Date: January 24, 2008 5:00-7:00pm

Topic: NIH-NINDS mTOR Workshop Re-cap & Review of New England Journal of Medicine articles & letters re: LAM & TSC

Key points & discussion:

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

Letter to the Editor: Diagnostic Potential of Serum VEGF-D for Lymphangioleiomyomatosis

Editorial: Efficacy of Sirolimus in Treating Tuberous Sclerosis and Lymphangioleiomyomatosis

Letter to the Editor: Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis

NIH mTOR Meeting – Key Points & Implications

Mustafa Sahin, MD, PhD: Cognitive effects of treatment with mTOR inhibitors & discussion. Mustafa Sahin, MD, PhD is an Assistant Professor of Neurology at Children's Hospital Boston. Three primary goals of Dr. Sahin's research are to understand the role of TSC genes in axon guidance, to characterize role of SMN gene in axon outgrowth and guidance in vivo, and to identify RNA cargos and translationally-regulated neuronal targets of SMN.

Vijaya Ramesh, PhD: Cell type dependent differences in mTOR signaling and implications for studying LAM and TSC & discussion. Vijaya Ramesh, PhD is an Associate Professor of Neurology (Genetics) at Harvard Medical School and an Associate Neurologist at Massachusetts General Hospital. Her laboratory investigates tumor suppressor genes and their functions, particularly tumor suppressors related to Neurofibromatosis 2 (NF2) and Tuberous Sclerosis 1 and 2 (TSC).

David Kwiatkowski, MD, PhD: What can work on glioma and RAD001 or related compounds teach us in regard to LAM/TSC? & discussion. David Kwiatkowski, MD, PhD is an Associate Professor of Medicine at Harvard Medical School. His research interests in genetics include determinants of risk for lung cancer in young patients, the molecular pathogenesis of tuberous sclerosis, and the importance of actin-based cell motility in cancer metastasis.

Review of NEJM Articles/Letters/Editorials on LAM/TSC

Sandra Dabora, MD, PhD is an Assistant Professor, Department of Medicine at Harvard Medical School and Assistant Professor, Division of Hematology at Brigham and Women's Hospital. The goal of her TSC translational research program is to investigate novel therapeutic approaches for TSC using mouse models and translate these findings to patient care. A major ongoing project is a multi-center phase II clinical trial to evaluate the efficacy of sirolimus (rapamycin, Rapamune) for the treatment of kidney angiomyolipomas in patients with TSC and/or LAM.

Elizabeth Thiele, MD, PhD is the Director of the Pediatric Epilepsy Program at Massachusetts General Hospital and Associate Professor of Neurology at Harvard Medical School. She organized and established the Herscot Center for Tuberous Sclerosis Complex, as well as a ketogenic diet clinic to treat and manage patients with epilepsy. Her research and clinical interests include the role of diet in epilepsy treatment, genotype-phenotype correlation in TSC, the role of epilepsy surgery in management of intractable epilepsy, outcomes following infantile spasms, and neuropsychological profiles in relationship to tuber number and location in TSC.

Po-Shun Lee, MD is an Instructor in Medicine at Harvard Medical School. His current research focuses on two projects: TSC-related matrix metalloproteinases (MMP) expressions in lymphangioleiomyomatosis (LAM), and Plasma gelsolin protein (pGSN) and its role in inflammationand tissue injury.

Geraldine Finlay is Assistant Professor in the Pulmonary and Critical Care Division of the New England Medical Center (NEMC). Her clinical interests include COPD/Emphysema, Asthma, Lymphangioleiomyomatosis (LAM), and Lung Cancer. She is examining the role of growth factors (Platelet-Derived Growth Factor and Estrogen) in lymphangioleiomyomatosis.

Location: New Research Building, Harvard Medical School
77 Avenue Louis Pasteur, Room 350

Parking: Free parking in the lot below the New Research Building has been graciously donated.Space is limited and will be made available to participants coming from outside of the Longwood Medical Area.

Please RSVP to amy_farber@hms.harvard.edu and indicate the number of people attending.

We appreciate your help in forwarding this announcement to relevant researchers, labs and clinicians.

Thank you for your interest and participation!

David Kwiatkowski, Amy Farber and Michael Nurok