Conference summary: What we have learned and where we are headed. 2019

Cheryl L Maslen
Knight Cardiovascular Institute, Oregon Health & Science University, Portland, Oregon.

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.

UI MeSH Term Description Entries
D012042 Registries The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers. Parish Registers,Population Register,Parish Register,Population Registers,Register, Parish,Register, Population,Registers, Parish,Registers, Population,Registry
D003226 Congresses as Topic Works about conferences, conventions or formal meetings usually attended by delegates representing a special field of interest. Conferences,Conference Proceedings as Topic,Conferences and Congresses,Conferences and Proceedings,Congresses and Conferences,Professional Meetings and Conferences,Congresses as Topics,Proceedings and Conferences,Topics, Congresses as
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014424 Turner Syndrome A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis, 45,X,Gonadal Dysgenesis, XO,Monosomy X,Status Bonnevie-Ullrich,Turner's Syndrome,Ullrich-Turner Syndrome,Bonnevie Ullrich Syndrome,Status Bonnevie Ullrich,Syndrome, Ullrich-Turner,Turners Syndrome,Ullrich Turner Syndrome,XO Gonadal Dysgenesis
D035843 Biomedical Research Research that involves the application of the natural sciences, especially biology and physiology, to medicine. Medical Research,Experimental Medicine,Investigational Medicine,Investigative Medicine,Research, Biomedical,Research, Medical,Medicine, Experimental,Medicine, Investigational,Medicine, Investigative

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