The goal of the Smith Workshop is to bring together a diverse group of clinicians and scientists to advance general understanding of human dysmorphogenesis as well as normal morphogenesis. To meet this goal, the descriptions of new syndromes, more detailed phenotypic characterization of already established syndromes, studies of the natural...
Events
The anticipated outcomes of this meeting series are increased collaborations among the participants; an outline of future research strategy, focused on finding a treatment for Barth syndrome; in-depth evaluations of approaches to the treatment of Barth syndrome; and increased communication and publication of material directly relevant to Barth syndrome.
The broad and long-term goal of this conference is to improve our current understanding of fundamental mechanisms and regulation of RNA biogenesis in normal and disease states. The emphasis is on post-transcriptional transactions involving the generation and metabolism of mRNA, but this extends to transcriptional coupling and to factors involved...
The purpose of this conference is to focus on the important group of matricellular proteins that have context-specific functions in all major body tissues and are now appreciated to have roles in multiple physiological and pathophysiological processes including development, human genetic diseases, inflammation and wound healing, diabetes, renal disease, heart...
The goal of this meeting is to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program is designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as...
Conference goals are to (1) gather families affected by WAS together in a nonmedical setting to share experiences with each other and present concerns to experts in immunology, BMT, and genetics; (2) review research achievements in WAS diagnosis, treatment (including BMT approaches and gene therapy), post-transplant outcomes (reconstitution and side...
The goals of this conference are to (1) improve public awareness of Marfan syndrome; (2) improve patients’ knowledge of their condition and therapeutic options available to them (medical, social, and psychological); and (3) bring patients together with specialists from multiple disciplines including medical genetics, cardiology, cardiac surgery, orthopedics, and ophthalmology.
The goals of this meeting are to review the current understanding of enteric immunity and to foster collaboration between U.S. investigators and their South Asian counterparts.
The overall meeting goal is to bring together junior and established 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 brings in young and...
The goals of this conference are to (1) provide an opportunity for investigators to become inspired by ichthyosis patients, thereby helping them focus on facilitating diagnosis, improving understanding of long- and short-term medical and social issues, and developing new therapeutic approaches to treatment and (2) identify new ways in which...
The goal of the workshop is to present state-of-the-art technological advances to both the neural prosthesis and DBS communities while encouraging interaction between these two groups to develop new collaborations to create therapies for human use. In addition, inclusion and showcasing of trainees is an important goal. Student poster presentations...
This conference will provide a forum for both new and established investigators to present their most recent work, highlighting new findings relevant to adrenal physiology, biochemistry and molecular biology, genetics, and medicine. It is anticipated that these discoveries will provide a framework for further understanding of the function of the...
The goals of this meeting are to review the current evidence for care practices and define gaps for which knowledge regarding care is lacking. It is hoped that information (or lack thereof) presented at this meeting will lead to new initiatives and advancement of knowledge and care in the field.
Goals of this conference are to provide training for junior principal investigators (PIs) and new consortia PIs and to inform advocacy groups. For more information please visit the Conference Web Site
The goal of this meeting is to allow clinicians and scientists to share new data, translate that information into effective strategies for patient diagnosis and management, and provide motivation for new research efforts.
Goals of the symposium include working together to (1) gather information/data to support new clinical trials with drug/gene therapies based upon in vitro and in vivo research results; (2) generate important reagents, including antibodies, animal models, cell lines, tumor samples, recombinant proteins, etc., for distribution to the BHD research community;...
The goal of this conference is to advance the field of craniofacial morphogenesis and regeneration and treatment of rare craniofacial diseases by communicating the most recent findings from the field. The interdisciplinary group of scientists working in basic science and translational fields will encourage cross-fertilization of ideas, experimental systems, animal...
The goals of this conference are to extend the findings in the area of ATM’s role in the DNA damage response into a better understanding of the neurologic phenotype of A-T. For information and registration please visit the Conference Web Site
February 28, 2010, is RARE DISEASE DAY, a series of events in Basel and Zurich designed to raise awareness among the general public about rare diseases and their impact on people’s lives. Throughout the day there will be special celebrity appearances and prizes given away, as well as a children‘s...
The broad objectives for the 2010 LAM Research Conference are to review research developments in LAM; attract new investigators to LAM research; identify promising new LAM research directions; and attempt to reach consensus on difficult clinical issues. The investigators believe that a 2010 LAM Research Conference is needed to sustain...