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TSC ALERT September 2009

FUNDING OPPORTUNITIES

FEDERAL FUNDING AGENCIES National Institutes of Health

Director's New Innovator Award Program (DP2) (RFA-RM-09-011) NIH Roadmap Initiatives Application Receipt Date(s): October 27, 2009 http://grants.nih.gov/grants/guide/rfa-files/RFA-RM-09-011.html Institutional Clinical and Translational Science Award (U54) (RFA-RM-09-019) NIH Roadmap Initiatives Application Receipt Date(s): June 01, 2010 http://grants.nih.gov/grants/guide/rfa-files/RFA-RM-09-019.html Optimization of Small Molecule Probes for the Nervous System (STTR [R41]) (PAR-09259) National Institute of Neurological Disorders and Stroke National Eye Institute National Institute on Aging National Institute on Alcohol Abuse and Alcoholism National Institute on Drug Abuse Application Receipt/Submission Date(s): Multiple dates, see announcement. http://grants.nih.gov/grants/guide/pa-files/PAR-09-259.html Optimization of Small Molecule Probes for the Nervous System (SBIR [R43]) (PAR-09260) National Institute of Neurological Disorders and Stroke National Eye Institute National Institute on Aging National Institute on Alcohol Abuse and Alcoholism National Institute on Drug Abuse National Institute of Mental Health Application Receipt/Submission Date(s): Multiple dates, see announcement. http://grants.nih.gov/grants/guide/pa-files/PAR-09-260.html Limited Competition for Research Centers in Minority Institutions Infrastructure for Clinical and Translational Research (RCTR) [U54] (PAR-09-261) National Center for Research Resources Application Receipt/Submission Date(s): November 18, 2009 http://grants.nih.gov/grants/guide/pa-files/PAR-09-261.html

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TSC PUBLICATIONS

Adriaensen ME, Schaefer-Prokop CM, Duyndam DA, Zonnenberg BA, Prokop M (2009) Fatty Foci in the Myocardium in Patients with Tuberous Sclerosis Complex: Common Finding at CT. Radiology 2009 Aug 25 [Epub ahead of print] Astigueta JC, Abad MA, Pow-Sang MR, Morante C, Meza L, Destefano V, Dyer R (2009) Epithelioid angiomyolipoma: A rare variant of renal angiomyolipoma. Arch Esp Urol 62(6):493-497 [Article published in English and Spanish] Baum JI, Kimball SR, Jefferson LS (2009) Glucagon acts in a dominant manner to repress insulininduced mammalian target of rapamycin complex 1 signaling in perfused rat liver. Am J Physiol Endocrinol Metab 297(2):E410-5 [Epub 2009 Jun 9] Benvenuto A, Moavero R, Alessandrelli R, Manzi B, Curatolo P (2009) Syndromic autism: causes and pathogenetic pathways. World J Pediatr 5(3):169-76 [Epub 2009 Aug 20] Bhatia B, Northcott PA, Hambardzumyan D, Govindarajan B, Brat DJ, Arbiser JL, Holland EC, Taylor MD, Kenney AM (2009) Tuberous Sclerosis Complex Suppression in Cerebellar Development and Medulloblastoma: Separate Regulation of Mammalian Target of Rapamycin Activity and p27Kip1 Localization. Cancer Res 2009 Sep 8 [Epub ahead of print] Chariot A (2009) The NF-kappaB-independent functions of IKK subunits in immunity and cancer. Trends Cell Biol 19(8):404-13 [Epub 2009 Aug 3] Chiang PC, Lin SC, Pan SL, Kuo CH, Tsai IL, Kuo MT, Wen WC, Chen P, Guh JH (2009) Antroquinonol displays anticancer potential against human hepatocellular carcinoma cells: a crucial role of AMPK and mTOR pathways. Biochem Pharmacol 2009 Aug 29 [Epub ahead of print] Chick CM, Tan BS, Cheng C, Taneja M, Lo R, Tan YH, Lin SE, Tay KH (2009) Long-term follow-up of the treatment of renal angiomyolipomas after selective arterial embolization with alcohol. BJU Int 2009 Aug 25 [Epub ahead of print] D'Argenzio L, Koch G, Bombardieri R, Mori F, Moavero R, Centonze D, Curatolo P (2009) Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex. Epilepsy Res [2009 Aug 25] [Epub ahead of print] de Vries PJ (2009) Genetics and neuropsychiatric disorders: genome-wide, yet narrow. Nat Med 15(8):850-1 Ehninger D, de Vries PJ, Silva AJ (2009) From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res. 2009 Aug 19. [Epub ahead of print] Ehninger D, Silva AJ (2009) Genetic and neuropsychiatric disorders: treatment during adulthood. Nat Med 15(8):849-50 El-Chemaly S, Taveira-DaSilva A, Stylianou MP, Moss J (2009) Statins in lymphangioleiomyomatosis: a word of caution. Eur Respir J 34(2):513-4 Fernández-Guarino M, Boixeda P, Anaya MJ, Belmar P, Jaén P (2009) [Clinical findings in 67 patients with tuberous sclerosis.] Actas Dermosifiliogr 100(7):596-601 [Article published in Spanish] Granata A, Mignami R (2009) Nephrology image. Shagreen patch. Kidney Int 75(12):1364

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Hirabayashi K, Nakamura N, Kajiwara H, Hori S, Kawaguchi Y, Yamashita T, Dowaki S, Imaizumi T, Osamura RY (2009) Perivascular epithelioid cell tumor (PEComa) of the pancreas: immunoelectron microscopy and review of the literature. Pathol Int 59(9):650-5 Linehan WM (2009) Genetic basis of bilateral renal cancer: implications for evaluation and management. J Clin Oncol 27(23):3731-3 [Epub 2009 Jul 13] http://jco.ascopubs.org/cgi/content/full/27/23/3731 Lopez JP, Ossandón D, Miller P, Sánchez L, Winter A (2009) Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis. J AAPOS 13(4):413-4 Mahimainathan L, Ghosh-Choudhury N, Venkatesan B, Das F, Mandal CC, Dey N, Habib SL, Kasinath BS, Abboud HE, Ghosh Choudhury G (2009) TSC2 deficiency increases pten via HIF1alpha. J Biol Chem 2009 Jul 31 [Epub ahead of print] http://www.jbc.org/cgi/reprint/M109.028860v1?view=long&pmid=19648120 Mitani K, Kumasaka T, Takemura H, Hayashi T, Gunji Y, Kunogi M, Akiyoshi T, Takahashi K, Suda K, Seyama K (2009) Cytologic, immunocytochemical and ultrastructural characterization of lymphangioleiomyomatosis cell clusters in chylous effusions of patients with lymphangioleiomyomatosis. Acta Cytol 53(4):402-9 Mori H, Inoki K, Opland D, Muenzberg H, Villanueva EC, Faouzi M, Ikenoue T, Kwiatkowski D, Macdougald OA, Myers Jr MG, Guan KL (2009) Critical roles for the TSC-mTOR pathway in {beta}cell function. Am J Physiol Endocrinol Metab 2009 Aug 18 [Epub ahead of print] Moss J, Howlin P (2009) Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res 2009 Aug 25 [Epub ahead of print] Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, Ekong R, Povey S, den Dunnen J, van den Ouweland A, Halley D, Nellist M (2009) Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 10(1):88 [Epub ahead of print] O'Donnell DH, Abbara S, Chaithiraphan V, Yared K, Killeen RP, Cury RC, Dodd JD (2009) Cardiac tumors: optimal cardiac MR sequences and spectrum of imaging appearances. AJR Am J Roentgenol 193(2):377-87 Piao X, Kobayashi T, Wang L, Shiono M, Takagi Y, Sun G, Abe M, Hagiwara Y, Zhang D, Okimoto K, Kouchi M, Matsumoto I, Hino O (2009) Regulation of folliculin (the BHD gene product) phosphorylation by Tsc2-mTOR pathway. Biochem Biophys Res Commun 2009 Aug 17 [Epub ahead of print] Robert F, Carrier M, Rawe S, Chen S, Lowe S, Pelletier J (2009) Altering chemosensitivity by modulating translation elongation. PLoS One 4(5):e5428 [Epub 2009 May 1] http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=19412536 Rosner M, Dolznig H, Fuchs C, Siegel N, Valli A, Hengstschläger M (2009) CDKs as therapeutic targets for the human genetic disease tuberous sclerosis? Eur J Clin Invest 2009 Sep 9 [Epub ahead of print] Sandoval-Tress C, Martínez-Baumbach EB, Rodríguez-Mora EA, López-Terrazas JH (2009) [Valvular and subvalvular aortic stenosis. Unusual expression of tuberous sclerosis.] An Pediatr (Barc) 2009 Aug 31[Epub ahead of print] [Article published in Spanish]

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Shigemura N, Kawamura T, Minami M, Sawabata N, Inoue M, Utsumi T, Nakagiri T, Matsumiya G, Sawa Y, Okumura M (2009) Successful factor XII administration for persistent chylothorax after lung transplantation for lymphangioleiomyomatosis. Ann Thorac Surg 88(3):1003-6 Stemmer K, Ellinger-Ziegelbauer H, Ahr HJ, Dietrich DR (2009) Molecular characterization of preneoplastic lesions provides insights on the development of renal tumors. Am J Pathol 2009 Aug 28 [Epub ahead of print] Weinberger CH, Endrizzi B, Hook KP, Lee PK (2009) Treatment of Angiofibromas of Tuberous Sclerosis with 5-Aminolevulinic Acid Blue Light Photodynamic Therapy Followed by Immediate Pulsed Dye Laser. Dermatol Surg 2009 Aug 13 [Epub ahead of print] Weiss HR, Liu X, Hunter C, Z Chi O (2009) Effects of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor blockade on increased cerebral O(2) consumption in Eker rats. Brain Res 2009 Aug 14 [Epub ahead of print] Zhou J, Brugarolas J, Parada LF (2009) Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1. Hum Mol Genet 2009 Aug 19 [Epub ahead of print]

CONFERENCES, MEETINGS AND SEMINARS

September 23-26, 2009 International Tuberous Sclerosis Complex Conference From DNA to Human Therapies Indian Lakes Hilton Resort Bloomingdale, IL More information at: http://www.tsalliance.org/pages.aspx?content=564 October 4-7, 2009 4th International Conference on Birth Defects and Disabilities in Developing Countries Translating Research into Cost-effective Services for Care and Prevention New Delhi, India Conference website: www.icbd2009.com Contact: Dr. I.C. Verma at [email protected] October 14-16, 2009 Listening to Genetic Disorders: The Etiology and Treatment of Neurodevelopmental Disorders Organized by the Society for the Study of Behavioral Phenotypes and the Tuberous Sclerosis Alliance with support from a Conference Grant from the Tuberous Sclerosis Alliance Cambridge University, Cambridge, UK More information at: http://www.ssbp.co.uk/ssbp/pages/society-meeting.php or www.tsalliance.org October 15-18, 2009 3rd Beijing International Epilepsy Forum Beijing, People's Republic of China Abstracts submission deadline: May 31, 2009 Please e-mail your abstract to: [email protected] Or: [email protected] October 22-25, 2009 BIT's 7th Annual Congress of International Drug Discovery Science and Technology (IDDST): Milestones of Innovative Therapeutics Everbright Convention and Exhibition Center, Shanghai, China More information at: http://www.iddst.com

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December 4-8, 2009 American Epilepsy Society Annual Meeting Hynes Convention Center, Boston, MA More information at: www.aesnet.org Join us for the TSC Special Interest Group (SIG) on Saturday, Dec. 5, 2009 at 6:00 pm! (Note new time!) Tuberous Sclerosis Complex (TSC) SIG Coordinators: Vicky H. Whittemore, Ph.D. & Gregory L. Holmes, M.D. Speakers: Orrin Devinsky, M.D., Howard L. Weiner, M.D., Joyce Wu, M.D., Gary W. Mathern, M.D. Two groups will present different strategies for the pre-surgical workup and surgical approaches in epilepsy surgery for individuals with TSC. December 7-8, 2009 Genetics of Urologic Malformations NIDDK, NIH For more information, and to register: http://www3.niddk.nih.gov/fund/other/GVUR2009/ There is no registration fee, but you must register to attend at A limited number of travel awards is available for junior investigators. Please see the Web site for more details on how to apply.

NEWS

Join the New TSC Professional Listserv The TS Alliance created a new listserv for researchers, educators and health care professionals. This listserv is intended to provide a private and confidential forum for discussion of difficult medical issues, to ask questions of other professionals, and to obtain responses from other educators about educational issues faced by individuals with TSC. To join: 1. Go to www.tsalliance.org 2. At the top of the page click on the button that says "Online Communities" 3. Once you click on Online Communities, a menu will drop down: choose "Discussion Groups" 4. Then click on "TSC research, treatment, & education professionals" 5. Finally, just follow the directions If you have any questions please contact Dena Hook, Director of Education & Advocacy at [email protected] or 1-800-225-6872. The Lap-Chee Tsui Publication Awards The Institute of Genetics of CIHR is pleased to announce the launch of the Canadian Institutes of Health Research's Institute of Genetics (CIHR-IG) Lap-Chee Tsui Publication Awards, a set of prizes for exceptional trainee-conducted research that falls within the mandate of the Institute of Genetics. The Institute established the awards to honour one of Canada's greatest geneticists, Dr. Lap-Chee Tsui, whose discovery of the gene for cystic fibrosis was a milestone in human genetic disease research. Each year, a total of up to four $1,000 prizes will be made available for published, peer-reviewed scientific articles by Ph.D. level graduate students, post-doctoral fellows or medical residents. Two awards will be for publications in biomedical research, and two awards will be for publications in clinical, health services, population health, or genetic ethical, legal or social issues research. Note that in any year not all the awards may necessarily be given. Nominations of trainees for this award can be made by their supervisors, other faculty members or their department heads. The nominator should identify a peer-reviewed publication of which the trainee was first author, and that was published in the 12 months up to and including September 31 of the year of nomination. The research must have been conducted in Canada or by a Canadian trainee working abroad. Additional details, including nomination forms and complete eligibility requirements, can be found on

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the Lap-Chee Tsui Publication Award page ( http://cp20.com/Tracking/t.c?7jTk-4xcs-DKuR83 ) under CIHR-IG Regular Funding Programs. Please address any questions to Ursula Danilczyk, Assistant Director of the IG. Contact: Ursula Danilczyk, Institute of Genetics http://cp20.com/Tracking/t.c?7jTk-4xct-DKuR84 Canadian Institutes of Health Research, 123 Edward Street, Suite 1211, Toronto, ON M5G1E2 Ph: 416-813-7670; [email protected] International TSC Research Conference in September 2009! The TS Alliance presents its International TSC Research Conference "From DNA to Human Therapies" on September 23-26, 2009 at Indian Lakes Resort in Bloomingdale, Illinois. This conference will focus on basic, translational and clinical research. Keynote speakers, plenary sessions, selected short talks, and a poster presentation will provide a forum for interactions among investigators working in all areas of TSC research. Click here for more information and to register. Society for the Study of Behavioural Phenotypes Annual Meeting Society for the Study of Behavioural Phenotypes (SSBP) 2009 Annual Meeting: Listening to Genetic Disorders: The Aetiology and Treatment of Neurodevelopmental Disorders at Corpus Christi College, Cambridge in the UK. The meeting is co-sponsored by the TS Alliance and will be hosted by Dr. Petrus de Vries (SSBP), Dr. Vicky Whittemore (TS Alliance) and Prof. Christopher Howe (Corpus Christi College). For more information, click here to download the flyer or go to http://www.ssbp.co.uk/ssbp/pages/society-meeting.php

RESEARCH RESOURCES

TSC1 and TSC2 Variation Databases The TS Alliance funded the development and ongoing curation of the TSC1 and TSC2 Variation Database. These databases contain the reported variations (mutations and polymorphisms) in the TSC1 and TSC2 genes. The database is curated by Rosemary Ekong, PhD and Sue Povey, PhD at the University College London. To access the databases, go to: TSC1 Database: http://chromium.liacs.nl/LOVD2/TSC/home.php?select_db=TSC1 TSC2 Database: http://chromium.liacs.nl/LOVD2/TSC/home.php?select_db=TSC2

TSC CLINICAL TRIALS

For a complete list of TSC clinical trials, go to: http://www.tsalliance.org/pages.aspx?content=370 Information can also be found at: http://www.clinicaltrials.gov

INFORMATION ABOUT TSC

For information about TSC and the Tuberous Sclerosis Alliance, visit the TS Alliance Web site at: http://www.tsalliance.org or contact the TS Alliance at [email protected] or by telephone: 1-800225-6872 or 301-562-9890.

This is the September 2009 edition of TSC Alert ­ an online research newsletter for individuals interested in Tuberous Sclerosis Complex (TSC) research and clinical care. This online newsletter contains information of interest to the TSC research and health care community. Please forward this newsletter to colleagues who are interested in TSC. To be added/deleted to/from the mailing list for TSC Alert and/or to submit information for the October 2009 TSC Alert contact: [email protected] Archived issues of the TSC Alert can be found at: http://www.tsalliance.org/pages.aspx?content=25

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