Rare Disorders meetings & conferences

World Rett Syndrome Congress 2012

June 22-26, 2012 New Orleans, Lousiana

The aim of this congress is to help chart the course forward to reverse Rett syndrome while seeking to improve the quality of care for those affected by this disorder. Led by pioneering experts in Rett syndrome and related disorders, all professionals including researchers, clinicians, allied health practitioners, educators, parents, family members and caregivers will benefit from the meaningful series of sessions and tracks.

Who Should Attend

Investigators
Post Docs and Graduate Students
Academic and research institutions
Pharmaceutical companies
Biotech companies
Government agencies
Non-Profit organizations
Doctors and Clinicians
Educators
Parents and Caregivers
Equipment and technology providers

First International Congress--Narrative Medicine and Rare Diseases

The First International Congress "Narrative medicine and rare diseases" will be held on 4 June 2012, at the Italian National Institute of Health (Aula Pocchiari, Viale Regina Elena 299, Rome, Italy). The Congress aims (i) to promote narrative medicine applied to rare diseases among health practitioners and patients, (ii) to stimulate new theoretical approaches and practical applications, at international level.

The Italian National Centre for Rare Diseases of the Italian National Institute of Health has organised the Italian national
congress "Narrative medicine and rare diseases" annually since 2009.

Rare diseases, defined by their low prevalence, can be acute, severe, chronic and disabling conditions. They may be difficult
to diagnose and with few specific therapeutic treatments.

Narrative medicine aims to build a bridge between the clinical knowledge of health care practitioners and the patient’s subjective experience.

This year, the Italian National Centre for Rare Diseases of the Italian National Institute of Health is organising the First International Congress "Narrative medicine and rare diseases".

The official language will be English (simultaneous translation service English/Italian will be available).
Travel and accommodation expenses will be born by the participants.

For additional information, clarifications, or questions, please contact the Scientific Secretariat, at medicina.narrativa@iss.it.  

Istituto Superiore di Sanità
Via Giano della Bella, 34
00161 - Roma (I)
Phone: 06 4990 4017
Fax: 06 4990 4370
taruscio@iss.it

Shank Regulation and Its Role in Disease

July 25-26, 2012 8:30 am - 5:30 pm Orlando, Florida

Scientific Symposium at the 2012 Phelan-McDermid Syndrome Int'l Family Conference & Scientific Symposium

Alzheimer's, schizophrenia, autism, and Phelan-McDermid Syndrome...what do these disorders have in common? What might disease-related findings tell us about the role of the Shank complex in disorders of the synapse? What are the molecular mechanisms, underlying these disorders of the synapse? Could potential therapeutic approaches have applications across all of these disorders of the synapse? Join us for what will surely be lively and thought-provoking sessions addressing these questions and more. The symposium will be a fertile field for innovation, cross-disease collaboration, and building of partnerships. We look forward to the participation of patient advocates, investigators, decision-makers and industry.

Contact Information: Vicki@pmsf.org
 

24th Annual Fanconi Anemia Research Fund Scientific Symposium

September 27 – 30, 2012 Denver, Colorado

Session topics may include:

Bone marrow failure and transplantation
Gene therapy and stem cell expansion
Functions of FA proteins
Role of environmental and endogenous mutagens
Small molecule development and therapeutics
Other experimental therapies
Squamous cell carcinoma and HPV
Other cancers in FA
Molecular pathogenesis and control of hematopoietic and epithelial neoplasms
Pathophysiology and treatment of endocrinopathies

8th International 22q11.2 Deletion Conference

July 6-10, 2012 Orlando, Florida

Detection * Care * Cure – The Magic of Making a Difference

The Conference will be held at Disney’s Yacht and Beach Club Resorts in Lake Buena Vista, Florida, USA from Friday, July 6 th 2012 through Tuesday, July 10th 2012.

The Biennial 22q11.2 Deletion Syndrome Meeting is considered by many to be the foremost meeting of the world 22q11.2 deletion syndrome community and occurs every two years. The first Conference was held in 1998 in Strasbourg, France and subsequent venues have included Philadelphia, PA, USA; Rome, Italy; Atlanta, GA, USA; Marseilles, France; Utrecht, the Netherlands; and most recently Coventry, England. Thus, this meeting is now returning to North America for the first time since 2004 leading to an anticipated attendance of record setting numbers including delegates from more than 20 countries around the world.

This Conference is designed not only for “professionals” but for families (parents, grandparents, etc.) and children and adults with the 22q Deletion. Many who have attended in the past have found it to be one of the best experiences they could have in terms of learning more about available treatment, educational strategies and so much more. But perhaps the most important benefit for families is the pure social and bonding experience of getting to know other families who have had similar experiences and building a network for the future to help one another. This is one of the key long term objectives of the lead sponsor, The International 22q11.2 Foundation.

By 2012 the impact of the work being conducted in multiple medical and educational areas will make attendance at the 8th Biennial 22q Meeting essential for researchers, health care providers, counselors, speech and language pathologists, therapists, educators and families alike. As collaborative science increasingly crosses geographic boundaries, and the variability associated with the diagnosis is better understood, the interaction among scientists, clinicians and families becomes more vital and vibrant. In 2012, no doubt this meeting will be the major focal point and platform for the world’s most exciting research and patient focused care.

The conference includes invited presentations from leading international clinicians and researchers, as well as, selected papers from submitted abstracts, and other sessions focusing on the most important and recent developments associated with the 22q11.2 deletion syndrome. A full Social Program is also planned.

2012 International Glycoprotein Storage Disease Conference

The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is proud to announce The 2012 International Conference for Glycoprotein Storage Diseases.

The Scientific/Family conference will be 28th – 29th July. The scientific and family meetings will be running concurrently.

Natural History Clinic days are Friday July 27th and Monday July 30th

The Conference will take place in Charleston, South Carolina at the Crowne Plaza Hotel

Alongside this meeting we will be hosting the extension of the Natural History Study (see dates above). These clinics will be held in Dr Cathey's Charleston Office.

ISMRD's primary mission has always been two-fold: to support families throughout the world affected by a Glycoprotein & Related Storage Disease, and to promote opportunities to further scientific and clinical understanding of the underlying mechanisms resulting in these diseases. In our view, the ultra-orphan nature of these disorders requires a synergy between both aspects of this mission if therapies and treatments are ever to occur.

For any enquiries, please email info@ismrd.org.

Barth Syndrome 6th International Scientific, Medical & Family Conference

June 25th through June 30th, 2012 St. Pete Beach, Florida

13th International Fragile X Conference

July 25-29, 2012 Miami, Florida

The National Fragile X Foundation’s biennial international conference is highly regarded and well-known for bringing together families, researchers, doctors, therapists and educators in a setting that is specifically designed to optimize interaction among families and professionals. Increased collaboration between researchers, improved treatment skills of professionals, optimized development of individuals affected by Fragile X and increased understanding and well-being of those impacted by the disorders are the most significant outcomes often sited by previous conference attendees.

The first International Fragile X Conference was a two day event in 1987 held in Denver Colorado with about 150 attendees. Since then it has passed through cities including Albuquerque, Portland, Asheville, Los Angeles, Chicago, Washington DC, Atlanta and Detroit with growing attendance numbers. 2012 will bring the 13th International Fragile X Conference to Miami, FL where we expect over 1,000 attendees.

We present a unique opportunity where researchers and parents can interact throughout the conference. Many a researcher have commented on the experience of socializing with the parents of children with Fragile X, and how the experience has motivated them or reinvigorated their enthusiasm to make a difference in the lives of persons with this disability. The majority of the conference sessions are “Family-Friendly” and cover all three Fragile X conditions (FXS, FXTAS, FXPOI), with the greatest number of sessions focusing on FXS. In addition to the family-friendly sessions there are many scientific and technical sessions. Some of the benefits from attending include:

Discover the latest research by some of the world’s leading Fragile X experts.
Learn new techniques, behavioral interventions and coping strategies.
Connect with researchers clinicians, educators, psychologists and parents.
Get the support you need.
Start a new lifelong friendship and reconnect with old friends.

The objectives of the conference are:

To provide a forum in which professionals from the Fragile X and intellectual disabilities fields can present their scientific, clinical or scholarly work;
To present a general program that will be informative and of interest to all conference participants;
To facilitate the exchange of research, intervention strategies and information relating to all Fragile X-associated Disorders (FXD) including fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).

Presentation topics will include medical treatments, speech, language and occupational therapies, educational techniques, opportunities for self-determination and independence, genetic counseling strategies and mental health interventions throughout the lifespan.

Based on the ongoing development of new therapies, the conference will include a focus on:

Both pharmacological and non-pharmacological interventions (current and anticipated)
Evaluation tools
Evolving screening and diagnostic technologies

The conference will also highlight basic science presentations on:

The functions of FMRP
The molecular and cellular mechanisms in FXS, FXTAS, and FXPOI
Studies in animal models of FXD

The conference will include a wide variety of other subjects including:

Alternative interventions
Public policy and legislative advocacy
Legal and ethical issues
Sibling issues
Parent to parent support

In addition to presentations from the professional community, parent-led workshops and discussions will also be conducted.

Abstract Topics include:

Academic and Behavioral Interventions and Strategies
ADHD & Disorders of Attention and Impulse Control
Adult Issues and Aging in FXS
Advocacy, Policy Issues: Public and Private Partnerships
Assistive & Augmentative Technology/Computer Enhanced Learning
Autism and FX Studies/Issues/Diagnosis
Clinical Trials of Targeted Treatments
Early Intervention: 0-5 years
Family Dynamics
Financial Planning/Insurance/Grants
FMRP & Molecular/Cellular Studies/Animal Models
FXPOI Clinical Issues
FXTAS: Neuropathology/Non-CNS pathology
FXTAS Caregiving and Clinical Issues
FXTAS/FXPOI Molecular and Cellular Research/Animal Models
Genetic Counseling Issues
Inclusion/Mainstreaming
Molecular Clinical Correlations
Neuroimaging Studies
Neurological and Medical Issues in the Premutation
Neurological and Medical Issues in FXS
Non-traditional Interventions
Occupational Therapy/Sensory Integration
Psychological Therapies and Non-pharmacological Treatment (Behavioral, Cognitive Treatment Trials, etc)
Psychotherapeutic Interventions
Premutation Carrier Studies/Issues and Premutation Clinical Involvement (non-FXTAS)
Prevalence, Screening, Early Diagnosis Strategies & New Testing Technologies
Psychological, Behavioral and Social Studies and Testing in FXS
Psychopharmacologic Treatment of Behavior and Co-morbid Conditions in FXS
Reproductive Options
Self Help Skills: Dental, Eating, Toileting, Other
Service Delivery: Clinic & Non-Clinic based/Rural Outreach/Underserved Populations
Sexuality: Lifespan issues
Special/Unusual/Challenging Cases and Families (lessons learned from these cases)
Speech & Language Studies/Intervention
Targeted Molecular/Cellular Interventions in FXS Models
Treatment Efficacy: Biomarkers/Translational Outcome Measures in FXS
Transitions throughout the Lifespan

8th World Stroke Congress

October 10-13, 2012 Brasilia, Brazil

The 8th World Stroke Congress will be held in Brasilia October 10 to 13, 2012. This is the first time that the World Stroke Congress is held in Latin America.

The scope of the World Stroke Congress is broader than other international stroke conferences: besides first class presentations on research findings, overviews of current state of the art, lectures of excellence, and teaching courses there will also be a strong focus on parts of the chain of care like primary prevention, organization of services and rehabilitation. Global issues will be much addressed including global burden of stroke, specific features of stroke in low to middle income countries and priority settings when resources are low. A substantial part of the programme will focus on nursing and multidisciplinary networking. Another substantial part is directed to stroke support organizations.

Possible Topics

1. Acute Stroke Management
2. Acute Reperfusion Treatment
3. Acute Stroke: new treatments concepts
4. Acute Neuroimaging
5. Neurocritical Management
6. Hemorrhage – Intraparenchymal
7. Aneurysm and Vascular Malformations
8. Venous diseases
9. TIA and minor Stroke
10. Cerebrovascular Occlusive Disease
11. Heart and Brain
12. Infections Diseases and Stroke
13. Vascular Cognitive Impairment/ Vascular Dementia
14. Uncommon Stroke Disorders
15. Experimental and Translational Neuroscience
16. Genetics
17. Epidemiology of stroke
18. Pediatric Stroke
19. Preventive Stroke Strategies
20. Diagnosis
21. Large Clinical Trials
22. On-going Clinical Trials
23. Outcomes and Quality of Care
24. Stroke Care Systems
25. Multidisciplinary Clinical Rehabilitation
26. Public Awareness/Advocacy
27. Nursing

World Stroke Congress Secretariat
1-3 Rue de Chantepoulet
PO Box 1726
CH-1211 Geneva 1
Switzerland
Tel: + 41 22 908 0488
Fax: + 41 22 906 9140
E-mail: stroke2012@kenes.com

2012 American College of Medical Genetics Annual Clinical Genetics Meeting

March 27-31, 2012 Charlotte, North Carolina

Make plans now to attend the 2012 ACMG Annual Clinical Genetics Meeting to be held March 27-31 in Charlotte, North Carolina. The ACMG meeting is the educational and networking event for medical and clinical geneticists, genetic counselors, pediatric and obstetric practitioners who are providing comprehensive diagnostic, management and counseling services for patients with, or at risk for, genetically influenced health problems; laboratory directors and technicians conducting genetic testing; researchers involved in the discovery of genetic disorders and treatments; and all healthcare and public health professionals with an interest in the rapidly evolving field of medical genetics and its integration into healthcare.

Topics include:

Biochemical Genetics
Perinatal Genetics
Clinical Genetics
Genetic Counseling
Cytogenetics
Education/Public Health/Legal & Ethical Issues
Molecular Genetics

Contact Us

General Meeting Questions, Registration
Tel: (703) 921-0333
Email: acmgmeeting@acmg.net