The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Karen W GrippLisa SchillLisa SchoyerBeth StronachAnton M BennettSusan BlaserAmanda BrownRebecca BurdineEmma Burkitt-WrightPau CastelSandra DarilekAlwyn DiasTuesdi DyerMichelle EllisGregg EricksonBruce D GelbTamar GreenAndrea GrossAlan HoJames Lloyd HolderShin-Ichi InoueAngie C JelinAnnie KennedyRichard KleinMaria I KontaridisPilar MagoulasDarryl B McConnellFrank McCormickBenjamin G NeelCarlos E PradaKatherine A RauenAmy RobertsPablo Rodriguez-VicianaNeal RosenGavin RumbaughAnna SablinaMaja SolmanMarco TartagliaAngelica ThomasWilliam C TimmerKartik VenkatachalamKarin S WalshPamela L WoltersJae-Sung YiMartin ZenkerNancy RatnerPublished in: American journal of medical genetics. Part A (2019)
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.
Keyphrases
- healthcare
- genome wide
- copy number
- public health
- end stage renal disease
- signaling pathway
- newly diagnosed
- oxidative stress
- chronic kidney disease
- primary care
- clinical trial
- quality improvement
- mental health
- pi k akt
- wild type
- risk factors
- case report
- genome wide identification
- dna repair
- dna methylation
- phase iii
- health information
- emergency department
- phase ii
- peritoneal dialysis
- cell proliferation
- risk assessment
- climate change
- electronic health record
- deep learning