Functional Assays for Variant Pathogenicity Professors and Supervisors

Joel MackayView profile

Professor

University of SydneyAustralia

Professor Joel Mackay is a physical biochemist at the University of Sydney, where he holds the Chair of the Biochemistry, Molecular and Cell Biology cluster in the School of Life and Environmental Sciences and serves as President of the Australian Society for Biochemistry and Molecular Biology. Since arriving in 1995 he has built an internationally recognised laboratory focused on protein structure–function, gene regulation and designer peptide engineering, supported by ~$30 M of competitive funding. Education: PhD — University of Cambridge, UK (1994) Research interests: The Mackay group deciphers how proteins work at the molecular level, concentrating on two synergistic themes: Molecular mechanisms that govern eukaryotic gene expression, with emphasis on transcription factors, chromatin remodelers (CHD4/NuRD), epigenetic modifications and zinc-finger domains. Exploitation of cutting-edge library-display technologies to create bespoke peptides and mini-proteins that modulate challenging therapeutic targets such as BET bromodomains. Methodologically the lab integrates molecular biology, cell biology, biophysics and structural techniques (NMR, X-ray crystallography, SPR, AUC, MST, XL-MS) and has access to 600 & 800 MHz NMR, crystallisation, fermentation and proteomics facilities. Major discoveries: First demonstration that zinc-finger domains can act as protein–protein interaction modules, overturning the dogma that they bind only nucleic acids. Elucidation of how acetylation of the transcription factor GATA1 recruits the epigenetic reader BRD3, providing early mechanistic insight into post-translational control of transcription factors. Structural and functional characterisation of AHSP, the long-sought chaperone for α-globin, illuminating molecular bases of β-thalassemia and sickle-cell disease. Scientific honours: Biophysics Young Investigator Award 1997 Roche Molecular Biochemicals Medal 2001 Science Minister’s Prize for Life Sciences (under 35) 2002 ANZMAG Young Investigator Medal 2002 Gottschalk Medal (AAS) 2006 Labgear Discovery Science Award 2016 ARC & NHMRC Research Fellowships (1995-2019) Leadership & grants: Prof. Mackay has secured continuous national (ARC DP, Linkage, ITTC; NHMRC Project & Program) and international (NIH R01) funding totalling ~$30 M. He currently leads a 40-member academic cluster and mentors five doctoral researchers working on epigenetic inheritance, hemoglobinopathies, pollinator protection and chromatin dynamics. Collaborations & infrastructure: Active partnerships with groups in Germany, New Zealand, the USA and the UK leverage the University of Sydney’s flagship institutes—Sydney Institute of Agriculture, Centre for Drug Discovery Innovation and Sydney Nano—to translate fundamental protein discoveries into agricultural, medical and biotechnological applications.

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Tharun SundaresanView profile

Associate Professor

Uniformed Services University of the Health SciencesUnited States

Tharun Sundaresan is an Associate Professor in the Department of Biochemistry & Molecular Biology at the Uniformed Services University of the Health Sciences (USUHS) School of Medicine in Bethesda, Maryland. His research program investigates fundamental mechanisms of mRNA decay and their implications in cancer biology and neurodevelopmental disorders. Education: Ph.D. (Life Sciences) from Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India (Affiliated to Jawaharlal Nehru University, New Delhi, India) Dr. Sundaresan's research centers on molecular mechanisms of mRNA decay , particularly the role of the Lsm1-7-Pat1 complex in mRNA decapping and stability regulation. His work bridges basic RNA metabolism with disease pathogenesis , revealing how defects in RNA processing contribute to cancer and neurodevelopmental disorders. Key methodologies include yeast genetics, zebrafish models, and biochemical analysis of RNA-protein interactions. His publication record (2005-2021) demonstrates consistent focus on Lsm protein complexes and their functions in viral replication, neurodevelopment, and mRNA turnover. The work spans molecular biology, biochemistry, and genetics with emphasis on RNA binding specificity and decay pathway mechanics. Scientific Recognition: HHMI Fellowship American Cancer Society IRG grant NIH RO1 Research project grant USUHS Exploratory grant As an educator, Dr. Sundaresan serves as Course Director for the Graduate Biochemistry program and holds a secondary appointment in the Molecular Cell Biology Graduate Program. His research program has secured sustained funding through competitive NIH and institutional grants, supporting investigations into RNA metabolism's role in human disease. Current work explores connections between LSM complex dysfunction and neurodegenerative conditions using multidisciplinary approaches.

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Alexander Paul James UnderwoodView profile

Assistant Professor

University of CopenhagenDenmark

Alexander Paul James Underwood serves as an Assistant Professor in Virology within the Department of Immunology and Microbiology at the University of Copenhagen's Faculty of Health and Medical Sciences. His research focuses on viral immunology with particular emphasis on hepatitis viruses and SARS-CoV-2. He maintains active collaborations with leading researchers including Jens Bukh and Nina Weis. Underwood's research investigates critical aspects of viral pathogenesis and immune responses. His work examines T cell exhaustion in hepatitis C virus (HCV) infection, viral evolution under immune pressure in hepatitis B, and mechanisms of SARS-CoV-2 entry and neutralization. Key research areas include viral spike protein dynamics, monoclonal antibody development, vaccine efficacy against emerging variants, and the interplay between B-cell responses and viral reinfection outcomes. Analysis of his recent publications reveals strong trends in viral immunology with significant contributions to understanding immune evasion mechanisms. His work spans multiple viral systems but maintains consistent focus on host-pathogen interactions at the molecular level, particularly regarding viral entry mechanisms, antibody neutralization, and T-cell responses. The publications demonstrate interdisciplinary approaches combining virology, immunology, and structural biology. While no specific scientific awards are listed in the available information, his research has garnered attention across multiple platforms including news outlets, social media (X, Bluesky, Reddit), and academic networks like Mendeley. Underwood actively participates in collaborative research networks, particularly with the Bukh laboratory at the University of Copenhagen. His work involves both experimental virology and computational analyses, suggesting involvement in multidisciplinary research teams focused on viral pathogenesis and immune responses. The publications indicate leadership roles in several studies examining viral evolution and immune escape mechanisms. His laboratory work appears centered on viral culture systems, particularly using Vero cells for SARS-CoV-2 adaptation, and employs advanced techniques for analyzing T-cell and B-cell responses. The research spans both basic virology investigations and translational applications for vaccine and therapeutic development.

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Jannick PrentøView profile

Associate Professor

University of CopenhagenDenmark

Jannick Prentø is an Associate Professor at the University of Copenhagen's Faculty of Health and Medical Sciences, holding joint appointments in the Department of Immunology and Microbiology (Virology section) and the Department of Biomedical Sciences (Endocrinology and Metabolism section). His research focuses on structural virology with an emphasis on hepatitis C virus (HCV) mechanisms and vaccine development. Dr. Prentø's primary research interests include the structural basis of HCV immune evasion, particularly focusing on the E2 glycoprotein and hypervariable region 1 (HVR1). His laboratory employs an integrated approach combining wet lab techniques , in silico modeling , cryo-EM , and molecular dynamics simulations to study viral entry mechanisms and neutralization. His team has made significant contributions to understanding the HCV envelope protein complex structure, recently discovering it forms an antiparallel homodimer of E1 and E2 proteins. Analysis of Dr. Prentø's publication record reveals a strong focus on HCV structural biology, immune evasion mechanisms, and vaccine development. His recent work (2022-2025) demonstrates increasing emphasis on translating structural insights into practical vaccine candidates, with multiple studies on inactivated HCV vaccines that induce broadly neutralizing antibodies. His research bridges basic structural virology with translational applications, particularly in developing cross-genotype protective immunity. As an educator, Dr. Prentø teaches virology laboratory courses for medical students and organizes a Ph.D. course on preclinical and clinical aspects of vaccine development. He has also served as a mentor in the SUND postdoc mentor program in 2022 and 2023. His laboratory specializes in integrating structural methodologies with functional viral studies, particularly focusing on how HCV's structural features enable it to switch between neutralization-sensitive and neutralization-resistant states. This work has significant implications for developing effective HCV vaccines and understanding fundamental mechanisms of viral immune evasion.

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Mamta Chawla SarkarView profile

Professor

Midwestern UniversityUnited States

Dr. Mamta Chawla Sarkar serves as Scientist G at the National Institute of Cholera and Enteric Diseases (NICED), Kolkata, leading virology research under the Indian Council of Medical Research. Her work bridges fundamental molecular studies and public health implementation through NICED's WHO Collaborating Centre designation and national surveillance networks for rotavirus and influenza. Her research expertise spans: Molecular epidemiology of enteric/respiratory viruses Host-pathogen interactomics using proteomics and RNA-seq Development of low-cost diagnostic assays Host-targeted antiviral therapeutics Recent publications reveal a strategic pivot toward lncRNA-mediated mechanisms in viral pathogenesis, with 8 of 15 recent papers exploring non-coding RNA roles in rotavirus and SARS-CoV-2 infection. The work demonstrates sophisticated integration of clinical samples from NICED's hospital collaborations with advanced OMICS platforms to identify druggable host pathways. Her scientific recognition includes: Fellowship of Indian National Science Academy (2020) DBT National Women Bioscientist Award (2013) ICMR Kanishka Oration Award (2017) Fellowships from NASI and West Bengal Academy of Science Mentorship and funding reflect sustained excellence: 21 PhD students trained (15 awarded), continuous project funding since 2006 including ICMR's Centre for Product Development (2019-2024) and DST-SERB grants. During pandemics, her lab provided critical diagnostic support while advancing mechanistic studies - exemplifying translational research impact. The laboratory operates within NICED's BSL-3 facility as part of the Virology Division, coordinating eastern India's viral disease surveillance through 12+ network laboratories. Current work focuses on lncRNA-mediated ferroptosis in rotavirus infection and HDAC6 modulation in SARS-CoV-2 replication.

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Yu ChenView profile

Professor

Midwestern UniversityUnited States

Professor Yu Chen is a Principal Investigator and Professor at Wuhan University's College of Life Sciences, leading research at the State Key Laboratory of Virology since December 2016. With a PhD in Microbiology from Wuhan University (2003-2009), Dr. Chen has established a prominent research program focused on RNA virus molecular mechanisms, particularly coronaviruses. Research interests center on viral RNA methylation processes, coronavirus replication strategies, and host-pathogen interactions. The lab investigates SARS-CoV-2 variants, viral entry mechanisms through ACE2 receptors, and development of broad-spectrum antivirals targeting RNA modification enzymes. Recent work examines interferon signaling pathways and adenovirus-related pediatric hepatitis. Publication analysis reveals consistent high-impact output with 34 documented works, including 15 publications since 2020 in journals such as Nature, PNAS, and Cell Insight. Research demonstrates strong translational impact in SARS-CoV-2 diagnostics, antiviral development, and viral transmission mechanisms. Dr. Chen serves as peer reviewer for prestigious journals including Nature Biotechnology and Nature Communications. The lab maintains active collaborations across virology research groups, with consistent co-authorship patterns indicating productive international partnerships. As Principal Investigator at the State Key Laboratory of Virology, Dr. Chen oversees research utilizing advanced BSL-3 facilities for working with live viruses, genomics platforms, and structural biology resources. The lab trains approximately 8-12 graduate students working on interconnected projects in RNA virology.

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John Humphrey AmuasiView profile

Senior Lecturer

Bernhard Nocht Institute for Tropical MedicineGermany

John Humphrey Amuasi is a distinguished academic and researcher in Global Health and Infectious Diseases. He serves as W2 Professor of Global One Health at the Bernhard Nocht Institute of Tropical Medicine and University Medical Center Hamburg-Eppendorf in Germany, and as Senior Lecturer at Kwame Nkrumah University of Science and Technology (KNUST) School of Public Health in Ghana. He also holds appointments as Honorary Visiting Research Fellow at Oxford University and Affiliate Assistant Professor at the University of Minnesota School of Public Health. Dr. Amuasi's educational background includes: Fellow West Africa College of Physicians (FWACP) - November 2021 PhD in Health Services Research and Policy with Minor in Development Studies and Social Change - University of Minnesota (2010-2014) MS in Health Services Research and Policy - University of Minnesota (2010-2013) MPH in Public Health Policy and Administration - University of Minnesota (2006-2007) MBChB - Kwame Nkrumah University of Science and Technology (2001-2004) BSc in Human Biology - Kwame Nkrumah University of Science and Technology (1997-2001) Dr. Amuasi's research spans multiple critical areas in global health, with particular focus on Malaria , Neglected Tropical Diseases (NTDs) , Antimicrobial Resistance (AMR) , and One Health approaches. His work integrates clinical and field epidemiology to address pressing health challenges in low- and middle-income countries. He has established expertise in infectious disease surveillance, outbreak response, and health systems strengthening, with significant contributions to understanding the epidemiology of emerging pathogens including SARS-CoV-2. His research methodology combines traditional epidemiological approaches with innovative digital health solutions to improve disease detection and management. Analysis of his recent publications reveals a strong emphasis on pandemic response research, particularly regarding SARS-CoV-2 seroprevalence in African populations, clinical characterization of infections, and vaccine hesitancy in sub-Saharan Africa. His work demonstrates interdisciplinary integration across virology, epidemiology, public health policy, and clinical medicine, reflecting the One Health approach that characterizes his professional identity. Dr. Amuasi has received numerous prestigious awards recognizing his contributions to public health, including: 2022 Alumni Award of Merit for professional excellence in Public Health from University of Minnesota April 2023 Service and Innovation Excellence Award from KNUST College of Health Sciences July 2022 Research Excellence Award from KNUST College of Health Sciences Election to the Delta Omega Honorary Society in Public Health (Pi Chapter) Multiple scholarships and awards from the University of Minnesota during his graduate studies As an academic mentor, Dr. Amuasi has supervised numerous graduate students across multiple institutions, guiding doctoral research on topics ranging from malaria diagnostics to snakebite management. His grant portfolio includes significant funding from international organizations including the German Center for Infection Research (DZIF), Wellcome Trust, and the European and Developing Countries Clinical Trials Partnership (EDCTP). He serves as Principal Investigator for multiple studies on infectious diseases, including several clinical trials for malaria and COVID-19 treatments. Dr. Amuasi leads the Global One Health Research Group at the Kumasi Center for Collaborative Research in Tropical Medicine (KCCR) and serves as Executive Director of the African Research Network for Neglected Tropical Diseases. Through the ALERRT network, he coordinates research on clinical characterization of infectious diseases across multiple African countries. His leadership extends to global initiatives including co-chairing The Lancet One Health Commission and serving on WHO advisory committees for pandemic response.

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Thea Klarsø SchulzeView profile

Research Fellow

University of CopenhagenDenmark

Thea Klarsø Schulze holds multiple research positions at the University of Copenhagen: Postdoc, PhD fellow, and Guest Researcher in the Department of Biology, specifically within the Biomolecular Sciences section of the Faculty of Science. Based in Copenhagen, Denmark, she conducts cutting-edge research at the intersection of molecular biology and genetics, focusing on protein behavior and genetic variants. Currently, she is finalizing her PhD thesis, "Understanding and predicting effects of residue substitutions on the cellular abundance of proteins" (2025), which forms the foundation of her expertise in protein biochemistry. Her doctoral work leverages advanced computational and experimental techniques to model how amino acid changes affect protein levels in cells. Her research program centers on elucidating the molecular mechanisms underlying genetic disorders through the study of protein variants. Key areas include enzyme kinetics (particularly glucokinase), deep mutational scanning, and the correlation between protein degradation pathways and cellular toxicity. This work has direct implications for understanding metabolic diseases and neurodegenerative conditions such as Canavan disease. In 2024, she co-authored two high-impact publications in Genome Biology and Nature Communications, demonstrating her ability to bridge experimental biology with computational analysis. These studies showcase innovative multiplexed assays for quantifying variant effects and large-scale investigations into the relationship between protein stability and pathogenicity. Within the Department of Biology, she collaborates closely with the research group led by Professors Lindorff-Larsen and Hartmann-Petersen, contributing to a dynamic team environment focused on biomolecular structure-function relationships and disease mechanisms.

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Henrik Nyhus KløverprisView profile

Associate Professor

University of CopenhagenDenmark

Henrik Nyhus Kløverpris is an Associate Professor in the Department of Immunology and Microbiology at the University of Copenhagen's Faculty of Health and Medical Sciences. He also holds faculty positions at the Africa Health Research Institute (AHRI) in Durban, South Africa, and is affiliated with the Sir Henry Dale Wellcome Trust at University College London. His research focuses on the mechanisms underlying gut immune reconstitution following HIV infection and damage. Dr. Kløverpris earned his PhD in Immunology (HIV) from Oxford University (2007-2011) while also being affiliated with the University of Copenhagen. He completed his MSc in Immunology (2004-2007) and BSc in Microbiology (2001-2003), both at the University of Copenhagen. His primary research investigates how gut homeostasis is disrupted in people living with HIV (PLWH) and the implications for non-communicable diseases as the aging HIV-positive population on antiretroviral therapy enters higher-risk age groups. The Kloverpris laboratory has developed unique human tissue cohorts in high HIV prevalence areas of South Africa to study intestinal mucosal and lymphoid tissues. His work bridges clinical medicine and basic science to generate high-impact, clinically relevant discovery science that addresses health challenges in low-middle income settings. Analysis of his recent publications reveals a strong focus on HIV immunology, particularly examining CD8+ T cell responses, immune reconstitution, and the intersection of HIV with other pathogens like SARS-CoV-2 and Mycobacterium tuberculosis. His research frequently employs advanced techniques including flow cytometry and biomimetic models to investigate immune cell function in mucosal tissues. Scientific Awards: Wellcome Trust, Henry Dale Wellcome Trust Fellow (2016-2022) Danish Council for Independent Research, Sapere Aude (2015-2016) Danish Council for Independent Research Post doc fellowship (2012-2015) Dr. Kløverpris has secured significant research funding including NIH grants as Co-I and Co-PI, AHRI grants as PI, and funding from the South African Network for TB&HIV Excellence, Lundbeck Foundation, and MAERSK. His work has led to numerous invited speaking engagements at international conferences including the Australian Centre for HIV and Hepatitis Virology, Human Cell Atlas Africa Symposium, and Wellcome Trust Meetings. The Kloverpris laboratory operates at the intersection of the University of Copenhagen and Africa Health Research Institute, creating a unique research environment that leverages well-characterized human tissue cohorts from areas with the highest HIV prevalence in the world. This global collaboration enables groundbreaking research on HIV pathogenesis and immune function in resource-limited settings.

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