This book is meant as a good reference of medical dysmorphology literature of good references for the non-specialist, the pediatrician, or the trainee. It is organised by organ system with two to three pages devoted to a given physical feature. Written in a conversational style, the author gives concise discussions with multiple teaching points on each specific dysmorphic feature.
The foundation is proving several grants such as Innovator Awards, Established Innovator Award, and Specialty Award. Details are provided on their website
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
If you are a researcher investigating on Down syndrome and other intellectual disability from genetic origin appearing in early childhood, the Scientific Advisory Board of the Jerome Lejeune Foundation invites you to submit your research project aiming at deciphering the pathophysiology of the cognitive deficits of patients, especially those (up to 50% of the total amount of the global grant) with trisomy 21 (Down syndrome) and linked pathologies as well as knowledge of the chromosome 21. Deadline: 6 March 2017.
European Cytogenetesists Association
Date: February/March of each year
Venue: Nimes, France
This course is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. For further information
Building rare communities workshop
Date: 4 February, 2017
Venue: Birmingham, United Kingdom
The Building Rare Communities project empowers patient support groups to be a reliable and sustainable source of information and support. They will also empower you to develop the organisation to meet your patients’ needs. Genetic Alliance UK is running a one day workshop which will take place in Birmingham. For further information
European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
Date: March, 2017
Venue: Nimes, France
For further information
An Online Educational Resource for Limb Girdle Muscle Weakness
Limb girdle muscle weakness (LGMW) can result from multiple causes. Early and accurate diagnosis is critical to optimal disease management. The diagnosis can involve clinical, electromyogram, and genetic findings. Patient specific multidisciplinary management plans, including genetic counseling, should be developed. Currently, there are drugs available for some conditions. Many providers lack the skills to provide optimal care due to the heterogeneous presentation, complex diagnosis, and rarity of LGMW disorders. For further information
ExPRESS 2017 Expert Patient and Researcher EURORDIS Summer School
Date: June 5-9, 2017
Venue: Barcelona, Spain
The programme allows patients and researchers to sharpen their advocacy skills and gain an understanding of the regulatory process of orphan medicinal products so that they are able to advocate at a European level. The programme has online and face-to-face components. The face-to-face portion trains 40 expert patients annually as part of an intensive 4.5 day course held in Barcelona, Spain. For further information
Recordati Rare Diseases Foundation
The foundation develops and delivers tailored solutions in training and education, for healthcare professionals, to promote accurate diagnosis of rare diseases and care of patients. The following are the courses provided in 2017:
Transplantation in inherited metabolic disease
Date: 8 – 10 June 2017
Venue: Lille, France,
10th European metabolic course
Date: 10-14 October 2017
Venue: Heidelberg, Germany
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
2nd Advanced Lecture Course on Computational Systems Biology
Date: March 19-25, 2017
Venue: Aussois ski resort, France
The main Course emphasis is methodological illustrating the wealth and diversity of Systems Biology issues for scientists from Computer Science, Mathematics and Physics as well as to allow biologists motivated by Systems Biology to go deeper into methodological issues in order to facilitate their contacts with scientists from the formal sciences. Participants are strongly encouraged to submit an abstract of their current work to be presented as a poster in order to facilitate scientific interactions. Eight abstracts will be selected for short talks by the Scientific Committee. Student fellowships are also available and will be awarded to cover registration fees on the basis of the submitted abstract. (https://project.inria.fr/compsysbio2017/program/).
5th Rare Diseases Summer School
Date: June 7-9, 2017
Venue: Zurich, Switzerland
The summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants. A high faculty to student ratio will allow participants to optimally benefit from the varied expertise of the faculty. There will be ample time for discussions, teamwork, as well as for socializing. For further information
20th Summer School
Date: June 15-23, 2017
Venue: Paris, France
For further information
From Genomics to Therapy
Date: 5-7 February, 2017
Venue: Barcelona, Spain
Human Genome Meeting (HGM) is the key annual conference organised by the Human Genome Organisation (HUGO). Initially structured as a dedicated meeting for Human Genome Mapping, the HGM has evolved into a major scientific conference for human genetics & genomics, genomic medicine, and genomic biology. The HGM is also an excellent platform for industry partners and bio-technology companies as well as pharmaceutical giants. For further information
Patients as Partners EU
Date: 6-7 February 2017
Venue: London, United Kingdom
Patients as Partners EU is co-produced with patients, industry, academia, government and nonprofit organizations to establish a well-rounded program that addresses the needs of all stakeholders seeking to implement and advance patient involvement across the
European policy response to rare cancers: the case of sarcoma
Date: 8 February 2017
Venue: London, United Kingdom
3rd International Rare Disease Research conference
Date: 8-9 February 2017
Venue: Paris, France
All stakeholders – active investigators, policy makers, opinion leaders, critical thinkers, young researchers and patient advocates alike – active in the area of rare diseases from across the globe are invited to join us to celebrate achievements in the field, identify future milestones and goals, and work toward bringing diagnoses and therapies to all rare disease patients. For further information
2017 Rare Disease Day Symposium Alagille Syndrome — New Research, New Hope
Date: 24 February 2017
Venue: La Jolla, United States
The 2017 SBP Rare Disease Day Symposium will focus on Alagille Syndrome, with emphasis on the areas of biliary paucity, genetic mechanism, Notch signaling, and biliary development/regeneration. Scientists, clinicians, advocates, patients and their families are invited to join experts in the ALGS field to foster new perspectives, ideas, and collaborations and accelerate efforts toward a cure for this syndrome. For further information
7th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
Date: 24-25 February 2017
Venue: Milan, Italy
This meeting will highlight that rare diseases represent an important field of medicine not only for pulmonologists who are skilled in diagnosing and treating particular groups of these illnesses but for all respiratory physicians. For further information
BPSU - Rare Disease Conference 2017: From bench to bedside - new treatments for children with rare disease
Date: 27 February 2017
Venue: Birmingham, United Kingdom
The conference will will allow cutting edge scientific data to be presented from world leading clinicians, scientists, policy-makers and patient groups. For further information
The Right to Health: The Rare Disease Perspective
Date: 28 February, 2017
Venue: Geneva, Switzerland
The is a Rare Diseases International Policy Event event which will gather international experts in the fields of public health, human rights, epidemiology, scientific research and patient advocacy to discuss why and how rare diseases should be included in the global health agenda. For further information
Findacure Scientific Conference on Drug Repurposing for Rare Diseases
Date: 28 February, 2017
Venue: London, United Kingdom
This day long event seeks to create a forum that brings together patient groups, clinicians, researchers, biotech companies, and the pharmaceutical industry to discuss the role that drug repurposing can play in the future of rare disease treatment. For further information
Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy (C2)
Date: 5-8 March, 2017
Venue: Massachusetts, United States of America
Through this meeting, participants should become familiar with rare and undiagnosed disease programs, acquire insights into new disease mechanisms, learn about potential therapeutic targets, and establish collaborations that enhance rare disorder expertise and new disease discovery. The meeting will bring together physicians who are expert in rare disorders with scientists who know metabolic pathways and mechanisms, advancing understanding and therapy. For further information
5th Annual Paediatric Oncology Conference
Date: 2-3 March, 2017
Venue: Brussels, Belguim
The conference is part of a unique multi-stakeholder joint initiative, the ACCELERATE multi-stakeholder Platform. Co-organised by CDDF, ITCC and SIOPE, this platform provides a transparent forum enabling patients and parents’ organisations, academic paediatric oncologists and haematologists, pharmaceutical companies and EU regulatory network representatives to collaborate and jointly address specific obstacles to a faster and more effective treatments for children and adolescents with cancer, including the needed changes to the Paediatric Medicines Regulation. For further information
Paediatric Clinical Trials
Date: 20-21 March, 2017
Venue: London, United Kingdom
This conference will discuss current clinical trials, implementation and paediatric drug development in a series of interactive conference sessions, roundtables and workshops led by leading industry experts. For further information
4th edition of ITOC (Immunotherapy of Cancer Conference)
Date: 20-22 March, 2017
Venue: Prague, Czech Republic
It aims at providing a forum for all professionals working in immunotherapy to discuss early clinical drug development and address the unique challenges of translational research. The programme will focus on the latest challenges and innovations with a special emphasis on combination therapy, immuno-monitoring and biomarker development. For further information
15th WFH International Musculoskeletal Congress
Date: 5-7 May, 2017<br>
Venue: Seoul, South Korea<br><br>
The Congress program will feature presentations, posters, and exhibit displays with a focus on musculoskeletal approaches to hemophilia. Key developments in the field will be addressed, making the event relevant to orthopedists and physical therapists around the world. For further information
Advances in transgenic animal models and techniques
Date: 11-12 May, 2017
Venue: Nantes, France
The meeting will give the opportunity to update information on techniques and models in transgenesis and genetic engineering.It is intended for Master, PhD and medical students with a background in molecular biology and genetics as an introduction to future work in these rapidly developing areas of research. For further information
4th International Clinical Trials Methodology Conference
Date: 7-10 May, 2017
Venue: Liverpool, United Kingdom
This event promises to be a unique opportunity for those working in clinical trials to collaborate at a world leading conference venue to discuss the issues pertinent in trials today. For further information
11th European Cytogenetics Conference 2017
Date: 1-4 July 2017
Venue: Florence, Italy
3rd World Conference on Congenital Disorders of Glycosylation
Date: 15 - 16 July 2017
Venue: Leuven; Belgium
The "World Conference on Congenital Disorders of Glycosylation (WCCDG) for Families and Professionals” is a biennial event fruitfully designed in collaboration with leading experts in the field of CDG: families and professionals work together to exchange knowledge, experiences, needs and perspectives. For further information
10th ISNS‐Asia Pacific Regional Neonatal Screening Meeting
Date: 24‐26 August, 2017<br>
Venue: Ulaanbataar, Mongolia<br><br>
This meeting brings together (para)medical professionals concerned with the neonatal screening for congenital (metabolic) conditions and will discuss the latest development concerning screening methodology, diagnostics and treatment. For further information
The 6th World Congress of Clinical Safety
Date: 6 – 8, September 2017
Place:Rome, Italy
The congress covers a wide range of safety topics, such as clinical safety (patient safety, medication safety, medical device safety), infectious disease outbreak, disaster healthcare, clinical crisis governance, environmental health & safety, food safety, and other related safety subjects. For further information
International Ataxia Research Conference IARC
Date: 27-30 September, 2017
Venue: Pisa, Italy
GoFAR, FARA and Ataxia UK in collaboration host what will be the second edition IARC where the latest research on 'Friedreich's ataxia will be presented and discussed. SCA and other progressive ataxias will also be presented and discussed. Plenary sessions will include the progress in the field of gene therapy, animal and cellular models, approaches pharmacologists and their development and clinical research. For further information