TY - JOUR
T1 - The Turner syndrome research registry
T2 - Creating equipoise between investigators and participants
AU - Scientific Advisory Board of the TSRR
AU - Prakash, Siddharth K.
AU - Lugo-Ruiz, Soniely
AU - Rivera-Dávila, Michelle
AU - Rubio, Nunilo
AU - Shah, Avni N.
AU - Knickmeyer, Rebecca C.
AU - Scurlock, Cindy
AU - Crenshaw, Melissa
AU - Davis, Shanlee M.
AU - Lorigan, Gary A.
AU - Dorfman, Aaron T.
AU - Rubin, Karen
AU - Maslen, Cheryl
AU - Bamba, Vaneeta
AU - Kruszka, Paul
AU - Silberbach, Michael
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/3
Y1 - 2019/3
N2 - To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient-powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33-item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side-by-side. The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.
AB - To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient-powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33-item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side-by-side. The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.
KW - Turner syndrome
KW - patient-centered
KW - registry
KW - research
UR - http://www.scopus.com/inward/record.url?scp=85061435751&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061435751&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.31689
DO - 10.1002/ajmg.c.31689
M3 - Article
C2 - 30758128
AN - SCOPUS:85061435751
SN - 1552-4868
VL - 181
SP - 135
EP - 140
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 -