The sixth international RASopathies symposium: Precision medicine-From promise to practice.

Abstract

The RASopathies are a group of genetic disorders that result from germline pathogenic variants affecting RAS-mitogen activated protein kinase (MAPK) pathway genes. RASopathies share RAS/MAPK pathway dysregulation and share phenotypic manifestations affecting numerous organ systems, causing lifelong and at times life-limiting medical complications. RASopathies may benefit from precision medicine approaches. For this reason, the Sixth International RASopathies Symposium focused on exploring precision medicine. This meeting brought together basic science researchers, clinicians, clinician scientists, patient advocates, and representatives from pharmaceutical companies and the National Institutes of Health. Novel RASopathy genes, variants, and animal models were discussed in the context of medication trials and drug development. Attempts to define and measure meaningful endpoints for treatment trials were discussed, as was drug availability to patients after trial completion.

• Authors: Karen W Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M Bennett, Susan Blaser, Amanda Brown, Rebecca Burdine, Emma Burkitt-Wright, Pau Castel, Sandra Darilek, Alwyn Dias, Tuesdi Dyer, Michelle Ellis, Gregg Erickson, Bruce D Gelb, Tamar Green, Andrea Gross, Alan Ho, James Lloyd Holder Jr, Shin-Ichi Inoue, Angie C Jelin, Annie Kennedy, Richard Klein, Maria I Kontaridis, Pilar Magoulas, Darryl B McConnell, Frank McCormick, Benjamin G Neel, Carlos E Prada, Katherine A Rauen, Amy Roberts, Pablo Rodriguez-Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Solman, Marco Tartaglia, Angelica Thomas, William C Timmer, Kartik Venkatachalam, Karin S Walsh, Pamela L Wolters, Jae-Sung Yi, Martin Zenker, Nancy Ratner
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 182 Issue 3 Pg. 597-606 (03 2020) ISSN: 1552-4833 [Electronic] United States
• PMID: 31825160 (Publication Type: Congress, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2019 Wiley Periodicals, Inc.

Chemical References

• Mitogen-Activated Protein Kinase Kinases
• ras Proteins

Topics

• Genetic Diseases, Inborn (genetics, pathology)
• Germ-Line Mutation (genetics)
• Humans
• Mitogen-Activated Protein Kinase Kinases (genetics)
• Signal Transduction (genetics)
• ras Proteins (genetics)