Minutes - National Institute of Nursing Research - National Institutes ...
Minutes - National Institute of Nursing Research - National Institutes ... Minutes - National Institute of Nursing Research - National Institutes ...
VIII. REPORT SLEEP DISTURBANCE AND IMPAIRMENT: MELATONINPRODUCTION AND PAX6 —Ms. Alyson Hanish, University of Iowa; GraduatePartnership Program, NINRWAGR syndrome is a genetic disorder characterized by Wilms tumor, aniridia, genitourinaryanomalies, and cognitive impairment. Genetic mutations (PAX6)have been associated withisolated aniridia, an autosomal dominant disease characterized by eye abnormalities, and withabsence or hypoplasia of the pineal gland, which produces melatonin and regulates circadianrhythm and sleep. Ms. Hanish, a GPP student, is working to characterize the non-ocularphenotype of PAX6 mutations by examining the pineal gland, melatonin production, and sleepbehavior in healthy controls and in patients with WAGR syndrome. She presented preliminarydata from her studies. These studies will be important in patients with WAGR Syndrome andmay lead the way to addressing the effects of similar mechanisms in other neglected geneticdisorders.IX.Gene REGULATION IN BREAST CANCER—Ms. Jennifer Dine, University ofMissouri at Columbia; Graduate Partnership Program, NINRSuppression of BRCA1, a critical tumor suppressor gene integral to genomic stability, is commonin sporadic breast disease, even in women with no family history or genetic predisposition tobreast cancer. Alteration in the gene for signaling protein (FGFR2) have been associated withhigher risk for breast cancer and higher levels of FGFR2 in human breast tumor fibroblasts,suggesting a role for FGFR2 in BRCA1 suppression and promoting breast malignancy. Ms. Dine,20
a GPP student, is further exploring interactions between FGFR2 and BRCA1. She presentedpreliminary results from her work.__________________________________________Following these presentations, Dr. Grady thanked participants and attendees for their time andengagement and adjourned the open session of the meeting.CLOSED SESSIONThis portion of the meeting was closed to the public in accordance with the determination thatthis session was concerned with matters exempt from mandatory disclosure under Sections552b(c)(4) and 552b(c)(6), Title 5, U.S. Code, and Section 10(d) of the Federal AdvisoryCommittee Act, as amended (5, USC Appendix 2). Members absented themselves from themeeting during discussion of and voting on applications from their own institutions or otherapplications in which there was a potential conflict of interest, real or apparent. Members wereasked to sign a statement to this effect.REVIEW OF APPLICATIONSThe members of the NACNR considered 153 research and training grant applications on whichNINR was the primary Institute; these applications requested a total of $37, 063,463 (directcosts year 01). The Council also considered 480 applications on which another Institute/Centerwas primary and NINR was secondary. These applications requested a total of $122, 129, 764(direct costs year 01). The Council concurred with the IRG recommendations on these 633applications.21
- Page 1 and 2: Department of Health and Human Serv
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- Page 6 and 7: The appropriation for NINR has rema
- Page 8 and 9: • NIH has launched a new online r
- Page 10 and 11: III.OVERVIEW OF THE INTRAMURAL RESE
- Page 12 and 13: • Unbiased target identification,
- Page 14 and 15: clinicians an integrated way to cap
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- Page 22 and 23: ADJOURNMENTThe 77th meeting of the
- Page 24: Mrs. Angela Marshall, NINR/NIHMs. A
VIII. REPORT SLEEP DISTURBANCE AND IMPAIRMENT: MELATONINPRODUCTION AND PAX6 —Ms. Alyson Hanish, University <strong>of</strong> Iowa; GraduatePartnership Program, NINRWAGR syndrome is a genetic disorder characterized by Wilms tumor, aniridia, genitourinaryanomalies, and cognitive impairment. Genetic mutations (PAX6)have been associated withisolated aniridia, an autosomal dominant disease characterized by eye abnormalities, and withabsence or hypoplasia <strong>of</strong> the pineal gland, which produces melatonin and regulates circadianrhythm and sleep. Ms. Hanish, a GPP student, is working to characterize the non-ocularphenotype <strong>of</strong> PAX6 mutations by examining the pineal gland, melatonin production, and sleepbehavior in healthy controls and in patients with WAGR syndrome. She presented preliminarydata from her studies. These studies will be important in patients with WAGR Syndrome andmay lead the way to addressing the effects <strong>of</strong> similar mechanisms in other neglected geneticdisorders.IX.Gene REGULATION IN BREAST CANCER—Ms. Jennifer Dine, University <strong>of</strong>Missouri at Columbia; Graduate Partnership Program, NINRSuppression <strong>of</strong> BRCA1, a critical tumor suppressor gene integral to genomic stability, is commonin sporadic breast disease, even in women with no family history or genetic predisposition tobreast cancer. Alteration in the gene for signaling protein (FGFR2) have been associated withhigher risk for breast cancer and higher levels <strong>of</strong> FGFR2 in human breast tumor fibroblasts,suggesting a role for FGFR2 in BRCA1 suppression and promoting breast malignancy. Ms. Dine,20
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