TY - JOUR
T1 - Conference summary
T2 - What we have learned and where we are headed
AU - Maslen, Cheryl L.
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/3
Y1 - 2019/3
N2 - This overview highlights the actionable near-term objectives for the TRN drawn from discussions in the breakout sessions. A major purpose of the symposium was to focus attention on establishing priorities, setting goals, and identifying the steps toward accomplishing those goals. Two major objectives were identified. One is to establish Turner syndrome as a priority area of research for the National Institutes of Health. Turner syndrome should not only be viewed as a rare disorder, but also as a model for common diseases that have a male sex bias in the general population attributable to the lack of a second X chromosome. Barriers to recognition of Turner syndrome as an important area of research were identified, and new approaches to enhancing visibility are discussed. The second major objective is to further development of the Turner Syndrome Research Registry (TSRR). This patient-powered research registry is a paradigm-shifting model for how human-based research can be improved through equal partnerships between researchers and study subjects. The TSRR is founded on an agreement that study participants are the ultimate owners of their personal data. The major challenges to establishing a maximally functional registry of this design were discussed, and a clear path forward was established.
AB - This overview highlights the actionable near-term objectives for the TRN drawn from discussions in the breakout sessions. A major purpose of the symposium was to focus attention on establishing priorities, setting goals, and identifying the steps toward accomplishing those goals. Two major objectives were identified. One is to establish Turner syndrome as a priority area of research for the National Institutes of Health. Turner syndrome should not only be viewed as a rare disorder, but also as a model for common diseases that have a male sex bias in the general population attributable to the lack of a second X chromosome. Barriers to recognition of Turner syndrome as an important area of research were identified, and new approaches to enhancing visibility are discussed. The second major objective is to further development of the Turner Syndrome Research Registry (TSRR). This patient-powered research registry is a paradigm-shifting model for how human-based research can be improved through equal partnerships between researchers and study subjects. The TSRR is founded on an agreement that study participants are the ultimate owners of their personal data. The major challenges to establishing a maximally functional registry of this design were discussed, and a clear path forward was established.
UR - http://www.scopus.com/inward/record.url?scp=85059907352&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85059907352&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.31669
DO - 10.1002/ajmg.c.31669
M3 - Comment/debate
C2 - 30633444
AN - SCOPUS:85059907352
SN - 1552-4868
VL - 181
SP - 25
EP - 27
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 1
ER -