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    • Faculty & Disclosures
    Dr Rachael Grace

    Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA, USA

    Dr Rachael Grace is a paediatric haematologist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and an associate professor at Harvard Medical School in Boston, MA, USA. read more

    Dr Grace is the medical director of the Hematology Clinical Research Program at Boston Children’s Hospital and is recipient of the Blanche P. Alter Investigatorship in Hematology. She received her MD from Brown University and received her Masters in Medical Science from Harvard Medical School. She completed her paediatrics residency at Boston Children’s Hospital and paediatric haematology/oncology fellowship at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

    Dr Grace’s clinical and research interests are focused on improving outcomes of children with immune cytopenias and rare congenital haemolytic anaemias. She was the lead investigator for the Pyruvate Kinase (PK) Deficiency Natural History Study, and is on the steering committee for the Peak Registry for patients with PK deficiency. She is a co-chair of the First International Guideline for the diagnosis and management of PK deficiency, a global initiative. She is a leading investigator for clinical trials of PK activators to treat PK deficiency in adults and children.

    Dr Rachael Grace discloses: Consulting fees from Agios and Sanofi. Grants/research support from Agios, Novartis and Sobi.
    Dr Hanny Al-Samkari

    Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Dr Hanny Al-Samkari is an assistant professor of medicine at Harvard Medical School, Boston, MA, USA, and clinical investigator at the Massachusetts General Hospital (MGH) Division of Hematology Oncology. He also serves as co-director of the MGH Hereditary Hemorrhagic Telangiectasia (HHT) Center of Excellence. read more

    Dr Al-Samkari’s clinical and research interests are in haemostasis and haemolysis, focusing on HHT, anti-angiogenic therapeutics, thrombocytopenias, hereditary haemolytic anaemias and novel anaemia therapeutics. He currently serves as principal investigator for many clinical trials in these areas, and is an internationally recognized expert in clinical use and development of pyruvate kinase activators.

    Dr Hanny Al-Samkari discloses: Consulting fees from Agios, argenx, Forma Therapeutics, Moderna, Novartis, Rigel and Sobi. Grants/research support from Agios, Amgen, Sobi and Vaderis Therapeutics.
    Dr Ami J Shah

    Lucile Packard Children’s Hospital Stanford, and Stanford University, Palo Alto, CA, USA

    Dr Ami J Shah is clinical professor of paediatrics in the Division of Hematology/Oncology/Stem Cell Transplantation and Regenerative Medicine at Stanford University, Palo Alto, CA, USA. read more

    Dr Shah graduated from the University of North Carolina at Chapel Hill, and completed her residency and fellowship at the Children’s Hospital, Los Angeles.

    She has been involved in gene therapy trials for many years, and has been the site principal investigator for the current pyruvate kinase deficiency gene therapy trial in the USA.

    Dr Ami J Shah discloses: Advisory board/panel fees from Bluebird Bio and Vertex (relationship terminated).
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    • Diagnostics and Screening

    An Introduction to Diagnostics and Screening

    Early detection of tumours is essential to increase the likelihood of complete remission. Screening strategies are not without risk; for example, mammography and prostate-specific antigen screening can lead to the detection of indolent lesions and subsequent overtreatment. Precision medicine has improved screening and diagnostic approaches; tumour-typing of breast tumours for oestrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 has informed treatment options. Many non-invasive diagnostic tools can be used directly at the point of care. It is hoped that advances in the genomic classification may lead to the identification of high-risk individuals in other types of cancer.

    Browse our selection of video highlights and short articles from the conference hub, which provide insights into the latest updates from major conferences, and a collection of peer-reviewed articles from the journal portfolio. These are complemented by a range of educational activities from our expert faculty, with patient outcomes at the forefront.

    Diagnostics and Screening Content

    Haematology, Diagnostics and Screening
    Watch Time: 37 mins
    touchPANEL DISCUSSION
    Navigating pyruvate kinase deficiency today: How can the disease burden and unmet treatment needs be addressed?
    CE/CME ACCREDITED Dr Rachael Grace, Dr Hanny Al-Samkari, Dr Ami J Shah

    Three experts discuss the burden and clinical presentation of pyruvate kinase deficiency, as well as current and emerging therapeutic strategies.

    Learning objectives
    Learning Objectives
    • Recognize the signs and symptoms of PK deficiency and the burden of disease in affected patients
    • Evaluate established therapeutic strategies for PK deficiency and identify remaining unmet treatment needs
    • Describe novel and emerging therapeutic strategies for PK deficiency and how they may address current unmet needs
    Haematology, Diagnostics and Screening
    Watch Time: 37 mins
    touchMDT
    Facing clinical challenges associated with paroxysmal nocturnal haemoglobinuria
    Prof. Régis Peffault de Latour, Dr Will Evans, Ms Jess Ratcliffe

    Watch a leading haematologist, a primary care physician and a patient with paroxysmal nocturnal haemoglobinuria (PNH) share their perspectives on the clinical challenges associated with PNH.

    Learning objectives
    Learning Objectives
    • Summarize the signs and symptoms of PNH and how these inform the clinical diagnosis
    • Explain the benefits and limitations of current and emerging complement inhibitor therapies for PNH
    • Explain the burden of PNH and impact on patients’ quality of life
    Diagnostics and Screening
    Targets, Therapies and the Role of Serial Biopsies for Prognostication and Assessing Changes to Tumour Biology in Oesophageal and Oesophagogastric Junction Cancers
    Michael LaPelusa, Muhammad Hashim Hayat, Michael K Gibson

    touchREVIEWS in Oncology & Haematology. 2022;18(2):107-12 DOI: https://doi.org/10.17925/OHR.2022.18.2.107

    Cancers of the oesophagus and oesophagogastric junction (OGJ), termed upper gastrointestinal (UGI) cancers, are lethal and constitute a significant public health problem. In 2020, 604,000 cases and 544,000 UGI cancer-related deaths were estimated worldwide.1 UGI cancers are the seventh most frequently diagnosed cancer and the sixth most common cause of cancer-related death.1 In the USA, there were […]

    Endocrine Cancers, Diagnostics and Screening
    Watch Time: 45 mins
    touchMDT
    Advancing the multidisciplinary management of rare and unusual NETs: Integrating new approaches to treatment and care
    CE/CME ACCREDITED Dr Diane Reidy-Lagunes, Prof. Dr med. Marianne Pavel, Dr Thomas Hope, Catherine Bouvier Ellis

    Watch leading specialists involved in the multidisciplinary care of patients with rare and unusual neuroendocrine tumours discuss new and emerging approaches for diagnosis and treatment.

    Learning objectives
    Learning Objectives
    • Recognize the role of the MDT in addressing diagnostic and treatment challenges associated with rare and unusual neuroendocrine tumours (NETs)
    • Evaluate the factors guiding treatment selection and clinical management decisions in rare and unusual NETs
    • Appraise the efficacy and safety of new and emerging treatment options for rare and unusual NETs
    Breast Cancer, Diagnostics and Screening
    Watch Time: 41 mins
    touchPANEL DISCUSSION
    New horizons in high-risk HR+ HER2- EBC: Risk stratification for early identification and novel treatment strategies
    CE/CME ACCREDITED Dr Carlos Barrios, Prof. Dr. med. Nadia Harbeck, Prof. Chiun-Sheng Huang Translations available:

    Watch leading breast cancer specialists share their perspectives on risk stratification and future therapies in HR+ HER2- early breast cancer.

    Learning objectives
    Learning Objectives
    • Apply appropriate risk assessment and stratification strategies to predict patients’ likely risk of disease recurrence
    • Evaluate the latest guidelines and treatment options for the management of high-risk HR+ HER2- early breast cancer and assess the remaining unmet need
    • Interpret the evidence for novel therapeutic options for high-risk HR+ HER2- early breast cancer
    Diagnostics and Screening, Head and Neck Cancer, Supportive Cancer Care
    Watch Time: 41 mins
    touchEXPERT OPINIONS
    Personalized treatment of RET-altered thyroid cancers: What is the value of biomarker testing and targeted therapies?
    CE/CME ACCREDITED Prof. Maria Cabanillas, Dr Vivek Subbiah, Dr Lori Wirth

    Leading experts explain the value of biomarker testing and targeted therapies for the personalized treatment of RET-altered thyroid cancers

    Learning objectives
    Learning Objectives
    • Distinguish between different types of thyroid cancers and describe therapies that are appropriate for their management
    • Plan a personalized approach to treatment of RET-altered thyroid cancers, including use of biomarker testing and novel targeted therapies
    • Evaluate the clinical trial data for novel targeted therapies for RET-altered thyroid cancers and apply it to clinical practice
    Diagnostics and Screening, Head and Neck Cancer, Supportive Cancer Care
    Watch Time: 49 mins
    touchMDT
    Implementing a personalized approach to treatment of thyroid cancer: the importance of biomarker testing and targeted therapies
    CE/CME ACCREDITED Dr Lori Wirth, Dr Peter Sadow, Dr Antonio Matrone, Ms Tara Hurley Translations available:

    Watch leading specialists within an MDT discuss the importance of biomarker testing and targeted therapies for personalizing management of thyroid cancer

    Learning objectives
    Learning Objectives
    • Distinguish between different types of thyroid cancers and identify appropriate therapies for their management
    • Plan for the use of precision medicine in thyroid cancer, including implementation of biomarker testing and use of novel targeted therapies
    • Evaluate the clinical trial data for novel targeted therapies for thyroid cancer and translate it into clinical practice
    Diagnostics and Screening
    Criteria for Evaluating Multi-cancer Early Detection Tests
    Glenn D Braunstein, Joshua J Ofman

    touchREVIEWS in Oncology & Haematology. 2021;17(1):3-6 DOI: https://doi.org/10.17925/OHR.2021.17.1.3

    Somatic DNA mutational analysis has transformed how we characterize existing cancer and select treatments. For example, circulating tumour cell-free DNA (cfDNA) can be used to select targeted therapies, monitor treatment response and detect disease recurrence.1 However, early attempts with targeted sequencing of circulating tumour cfDNA to screen for multiple cancers were unsuccessful because of low sensitivity […]

    Diagnostics and Screening
    Isabel T Rubio, European Cancer Summit 2020 – Primary Prevention Network

    Dr Isabel T Rubio, Co-Chair of the European Cancer Organisation Primary Prevention Network, joins us to discuss outcomes of this year’s European Cancer Summit and the resolutions to improve screening and early detection of cancer across Europe. Questions How do you expect the cancer burden in Europe to change in the coming years, and is […]

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