4th Annual International PTEN Symposium: From Patient-Centered Research to Clinical Care

NIH RePORTER · NIH · R13 · $5,000 · view on reporter.nih.gov ↗

Abstract

Project Summary: The 4th Annual International PTEN Symposium: From Patient-Centered Research to Clinical Care is a unique opportunity to review the latest scientific and clinical advances in PTEN Hamartoma Tumor Syndrome (PHTS), a rare genetic condition caused by germline mutations in the PTEN gene that is associated with an increased risk for certain cancers and benign growths and is one of the most common etiologies for neurodevelopmental conditions, including autism spectrum disorder. Presented by Cleveland Clinic's Genomic Medicine Institute and Center for Personalized Genetic Healthcare and endorsed by the PTEN Hamartoma Tumor Syndrome Foundation and PTEN Italia, the symposium will offer state-of- the-art information to healthcare providers treating patients with germline PTEN mutations and provide a forum for members of the PHTS patient community to connect and learn about cutting- edge PTEN research as well as clinical surveillance and management guidelines. PHTS is a rare, complex disorder affecting multiple organs over the lifespan with differing manifestations based on age. Patients with a PTEN mutation require lifetime follow-up for neurological concerns and cancer risk surveillance as well as familial screening and evaluation. A comprehensive care model that includes both pediatric and adult specialists familiar with this condition and prepared to provide optimal care is necessary. Unfortunately, PHTS is not well known to many clinicians throughout the world. To address this knowledge gap, the program is centered on the following learning objectives: (1) describe current PTEN translational and clinical research, (2) apply research information about PHTS to diagnosis, screening, surveillance, guidelines, patient needs, clinical features and coordination of multidisciplinary team care and (3) demonstrate awareness and share education about PHTS, leading to timely diagnosis, appropriate surveillance and improved patient outcomes. Expert Cleveland Clinic and guest faculty will share case-based presentations and research highlighting the advances of genetics and genomics of PHTS and the science of PTEN. Topics include neurodevelopment, gynecological cancer risks, cutaneous findings, hormone use and high-risk patients, and stress and resilience in coping with PHTS. The program also will incorporate a research panel on PTEN clinical trials and a patient experience panel on PTEN and family dynamics. The symposium will be held as a live one-day event at the InterContinental Hotel and Bank of America Conference Center in Cleveland, Ohio and will be available to virtual attendees via a livestream.

Key facts

NIH application ID
10236804
Project number
1R13TR003732-01
Recipient
CLEVELAND CLINIC LERNER COM-CWRU
Principal Investigator
Charis Eng
Activity code
R13
Funding institute
NIH
Fiscal year
2021
Award amount
$5,000
Award type
1
Project period
2021-03-10 → 2022-03-09