PTEN Research

PTEN Research is hiring! Exciting role as a Scientific Project Associate This is an entry level position for a motivated, proactive and detail-conscious individual to gain experience working in a busy medical research charity that funds and facilitates research into the rare genetic condition PTEN Hamartoma Tumour Syndrome (PHTS). 12 months contract.

PTEN Hamartoma Tumour Syndrome (PHTS) Awareness Day 2024 Today PTEN Research and other organisations who support people with PHTS and their families are proud to mark PHTS Awareness Day. The date of October 23rd (10/23) was selected as it reflects the location of PTEN on chromosome 10 (10q23) and reminds the PTEN Research team of our mission to fund and facilitate research that will lead to better treatments and improved outcomes for PHTS and our vision to have transformative therapies available for people with PHTS in the next ten years. If you have PHTS or are a family member of someone with PHTS, you may be interested in information on our website about ongoing PHTS studies, trials and registries (https://lnkd.in/evDwgiSu). Our website (https://lnkd.in/eNRM_HQf) also lists several other organisations supporting the PHTS community and we encourage you to follow them on their social media accounts as they will publish information about their activities and about PHTS. About PTEN Research   At PTEN Research, our mission is to fund and facilitate research that will lead to better treatments and improved outcomes for PHTS, a rare genetic syndrome that is caused by mutation in the tumour suppressor gene PTEN.   About PHTS   In PHTS a germline mutation to the PTEN gene results in abnormal PI3K/AKT/mTOR signalling, a key pathway regulating cell growth. Individuals with PHTS have an increased predisposition to cancer as well as various significant co-morbidities, including developmental delay, autism spectrum disorder, polyposis, vascular anomalies and hamartomas. The prevalence of PHTS is estimated at 1:200,000 but the condition is likely under-diagnosed. For Researchers If you are a researcher with an interest in PHTS, PTEN and/or the PI3K pathway, you can find more information on our website about how to apply for funding (https://lnkd.in/euMByvBU), and our research strategy (https://lnkd.in/e9fXWcaJ). Our recently published PHTS research tools (https://lnkd.in/e6UM75X6)  includes information about clinical trials, registries, preclinical models, and other resources. #PTENResearch #PHTS #PTEN

Paul Elvin on behalf of the joint PTEN Research and Evotec project team was proud to have presented the poster ‘PSTR151.05 / B39 - Microelectrode array (MEA) for assessing neuronal network restoration in PTEN knockdown primary hippocampal neurons’ at the Society for Neuroscience annual meeting in Chicago on Mon 7 Oct 24 (abstract: https://lnkd.in/eD86wUS6, full poster: https://lnkd.in/e_ep4_i5). The development and availability of a range of preclinical models such as those described in the poster provide critical tools to support PHTS drug development. About PTEN Research Foundation   At PTEN Research, our mission is to fund and facilitate research that will lead to better treatments and improved outcomes for PHTS, a rare genetic syndrome that is caused by mutation in the tumour suppressor gene PTEN. About PHTS In PHTS a germline mutation to the PTEN gene results in abnormal PI3K/AKT/mTOR signalling, a key pathway regulating cell growth. Individuals with PHTS have an increased predisposition to cancer as well as various significant co-morbidities, including developmental delay, autism spectrum disorder, polyposis, vascular anomalies and hamartomas. The prevalence of PHTS is estimated at 1:200,000 but the condition is likely under-diagnosed. For Researchers If you are a researcher with an interest in PHTS, PTEN and/or the PI3K pathway, and interested in applying for funding, you can find more information on our website about how to apply for funding, (https://lnkd.in/euMByvBU) and our research strategy. (https://lnkd.in/e9fXWcaJ). You can also find information about PHTS research tools such as animal models and patient cohorts on our website (https://lnkd.in/e6UM75X6) #PTENResearch #PHTS #PTEN

PTEN Research and Evotec are proud to present the poster ‘PSTR151.05 / B39 - Microelectrode array (MEA) for assessing neuronal network restoration in PTEN knockdown primary hippocampal neurons’ at the Society for Neuroscience annual meeting in Chicago on Mon 7 Oct 2024 0800-1200. (https://lnkd.in/eD86wUS6). If you are attending the meeting please drop by to speak with Paul Elvin regarding the Foundation and our work in the Neuroscience field. The development and availability of a range of preclinical models such as those described in the poster provide critical tools to support PHTS drug development. About PTEN Research Foundation    At PTEN Research, our mission is to fund and facilitate research that will lead to better treatments and improved outcomes for PHTS, a rare genetic syndrome that is caused by mutation in the tumour suppressor gene PTEN. About PHTS In PHTS a germline mutation to the PTEN gene results in abnormal PI3K/AKT/mTOR signalling, a key pathway regulating cell growth. Individuals with PHTS have an increased predisposition to cancer as well as various significant co-morbidities, including developmental delay, autism spectrum disorder, polyposis, vascular anomalies and hamartomas. The prevalence of PHTS is estimated at 1:200,000 but the condition is likely under-diagnosed. For Researchers If you are a researcher with an interest in PHTS, PTEN and/or the PI3K pathway, and interested in applying for funding, you can find more information on our website about how to apply for funding, (https://lnkd.in/euMByvBU) and our research strategy. (https://lnkd.in/e9fXWcaJ). You can also find information about PHTS research tools such as animal models and patient cohorts on our website https://lnkd.in/e6UM75X6 #PTENResearch #PHTS #PTEN

PTEN Research Foundation are proud to have been able to provide funding to the support development of the recently published systematic review ‘Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome (https://lnkd.in/e_Cz9BHa) This review defines a broad scope of neurologic comorbidities occurring in individuals with PHTS and categorisation by age at onset. Congratulations to the whole team including Andrew Dhawan, MD DPhil FRCPC, Sarah Baitamouni, Darren Liu and the much missed, late Charis Eng. About PTEN Research PTEN Research is a UK-registered charity. We fund and facilitate research that will lead to new and better treatment for PHTS, a rare condition which currently has no health authority approved therapies. We do this by funding research projects and bringing together a global network of PHTS focussed experts and other key partners. About PHTS   In PHTS, germline mutation of the PTEN gene increases PI3K/AKT/mTOR signalling, a key pathway regulating cell growth. Individuals with PHTS have an increased predisposition to cancer as well as various significant co-morbidities, including developmental delay, autism spectrum disorder, polyposis, vascular anomalies and hamartomas. The prevalence of PHTS is estimated to be 1:200,000 but the condition is likely under-diagnosed. #PTENResearch #PHTS #PTEN

Congratulations to Linda Hendricks from all at PTEN Research. We are very grateful for the ongoing research collaboration with all the team at Radboudumc and ERN GENTURIS to support a better understanding of PTEN hamartoma tumour syndrome (PHTS) and improve care for effected individuals and their families. #PTENResearch #PHTS #PTEN

If you haven’t already, please check out the new PTEN Hamartoma Tumour Syndrome (PHTS) research tools page on our website! Developed for all PHTS researchers, we hope this resource helps you find clinical and pre-clinical information on PHTS in one place https://lnkd.in/e6UM75X6   In line with our mission to fund and facilitate research that will lead to better treatments and improved outcomes for PHTS, we hope this online resource, that includes information on patient cohorts, existing clinical trials data, and laboratory and animal models, will stimulate new ideas and drive further collaboration within the PHTS community, not only to improve understanding of PHTS but also to accelerate future research.   Resources are generated from both the funding activity of PTEN Research and as well as others to create as comprehensive a resource as possible. New tools, models and datasets will be added as they become available.   If you have any queries or would like us to consider adding a resource you have generated, please get in touch research@ptenresearch.org Our Innovation Award programme is currently accepting new applications, for more information https://lnkd.in/eDa7PE5d About PTEN Research PTEN Research is a UK-registered charity. We fund and facilitate research that will lead to new and better treatment for PHTS, a rare condition which currently has no health authority approved therapies. We do this by funding research projects and bringing together a global network of PHTS focussed experts and other key partners. About PHTS   In PHTS, germline mutation of the PTEN gene increases PI3K/AKT/mTOR signalling, a key pathway regulating cell growth. Individuals with PHTS have an increased predisposition to cancer as well as various significant co-morbidities, including developmental delay, autism spectrum disorder, polyposis, vascular anomalies and hamartomas. The prevalence of PHTS is estimated to be 1:200,000 but the condition is likely under-diagnosed. #PTENResearch #PHTS #PTEN

The whole of PTEN Research Foundation were greatly saddened to hear of the recent death of Charis Eng.   Prof Eng was a true leader and pioneer in the field of PTEN Hamartoma Tumour Syndrome (PHTS). She was a key contributor to the seminal 1997 Nature Genetics paper ‘Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome’ that for the first time identified PTEN mutations in individuals with Cowden Syndrome and demonstrated that PTEN acts as a tumour suppressor in the germline.    Over the proceeding decades with her team at Cleveland Clinic and collaborators across the globe there have been significant advancements in the understanding of PHTS both in the context of underlying pathobiology and improved characterisation of the diverse clinical manifestations associated with the condition.   Charis cared deeply for the people with PHTS that she treated. In 2023 on publishing updated data from a long-term study, she was quoted as saying “Twenty years is a long time to work with the same group of patients … the relationship between our patients and our caregivers is extremely close. It is like a family.”   Prof Eng also played a pivotal role in shaping the scientific strategy of PTEN Research and was always generous with her time and wise counsel. She acted as chair of our scientific advisory board from 2019-2022 and we were privileged to continue to actively collaborate with her up to her death.    Speaking for the whole PHTS community, Prof Eng will be greatly missed. Our thoughts are with her family, friends, and colleagues across the globe.  

Congratulations to Prof Sahin from all at PTEN Research.

PTEN Research is excited to share the latest addition to its website – 'PHTS Research Tools' that collates sources of information on clinical and pre-clinical resources relevant to PHTS. https://lnkd.in/e6UM75X6   In line with our mission to fund and facilitate research that will lead to better treatments and improved outcomes for PHTS, we hope this online resource, that includes information on patient cohorts, existing clinical trials data, and laboratory and animal models, will stimulate new ideas and drive further collaboration within the PHTS community, not only to improve the understanding of PHTS but also to accelerate future research.   Resources generated from our own funding as well those from other groups and funders are included to create as comprehensive a resource as possible. New tools, models and datasets will be added as they become available.   If you have any queries or would like us to consider adding a resource you have generated, please get in touch research@ptenresearch.org. Our Innovation Award programme is currently accepting new applications, for more information https://lnkd.in/eDa7PE5d About PTEN Research PTEN Research is a UK-registered charity. We fund and facilitate research that will lead to new and better treatment for PHTS, a rare condition which currently has no health authority approved therapies. We do this by funding research projects and bringing together a global network of PHTS focussed experts and other key partners. About PHTS   In PHTS, germline mutation of the PTEN gene increases PI3K/AKT/mTOR signalling, a key pathway regulating cell growth. Individuals with PHTS have an increased predisposition to cancer as well as various significant co-morbidities, including developmental delay, autism spectrum disorder, polyposis, vascular anomalies and hamartomas. The prevalence of PHTS is estimated to be 1:200,000 but the condition is likely under-diagnosed. #PTENResearch #PHTS #PTEN