
28
INDUSTRY
Karen Aiach
•Lysogene
•France
Luc Dochez
•Prosensa
•Netherlands
Diane Goetz
•PTC Therapeutics
•USA
Carlo Incerti
•Genzyme
•USA
Robert Mashal
•NKT Therapeutics
•USA
Brett Monia
•Isis Pharmaceuticals
•USA
Philip Vickers
•Shire
•USA
Béatrice de Montleau
•European Organisation for Rare Diseases (EURORDIS)
•Europe
Peter Saltonstall
•National Organization for Rare Disorders (NORD)
•USA
Sharon Terry
•Genetic Alliance
•USA
PATIENT ORGANISATIONS
29. Executive Committee
29
Ning Li
•Beijing Genomics Institute (BGI)
•China
David Pearce
•Sanford Research
•USA
Qing K Wang
• Chinese Rare Disease Consortium
• China
Oleg Kvlividze
•Children’s New Hospitals Management Group
•Georgia
Daria Julkowska
•E-RARE 2 Consortium
•Europe
RESEARCH INSTITUTES
CONSORTIUM OF RESEARCH
INSTITUTES
HOSPITALS
CONSORTIUM OF FUNDING
BODIES
30. Diagnostics Scientific Committee (DSC)
30
Kym Boycott (chair)
•Children's Hospital Eastern Ontario
•Canada
Han Brunner
•Nijmegen University Hospital
•Netherlands
Michael Bamshad
•Seattle Children's Hospital
•USA
Johan Den Dunnen
•Center for Human and Clinical Genetics
•Netherlands
Xavier Estivill
•Genomic Regulation Centre
•Spain
Milan Macek
•Charles University Prague
•Czech Republic
Gert Matthijs
•University Hospital Leuven
•Belgium
Woong-Yang Park
•Samsung Genome Institute
•Korea
Peter Propping
•University of Bonn
•Germany
Pak-Chung Sham
•Chinese Rare Disease Research Consortium
•China
Jun Wang
•BGI
•China
31. Interdisciplinary Scientific Committee (ISC)
31
Hanns Lochmüller (chair)
•University Newcastle upon Tyne
•UK
Jamel Chelly
•National Institute of Health and Medical Research
•France
Angel Carracedo
•University of Santiago de Compostela
•Spain
Jack Goldblatt
•Genetic Services and the Familial Cancer Program of Western
Australia
Petra Kaufmann
•National Institute of Neurological Disorders and Stroke
•USA
Alastair Kent
•Genetic Alliance
•UK
Jeffrey Krischer
•University of South Florida
•USA
Bartha Maria Knoppers
•McGill University
•Canada
Samantha Parker
•Orphan Europe Recordati Group
•France
Rumen Stefanov
•Medical University of Plovdiv
•Bulgaria
Domenica Taruscio
•Italian National Centre for Rare Diseases
•Italy
32. Therapies Scientific Committee (TSC)
Yann Le Cam (chair)
•EURORDIS (France)
Gert-Jan Van Ommen
•Leiden University Medical Centre (Netherlands)
Giles Campion
•Prosensa Therapeutics (Netherlands)
Seng Cheng
•Rare Diseases Science Genzyme Corporation (USA)
Adam Heathfield
•Pfizer (UK)
Maria Mavris
•EURORDIS (France)
Fulvio Mavilio
•Genethon (France)
John McKew
•NIH (USA)
Elizabeth McNeil
•NIH (USA)
Luigi Naldini
•Telethon Institute (Italy)
Glen Nuckolls
•NIH (USA)
Asla Pitkänen
•University of Eastern Finland (Finland)
Karin Rademaker
•University Medical Centre (Netherlands)
Robert Schaub
•NKT Therapeutics (USA)
Josep Torrent i Farnell
•Spanish Medicines Agency (Spain)
Marc Walton
• FDA (USA)
Ellen Welsh
•PTC Therapeutics (USA)
Anne Zajicek
•NICHD (USA)
33. IRDiRC Scientific Secretariat
In place at Inserm US14, at the Rare Disease
Platform, Paris, France
FP7 contract for 6 years since October 2012: « Support
IRDiRC »
Management of the network / assistance
to Executive Committee, Scientific Committees and
Working Groups
Management of the website: http://www.irdirc.org/
33
37. Kym Boycott, PhD, MD, FRCPC, FCCMG
Clinical Geneticist, Department of Genetics
Investigator, Children’s Hospital of Eastern Ontario Research Institute
Associate Professor, Department of Pediatrics, University of Ottawa
1 Gene per Week
Translating Discoveries to the
Care of Patients with Rare
Diseases
38. FORGE Canada Consortium
Objectives
Rapidly identify genes for rare pediatric single-
gene disorders
2 years
April 2011 to March 2013
Total funding level ~$5M
Establish a sustainable national consortium
focused on rare disorders
39. FORGE Clinical Network
Dr. Gudrun Aubertin
Dr. Jan Friedman
Dr. Francois Bernier
Dr. Ordan Lehman
Dr. Bridget
Fernandez
Dr. Sarah Dyack
Dr. Edmond
Lemire
Dr. Albert
Chudley
Dr. Victoria Siu
Dr. Malgorzata Novaczyk
Dr. Linda Kim
Dr. Peter Kannu
Dr. David Chitayat
Dr. Rosanna Weksberg
Dr. Marjan Nezarati
Dr. Kym Boycott
Dr. Sandra Farrell
Dr. Jacques Michaud
Dr. Sebastian Levesque
Dr. Régen Drouin
Dr. Bruno Maranda
Toronto
Montreal
21 Sites
80 Physicians
50 Scientists
FORGE Clinical Network
41. One Gene per Week
110 disorders solved
April 2011 – March 2013
184
Disorders
60% solved
45% novel
5% mechanism
50% diagnosis
40% unsolved
1/3 no plausible
variants
2/3 too many
variants
42. The rule of 1/3
1/3 novel genes
1/3 diagnosis in known
disease gene
Atypical phenotypes
Conflation of 2 diseases
New mechanisms
1/3 need more work
43. 2014 ACTION PLAN: ADOPT AND PROMOTE
STANDARDS FOR INTEROPERABILITY / DATA
SHARING
43
44. Workshop on Terminologies for RD –
Paris, 12 September 2012
Many terminologies in use to
describe phenomes - No interoperability
Joint EuroGenTest and EUCERD workshop
Organized by Ségolène Aymé
Agreement to define a core set of terms
common to all terminologies and a
methodology
Core set identified by cross referencing
HPO
PhenoDB
Orphanet
UMLS: MeSH, MedDRA, SnoMed CT
LDDB
Elements of morphology
44
Adoption of a core set of >2,300 terms
common to all terminologies
Workshop of validation, Boston
21-22 October 2013
Workshop supported by HVP and
EuroGenTest
Organized by Ada Hamosh
Expert review of the initial proposal
Selection of 2,370 terms
Decision to propose them for adoption by all
terminologies
Establishment of the International
Consortium for Human Phenotype
Terminologies – ICHPT
Publication on the IRDiRC website with
definitions from
HPO
Elements of morphology
45. Standardization of Phenotype Ontologies
Workshop SYMPATHI, 19 Apr 2013, Dublin
Organized by IRDiRC, supported by the University of Dublin, FORGE and EuroGenTest
Conclusion: Adopt HPO & ORDO & cross-reference with OMIM
46. PhenoTips and
PhenomeCentral
Repository of data
Hub for data sharing
CareforRare,
RDConnect
NIH undiagnosed
patients
46
Adoption of a core set of >2,300 terms
common to all terminologies
ClinVar and ICCG
Public archive of
variants and assertions
about significance
NCBI resource
Decipher Database of
Chromosome
imbalances and
phenotypes
Using Ensembl
resources
Sanger Institute
Wellcome Trust
50. Genome-Phenome
Matchmaker
Two WGs to look at:
1)levels of data sharing
2)API to connect discoverable data – operational fall 2014
– Matchmaker 1.0
Matchmaker Pro – 2015-2016
A list of databases to use for data deposition and that can be
connected by Matchmaker needs to be developed and
made available on the IRDiRC website – mid 2014