Courses & Educational Initiatives
Synaptic metabolism and brain circuitries in IEM: exploring old and new disorders
Date: 16 – 18 November, 2017
Venue: Barcelona, Spain
Further information on the courses can be found at www.rrd-foundation.org
Courses & Educational Initiatives and Events
Events
Annual meeting International Association of National Public Health
Date: 22-25 October, 2017
Venue: Rome, Italy
For further information
Towards Transformative Therapies for Sickle Cell Disease
Date: 24 October, 2017
Venue: New York, United States
For further information
5th Annual International Erdheim-Chester Disease Medical Symposium
Date: 25-27 October, 2017
Venue: New York, United States
The ECD Medical Symposium is the only medical conference focused on uniting medical professionals from around the world to share scientific findings, patient outcomes and case studies, and new developments in Erdheim-Chester disease. The annual meeting facilitates collaboration among physicians specializing in different therapies interested in learning more about ECD. Abstracts for presentations are due August 1, 2017. Email Jessica Corkran at jessica.corkran@erdheim-chester.org for more information. For further information
5th Annual International Erdheim-Chester Disease Patient & Family Gathering
Date: 27 October, 2017
Venue: New York, United States
The ECD Patient & Family gathering is the only conference focused on uniting those affected by Erdheim-Chester Disease from around the world to increase their knowledge of ECD, learn how to advocate for themselves in a healthcare system often unaware of their illness, and promote fellowship among patients and caregivers. Please email questions to Jessica Corkran at Jessica.corkran@erdheim-chester.org. For further information
3rd Annual Congress on Rare Diseases and Orphan Drugs
Date: 30 October - 1 November, 2017
Venue: San Antonio, United States
For further information
5th Glycoproteinoses International Conference
Date: 1-4 November, 2017
Venue: Roma, Italia
For further information
1st European ATTR Amyloidosis Meeting for Patients and Doctors
Date: 2-3 November, 2017
Venue: Paris, France
For further information
International Primary Immunodeficiencies Congress 2017
Date: 8-10 November, 2017
Venue: Dubaï, United Arab Emirats
For further information
14th DIA Japan Annual Meeting
Date: 12-14 November, 2017
Venue: Tokyo Big Sight (Ariake), Japan
For further information
Orphan Drug Congress Europe
Date: 13-15 November, 2017
Venue: Barcelona, Spain
For further information
ELIXIR Innovation and SME Forum: Data Driven Innovation in Rare Diseases and Personalised Medicine
Date: 14-15 November, 2017
Venue: Paris, France
This ELIXIR Innovation event is focused on Rare Diseases and Personalised Medicine. Attendees will be immersed in a world of data-driven innovation, illustrated through talks by innovative companies and presentations of ELIXIR’s open data resources and services. With a mix of high-level keynote speakers and interactive sessions, this free event to will allow participants to discuss and interact with other companies and ELIXIR partners. To register: before the 8 November 2017
For further information
3rd Annual Boston Understand Your Genome® Conference
Date: 14 November, 2017
Venue: Massachusetts, United States
The Boston UYG is an interactive symposium in which approximately 75 leaders from the Boston business and academic communities will undergo whole-genome sequencing and explore their own genome as part of an all-day educational conference, and we invite you to join in on the exciting presentations, debates and comments from some of the most thought-provoking leaders in the field of sequencing, informatics and genomic medicine. For Further information
25th Fondation René Touraine Scientific Meeting 2017: Neuro-Immune Communication in the Skin
Date: 17 November, 2017
Venue: Paris, France
For further information
14th International Conference on Thalassaemia & Haemoglobinopathies and 16th TIF International Conference for Patients & Parents
Date: 17 - 19 November, 2017
Venue: Thessaloniki, Greece
For further information
Imaging in Neuromuscular Disease 2017
Date: 19-21 November, 2017
Venue: Berlin, Germany
For further information
DEBRA International Congress 2017
Date: 24 – 26 November, 2017
Venue: Wellington, New Zealand
The yearly DEBRA International Congress plays a crucial role in the push to one day see a cure for Epidermolysis Bullosa.For further information
5th international conference focussing on translational medicine in inherited neuromuscular diseases
Date: 27–29 November, 2017
Venue: Freiburg, Germany
The aim of this international conference is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients. For further information
5th international conference focussing on translational medicine in inherited neuromuscular diseases
Date: 6 December, 2017
Venue: Ninds, United States
This FOA encourages applications for exploratory clinical trials of investigational agents (drugs, biologics, surgical therapies or devices) that may contribute to the justification for and provide the data required for designing a future trial, for biomarker validation studies, or for proof of mechanism clinical studies. Diseases chosen for study should be based on the NINDS’ strategic plan and clinical research interests (www.ninds.nih.gov/funding/areas/index.htm). Successful applicants will be given access to the NeuroNEXT infrastructure. Following peer review, NINDS will prioritize and order trials that are given access to the NeuroNEXT infrastructure. The NeuroNEXT Clinical Coordinating Center (CCC) will work with the successful applicant to efficiently implement the proposed study. The NeuroNEXT Data Coordinating Center (DCC) will provide statistical and data management support. The NeuroNEXT clinical sites will provide recruitment/retention support as well as on-site implementation of the clinical protocol. For further information
Grants
Call ‘Preclinical Research in rare diseases: translational steps in large animals’ Development of experimental models and evaluation of therapeutic strategies
In the field of rare diseases, understanding the physiopathological mechanisms and moreover, the evaluation of innovative therapeutic strategies, rely for a large part on animal models, particularly rodents. The translational research represents a link between exploratory steps of proofs of principle to clinical application in human. In some cases, the use of larger animal models is necessary to confirm the relevance of a concept or to demonstrate the feasibility, the efficiency and the safety of a therapeutic approach in conditions that mimic as closely as possible the human situation. The call for proposals launched by the French Foundation for rare diseases aims to directly support intermediary key steps towards clinical development for patients.
To complete and submit an application form, please access the portal “Applicant portal”.
DEADLINE for pre-proposals: October 24, 2017 (5:00 pm)
Generic call for proposals 2018
The ANR is launching its generic call for proposals for the year 2018 (GENERIC CALL FOR PROPOSALS 2018). It is open to all scientific disciplines and all types of research, from the most fundamental projects to applied research conducted as part of a partnership with a company, especially SMEs and very small businesses.
A total of 36 research themes are presented in the framework of the nine societal challenges.
Three themes fall outside the challenge framework, supporting certain fundamental disciplines.
Eight research themes are cross-disciplinary challenges at the crossroads of several challenges (“Interchallenge” themes).
Every theme corresponds to a scientific evaluation committee (SEC).
For improved disciplinary and cross-disciplinary identification, commensurate with the challenges, the project leader will choose a research theme that corresponds to a scientific evaluation committee (SEC). Various SEC can be relevant to rare diseases research as they are part of the challenge “Life, Health and Well-Being”.
DEADLINE: October 26, 2017 at 1 pm (Paris time)
Clinical Observational (CO) Studies in Musculoskeletal, Rheumatic, and Skin Diseases (R01) (NIAMS, USA)
This Funding Opportunity Announcement (FOA) is to encourage Research Project Grant (R01) applications to pursue clinical observational (CO) studies to obtain data necessary for designing clinical trials for musculoskeletal, rheumatic, or skin diseases or conditions. Research data from observational cohort studies can enhance clinical trial design by providing essential information about disease symptoms, stages and timing of disease progression, comorbid conditions, availability of potential clinical trial participants, and outcomes that are important to patients. CO studies also can facilitate efforts to develop and/or validate objective biomarkers or subjective outcome measures for use in a future trial or trials. Applicants to this FOA are encouraged to propose studies that address significant obstacles or questions in the design of a clinical trial, such as determining the appropriate primary or secondary outcome measures, or identifying the stages of disease during which patients are most likely to respond to an intervention. Only observational studies will be supported by this FOA.
DEADLINE: November 1, 2017
Palliative Care Needs of Individuals with Rare Advanced Diseases and Their Family Caregivers - R01 (NIH, USA)
This funding opportunity announcement (FOA) seeks to expand knowledge and increase the evidence base for palliative care (PC) in advanced rare diseases, including rare cancers, and to improve physical and psychosocial well-being and quality of life among seriously ill individuals and their family caregivers.
Research projects submitted to this FOA should focus on palliative and end-of-life care for individuals with advanced, rare diseases and their family caregivers. Studies may consider changing needs that occur across time points and disease progression, as well as ways in which EOLPC and planning can adapt to meet these changing needs. Childhood cancers are not of interest for the purposes of this FOA.
DEADLINE: November 5, 2017
Call ‘NCL Research Award (50,000€)'
The NCL Foundation aims to help find a cure for the most prevalent form of childhood dementia caused by mutations in the CLN3 gene. This support an innovative pilot project at the Postdoctoral fellowship level. It is highly encouraging junior scientists, clinical researchers and medical fellows worldwide to submit projects that hold promise to help find and push forward therapies for CLN3 disease. They also highly encourage applicants that work in disease areas outside NCL, provided the proposed research is relevant to elucidate the role of CLN3 or find a cure for this disease. You can send your application via email to Research@ncl-foundation.com
Please, note that it is a 2-stage process. First of all, we need to receive your Letter of Intent before we accept your full application.
DEADLINE: November 30, 2017
Biological response modifier drugs for rare autoimmune diseases (NHS, UK)
The aim of the HTA Programme is to ensure that high-quality research information on the effectiveness, costs and broader impact of health technology is produced in the most efficient way for those who use, manage, provide care in or develop a policy for the NHS. Topics for research are identified and prioritised to meet the needs of the NHS. Health technology assessment forms a substantial portfolio of work within the National Institute for Health Research and each year about fifty new studies are commissioned to help answer questions of direct importance to the NHS. The studies include both primary research and evidence synthesis.
Research Question: What is the clinical effectiveness of biological response modifiers used for a range of rare autoimmune diseases and are they cost effective?
DEADLINE: November 30, 2017
NeuroNEXT Clinical Trials -U01 (NINDS, USA)
This FOA encourages applications for exploratory clinical trials of investigational agents (drugs, biologics, surgical therapies or devices) that may contribute to the justification for and provide the data required for designing a future trial, for biomarker validation studies, or for proof of mechanism clinical studies. Diseases chosen for study should be based on the NINDS’ strategic plan and clinical research interests (www.ninds.nih.gov/funding/areas/index.htm). Successful applicants will be given access to the NeuroNEXT infrastructure. Following peer review, NINDS will prioritize and order trials that are given access to the NeuroNEXT infrastructure. The NeuroNEXT Clinical Coordinating Center (CCC) will work with the successful applicant to efficiently implement the proposed study. The NeuroNEXT Data Coordinating Center (DCC) will provide statistical and data management support. The NeuroNEXT clinical sites will provide recruitment/retention support as well as on-site implementation of the clinical protocol.
Applicants do not need to be part of the existing NeuroNEXT infrastructure.
DEADLINES: December 6, 2017
Project Grant: Spring 2018 (CIHR, Canada)
The Project Grant program is designed to capture ideas with the greatest potential to advance health-related fundamental or applied knowledge, health research, healthcare, health systems, and/or health outcomes. It supports projects with a specific purpose and a defined endpoint. The best ideas may stem from new, incremental, innovative, and/or high-risk lines of inquiry or knowledge translation approaches.
The Project Grant program will:
– support a diverse portfolio of health-related research and knowledge translation projects at any stage, from discovery to application, including commercialization;
– promote relevant collaborations across disciplines, professions, and sectors; and,
– contribute to the creation and use of health-related knowledge.
DEADLINES for the letter of intent: February 6, 2018 and March 6, 2018 for application
Clinical studies of safety and effectiveness of orphan products research project grant (FDA, USA)
The goal of FDA’s OOPD grant program is to support the clinical development of products for use in rare diseases or conditions where no current therapy exists or where the product being developed will be superior to the existing therapy. FDA provides grants for clinical studies on safety and/or effectiveness that will either result in or substantially contribute to, market approval of these products. Applicants must include in the application’s Background and Significance section documentation to support the assertion that the orphan disease or condition to be studied is a “rare disease or condition” and an explanation of how the proposed study will either help support product approval or provide essential data needed for product development.
The grants are available to any foreign or domestic, public or private, for-profit or nonprofit entity (including State and local units of government). Federal agencies that are not part of the Department of Health and Human Services (HHS) may apply. Agencies that are part of HHS may not apply. For-profit entities must commit to excluding fees or profit in their request for support to receive grant awards. Organizations that engage in lobbying activities are not eligible to receive grant awards.
DEADLINE: February 7, 2018
Call ‘Neurodegeneration Award 2018'
The NCL Foundation is pleased to offer a new advancement training program. Thanks to great support from the Joachim Herz Stiftung they are able to announce another grant (100.000€). The so-called Neurodegeneration Award 2018 covers a postdoctoral fellowship salary for two years. The aim is to foster and improve synergies in research on the CLN3 childhood dementia and age-related neurodegeneration. Therefore, applicants must meet the following requirements:
- Two collaborating partners must co-apply for the fellowship
- One partner must actively engage in CLN3 research
- The second partner must be engaged in research on age-related neurodegeneration
Ideally, postdoctoral candidates should conduct a considerable part of their work in both laboratories. Laboratories interested in applying should first send a brief Letter of Intent. After acceptance, you will be asked to send in a full proposal. Whether you need help to find a collaborating partner do not hesitate to contact us.
You can send your application via email to Research@ncl-foundation.com
DEADLINE: February 28, 2018
Media
Genetic Test, Risk Prediction, and Counseling
A chapter part of the Advances in Experimental Medicine and Biology book series discusses the challenges and perspectives of genetic testing. The chapter describes evidence of future genetic testing and possible risk prediction for more precise treatments. The chapter is from the Translational Informatics in Smart Healthcare book.
Experimental drugs and orphans: who has the right to treatment? We explain the Early Access Programs
Orphanet Italy has recently mentioned the publication of the ‘Early Access Programs’ guide from The Observatory of Orphan Drugs (OSSFOR) on its website. OSSFOR handbook is designed to facilitate and accelerate an easy access to treatment and care for rare disease patients. The handbook includes programs and regulations that aim to protect rare disease patients by encouraging an open confrontation between institutions and key stakeholders, and help them in their quest for treatments. OSSFORs' goal is to fill the gap of knowledge with the support of companies engaged in research and development of orphan drugs.