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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Spinal muscular atrophy with respiratory distress 1


Other Names for this Disease

  • DSMA1
  • HMN VI
  • HMN6
  • Neuronopathy, distal hereditary motor, type VI
  • Neuronopathy, severe infantile axonal, with respiratory failure
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Conferences


ORDR-Sponsored Conferences

  • The Spectrum of Caregiving and Palliative Care in Rare Diseases, Winter 2014
    Location: NIH Natcher Conference Center, Bethesda, MD
    Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.

  • Economic Considerations in the Development of Therapies for Neuromuscular Disease, Sunday, September 21, 2014 - Tuesday, September 23, 2014
    Location: Beaver Hollow Conference Center, Java Center, NY
    Description: <p>The goals of the conference are:<span>&nbsp; </span>1.) To provide an informal environment away from competing activities for the interaction/ development of collaborations among established investigators and between senior and new/junior investigators, and to present a collaborative environment for new project development among investigators.<span>&nbsp; </span>2.) To offer senior investigators opportunities to determine the appropriateness of sites/investigators to participate in new trials, providing an entry point for junior trainees/investigators to become involved in studies.<span>&nbsp; </span>3.) To provide an opportunity for industry representatives to interact with clinical investigators to discuss collaboration.<span>&nbsp; </span>These discussions will increase investigator involvement with new industry therapeutics.</p>

  • 18th Annual International Spinal Muscular Atrophy Research Group Meeting, Thursday, June 12, 2014 - Saturday, June 14, 2014
    Location: Gaylord National , National Harbor, MD
    Description: <p>The overall goal of the meeting is to provide a venue for researchers to share unpublished data and to develop collaborations, with the intent of accelerating the discovery of a treatment for this devastating disease.<span>&nbsp; </span>In addition, the specific aims for the conference are:<span>&nbsp; </span>1.To enable open communication of early, unpublished scientific data, accelerating the pace of research. 2.To provide a forum to discuss timely topics in SMA openly with the entire research community. 3. To create a sense of community among SMA researchers, resulting in productive research partnerships.</p>

  • Novel Molecular Mechanisms of Neuromuscular Disease: Implications for Therapy, Monday, September 16, 2013 - Wednesday, September 18, 2013
    Location: Oxford, England
    Description: This conference will bring new collaborative opportunities and substantive scientific information to neuromuscular investigators. It will provide senior investigators, NIH program staff, and patient advocacy group/foundation representatives opportunities to meet with junior/trainee investigators who are in the process of developing careers in clinical/translational investigation. Trainees will interact with leaders in the field as they discuss innovative methodology designed to meet the challenges of studies of uncommon diseases and provide perspective on clinical studies in various phases of development. Younger investigators will be profiled during a hot topics session. Furthermore, the poster sessions, the discussions after each session, the meals and other informal settings offer them a chance to question and to present their own ideas.

  • RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
    Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
    Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

  • Translational Neuromuscular Research, Diverse Diseases, Convergent Themes, Monday, September 19, 2011 - Wednesday, September 21, 2011
    Location: Beaver Hollow Conference Center, Java Center, NY
    Description: The infrastructure for this conference was developed by the MSG, whose investigators have worked for the past 10 years to secure extramural funding and to develop outcome measures for clinical research/experimental muscle and other neuromuscular diseases. The goal of this conference is to help identify commonalities across therapy development in neuromuscular disease to help ensure that lessons learned in any one disease are disseminated across the neuromuscular community.

  • Third Genome Dynamics in the Neurosciences Conference, Sunday, July 18, 2010 - Thursday, July 22, 2010
    Location: The Hilton Metropole, Brighton, England
    Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.

  • 14th International Spinal Muscular Atrophy Research Group Meeting, Thursday, June 24, 2010 - Sunday, June 27, 2010
    Location: Santa Clara, California
    Description: The overall meeting goal was to bring together junior and established spinal muscular atrophy (SMA) research experts from around the world to share unpublished data and foster a spirit of communication and collaboration. The majority of the leading investigators in SMA attend this conference each year. The conference also brought in young and new researchers into the SMA community, including those located internationally, who do not have opportunities to interact with the recognized thought leaders in this area. It arguably represents the best networking opportunity in the SMA field.

  • The Ottawa Conference on New Directions in Biology and Disease of Skeletal Muscle, Wednesday, May 05, 2010 - Thursday, May 06, 2010
    Location: Ottawa, Ontario, Canada
    Description: The conference highlighted current developments in muscle biology, disease, and therapy with presentations by leading international researchers.

  • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
    Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
    Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Other Names for this Disease
  • DSMA1
  • HMN VI
  • HMN6
  • Neuronopathy, distal hereditary motor, type VI
  • Neuronopathy, severe infantile axonal, with respiratory failure
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.