A missing step in a metabolic pathway leads to the build-up of toxic compounds, and the lack of materials essential for normal function. Professor Wyatt Yue explores how genetic defects lead to disease at the molecular level, by determining 3D structures and biochemical properties of enzymes and protein complexes linked to congenital genetic errors. Professor Yue works closely with clinicians and paediatricians to decipher the underlying genetic, biochemical and cellular mechanisms of these diseases. His long-term aim is to help design novel therapeutic approaches for metabolic diseases. Creative Commons Attribution-Non-Commercial-Share Alike 2.0 UK: England & Wales; http://creativecommons.org/licenses/by-nc-sa/2.0/uk/

The genetics of metabolic diseases

Research in Medicine needs to ultimately translate into better treatment of patients. Researchers at the Nuffield Department of Medicine, University of Oxford, collaborate to develop better care and improved preventive measures. Findings in the laboratory are translated into changes in clinical practice, from Bench to Bedside.

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Adopting a critical perspective, Dr Orsolya Ihasz outlines what makes social enterprisers valuable, and how could they contribute to the creation of important services and products to marginalised and disenfranchised communities. The urgency of global concerns such as health inequality, poverty and education demand rapid intervention. The role of social enterprises are key to addressing today's social challenges and promoting impact-driven innovation designed to create long term societal impact.
Dr Orsolya Ihasz is a Senior Lecturer in Entrepreneurship at the Cranfield School of Management and a Fellow at the Foundation for Science and Technology. Her research interest focuses on (responsible) innovation management and social impact measurement especially in public health. She acts as programme lead to Ideas to Innovation (i2i) aimed at the researchers and early-career researcher community across discipline to support entrepreneurial ventures geared towards finding solutions to Sustainable Development Goals (SDGs). She is also an external advisor to the WHO on the scaling digitally enabled health interventions for tackling NCDs globally. Creative Commons Attribution-Non-Commercial-Share Alike 2.0 UK: England & Wales; http://creativecommons.org/licenses/by-nc-sa/2.0/uk/

Social enterprisers and their role in addressing future challenges

Dr Brian Adu Asare discusses Health Technology Assessment (HTA) using Ghana as a case study. HTA is pivotal in informing healthcare decision-making. It is a tool which helps in ensuring effective resource allocation and optimizing health outcomes. In resource-constrained settings, such as Ghana, the institutionalization, conduct, and uptake of HTA seeks to contribute to maximizing outcomes with limited resources. In Ghana, HTA's institutionalization has been marked by the establishment governance structures, strategies, and processes as well as the integration of HTA principles into health policies. However, the process has faced challenges, including limited expertise and financial constraints. Capacity-building initiatives, such as training programs and international collaborations, have been instrumental in addressing these barriers.

Dr Brian Adu Asare is the Head of Health Technology Assessments (HTA) in Ghana and a Senior Technical Officer at the Pharmacy Directorate of the Ghana Ministry of Health. He also heads the National Drug Information, Research and Monitoring and Evaluation Unit of the Ministry of Health under the Pharmacy Directorate. He joined mainstream health policy in 2008 at the Ghana National Drugs Programme, and currently advices on technical issues in relation to pharmaceuticals in the Ghana Ministry of Health.

He has led and contributed to several technical initiatives in:

  *   Institutionalization and operationalization of Health Technology Assessment (HTA) in Ghana
  *   Evidence-based medicine (EBM)
  *   Pricing systems, Health systems strengthening, Antimicrobial resistance (AMR) and health information systems
  *   Formulation and review of National Medicines Policy
  *   Development and review of Standard Treatment Guidelines (STG) and Essential Medicines Lists (EML) including COVID-19 treatment guidelines for Ghana.

He currently serves on the:

  *   National Medicines Selection Committee
  *   National Medicines Price Committee
  *   National AMR policy platform
  *   National Medicines Policy Technical Working Group, among others.

Health Technology Assessment (HTA) in Resource-Constrained Settings: A Case Study of Ghana

Dr Janjira Thaipadungpanit from our MORU unit in Bangkok, Thailand, tells us about her research on molecular diagnosis and bacterial genotyping A molecular microbiologist, Dr Janjira’s research focusses on using bacterial typing based on genome to confirm which disease is present in a patient. She aims to develop a single whole genome sequence type test using mutliple-PCR assays that can determine from a single sample of blood what bacteria or viruses are present in a patient’s blood – thereby speeding up diagnosis and potentially saving lives in resource-limited settings. 
Head of Molecular Microbiology at MORU, Dr Janjira Thaipadungpanit’s research interests include the molecular epidemiology of leptospirosis and melioidosis using multilocus sequence typing or genome data and molecular diagnosis to identify the causes of acute febrile illness and sepsis in patients. Creative Commons Attribution-Non-Commercial-Share Alike 2.0 UK: England & Wales; http://creativecommons.org/licenses/by-nc-sa/2.0/uk/

Molecular diagnosis and bacterial genotyping

Dr Markus Winterbert from our MORU unit in Bangkok, Thailand, tells us about his research on biomarkers for tropical diseases Having a background in malaria physiology and biochemistry, Markus Winterberg’s research focus is on the interaction between host, pathogen and drug, the metabolism of antimalarial drugs and discovering biomarkers for tropical diseases. Markus aims to use these biomarkers to develop non-invasive, field-based rapid diagnostic tests for tropical diseases that quickly identify pathogens, thereby improving diagnostics and the treatment of patients. 
Dr Markus Winterberg is Head of Laboratory and a Principal Investigator in MORU’s Department of Clinical Pharmacology. The key aspect of his research is ‘trop-med-omics’, the application of mass spectrometry-based bioanalysis in tropical medicine, particularly using proteomics and metabolomics to identify a disease in a patient. Creative Commons Attribution-Non-Commercial-Share Alike 2.0 UK: England & Wales; http://creativecommons.org/licenses/by-nc-sa/2.0/uk/

Biomarkers for tropical diseases

Premjit Amornchai from our MORU unit in Bangkok, Thailand, tells us about her work as biosafety level 3 lab manager and microbioogy safety officer To prevent relapse or reinfection, melioidosis requires a specific and prolonged treatment. Melioidosis is endemic at least 45 countries, but greatly under-reported, with a microbiological culture required to confirm diagnosis. This can take 2-7 days. In Thailand, up to 40 percent of hospital admitted melioidosis patients die. Premjit works with MORU researchers who have produced a rapid diagnostic test that aims to improve both diagnosis and public awareness of melioidosis.
Microbiologist Premjit Amornchai heads MORU’s Bio-Safety Level (BSL) 3 Laboratory in Bangkok, Thailand. Safety is very important for Premjit. The BSL3 Lab handles several dangerous materials, most notably, Burkholderia pseudomallei, a highly pathogenic bacterium commonly found in soil and water in Southeast Asia and northern Australia. The pathogen causes the difficult to diagnose, deadly bacterial infection melioidosis. Creative Commons Attribution-Non-Commercial-Share Alike 2.0 UK: England & Wales; http://creativecommons.org/licenses/by-nc-sa/2.0/uk/

The genetics of metabolic diseases

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