TY - JOUR
T1 - The state of Turner syndrome science
T2 - Are we on the threshold of discovery?
AU - Kruszka, Paul
AU - Silberbach, Michael
N1 - Funding Information:
The 2018 TRN Symposium was made possible by a grant from the National Institute of Child Health and Human Development (NICHD R13 HD096857-01), a grant from the Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement
Funding Information:
The 2018 TRN Symposium was made possible by a grant from the National Institute of Child Health and Human Development (NICHD R13 HD096857-01), a grant from the Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (#10460). We greatly appreciate the administrative (Cindy Scurlock, the president of the Turner Syndrome Society of the United States, [TSSUS], in particular) and financial assistance from the TSSUS, Turner Syndrome Global Alliance, Turner Syndrome Colorado, Media sponsor—American Journal of Medical Genetics. We would also like to thank the individuals with Turner syndrome and their families who were present at the 2018 TRN symposium and are committed to moving Turner science forward by participating in the TSRR. We would like to thank Dr. Adrianna San Roman for contributing the X-chromosome gene dosage figure for the cover art and Darryl Leja's (National Human Genome Research Institute) artistic contribution to the cover.
Publisher Copyright:
Published 2019. This article is a U.S. Government work and is in the public domain in the USA.
PY - 2019/3
Y1 - 2019/3
N2 - Turner syndrome (TS), a genetic condition affecting roughly 1 in 2,000 females, is caused by a complete or partial loss of the second sex chromosome. This special issue of the American Journal of Medical Genetics Part C is a collection of research and clinical care reviews in TS from an international group of physician and scientist leaders who attended the 2018 “Turner Network Resource Symposium: Turner Science in the 21st Century”, held in Arlington Virginia, July 15th-17th, 2018. Both this special issue and the 2018 Symposium are fueled by two rationales. First, inadequate attention has been given to health and psychosocial problems in girls and women with TS; and second, that an understanding of TS might shed light on the role of sex chromosome dosage in common conditions such as heart disease and autoimmune disease. These seminars interweave multiple themes: the fundamental partnership between participants with rare diseases and researchers, new knowledge regarding clinical care in TS, and an understanding of the “molecular phenotype” of TS-associated conditions.
AB - Turner syndrome (TS), a genetic condition affecting roughly 1 in 2,000 females, is caused by a complete or partial loss of the second sex chromosome. This special issue of the American Journal of Medical Genetics Part C is a collection of research and clinical care reviews in TS from an international group of physician and scientist leaders who attended the 2018 “Turner Network Resource Symposium: Turner Science in the 21st Century”, held in Arlington Virginia, July 15th-17th, 2018. Both this special issue and the 2018 Symposium are fueled by two rationales. First, inadequate attention has been given to health and psychosocial problems in girls and women with TS; and second, that an understanding of TS might shed light on the role of sex chromosome dosage in common conditions such as heart disease and autoimmune disease. These seminars interweave multiple themes: the fundamental partnership between participants with rare diseases and researchers, new knowledge regarding clinical care in TS, and an understanding of the “molecular phenotype” of TS-associated conditions.
KW - Turner syndrome
KW - patient registries
KW - sex chromosomes
UR - http://www.scopus.com/inward/record.url?scp=85062765540&partnerID=8YFLogxK
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U2 - 10.1002/ajmg.c.31688
DO - 10.1002/ajmg.c.31688
M3 - Editorial
C2 - 30790455
AN - SCOPUS:85062765540
SN - 1552-4868
VL - 181
SP - 4
EP - 6
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 -