Gareth Baynam | Undiagnosed Disease | Best Researcher Award

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Mr. Gareth Baynam | Undiagnosed Disease | Best Researcher Award

Medical Director at Rare Care Centre, Perth Children’s Hospital, Australiađź“–

Dr. Gareth Baynam is a globally recognized Clinical Professor and Clinical Geneticist renowned for his leadership in rare diseases, precision public health, and translational genomic medicine. With a distinguished career spanning over two decades, he combines clinical excellence with innovative research to transform equitable healthcare delivery. As the Founder of Cliniface and Medical Director of the Rare Care Centre, Dr. Baynam is at the forefront of integrating advanced genomic data with community-focused health strategies to improve outcomes for children, youth, and Indigenous populations with rare diseases.

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Education Background🎓

  • MBBS (Medicine), University of Western Australia, 1997
  • DCH (Paediatrics), University of Western Australia, 1999
  • FRACP (Medicine), Royal Australian College of Physicians, 2001
  • PhD (Vaccine Genetics), University of Western Australia, 2008
  • A/FAIDH (Informatics), Australian College of Health Informatics, 2020

Professional Experience🌱

Dr. Baynam currently serves as a Clinical Professor at the University of Western Australia and holds multiple prestigious appointments, including:

  • Clinical Geneticist, Genetic Services of Western Australia (since 2008): Delivering expert clinical care and advancing genetic research in the state.
  • Founder, Cliniface (since 2015): Pioneering innovative digital solutions for clinical genetics to improve diagnostic accuracy for rare diseases.
  • Medical Director, Rare Care Centre (since 2022): Leading initiatives to enhance care for patients with rare diseases across Western Australia.
  • Adjunct and Honorary Positions: Including roles at Curtin University, University of Notre Dame Australia, and advisory memberships with national and international networks such as the Undiagnosed Diseases Network International and Orphanet Australia.
  • Former Roles: His previous appointments include Clinical Associate Professor and Raine Clinician Research Fellow at the University of Western Australia, where he significantly contributed to clinical research and the implementation of health innovations.
Research Interests🔬

Dr. Baynam is passionate about advancing translational science and transforming healthcare delivery through precision public health. His research interests include:

  • Rare Diseases & Precision Health: Improving diagnosis and care through innovative genomic and translational research.
  • Equitable Health Innovation: Leveraging ancient and modern data, community engagement, and multi-stakeholder partnerships to address the needs of underrepresented populations, including children, youth, and Indigenous communities.
  • Genomic Policy and Clinical Implementation: Advising at national, supranational, and global levels on integrating scientific advances into effective health system practices.

Author Metrics

  • Publications: Dr. Baynam is a prolific author with influential contributions published in top-tier journals such as Cell, Nature Genetics, Lancet Global Health, and Nature Reviews Drug Discovery.
  • Citation Impact: His research work is widely cited, reflecting the global impact of his findings on rare diseases and precision public health.
  • H-index: Demonstrates a robust record in academic research, underscoring his leadership and influence in genomic medicine and healthcare innovation.
Awards and Honors
  • Western Australia Minister for Health’s Award (2019): Recognized for significant and sustainable contributions to community health through equitable innovation in genetic and rare diseases.
  • Honorary Lifetime Membership of the Genetic and Rare Diseases Network WA (GaRDN) (2018): Honored for extraordinary collaborative efforts and impactful contributions to the field.
  • Finalist, Premiers Science Awards (2019): Acknowledged for groundbreaking research in rare diseases.
  • Finalist, Channel 7 Child Health Hero (2024): Celebrated for his commitment to improving pediatric health outcomes.
  • Finalist, NMHS NAIDOC Award (2024): Recognized for his contributions to Aboriginal health and precision public health initiatives.
Publications Top Notes đź“„

1. The Human Phenotype Ontology in 2021

  • Authors: S. Köhler, M. Gargano, N. Matentzoglu, L.C. Carmody, D. Lewis-Smith, et al.
  • Journal: Nucleic Acids Research
  • Volume & Issue: 49 (D1)
  • Pages: D1207–D1217
  • Year: 2021
  • Citations: 860
  • Summary:
    This publication presents the latest update of the Human Phenotype Ontology, detailing the expansion and refinement of the HPO knowledge base. It highlights improvements in annotation, data integration, and resource accessibility, which are critical for advancing clinical genomics and rare disease diagnostics.

2. Expansion of the Human Phenotype Ontology (HPO) Knowledge Base and Resources

  • Authors: S. Köhler, L. Carmody, N. Vasilevsky, JOB Jacobsen, D. Danis, J.P. Gourdine, et al.
  • Journal: Nucleic Acids Research
  • Volume & Issue: 47 (D1)
  • Pages: D1018–D1027
  • Year: 2019
  • Citations: 739
  • Summary:
    This study focuses on the significant expansion of the HPO, detailing the integration of new phenotype terms and the enhancement of resource functionalities. These improvements support more accurate clinical interpretations and facilitate the diagnosis of rare genetic disorders.

3. The Human Phenotype Ontology in 2017

  • Authors: S. Köhler, N.A. Vasilevsky, M. Engelstad, E. Foster, J. McMurry, S. AymĂ©, et al.
  • Journal: Nucleic Acids Research
  • Volume & Issue: 45 (D1)
  • Pages: D865–D876
  • Year: 2017
  • Citations: 652
  • Summary:
    This earlier version of the HPO outlines the foundational framework and initial development of the ontology. It set the stage for subsequent enhancements by establishing core phenotype classifications and standardizing annotations used in clinical and research settings.

4. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

  • Authors: K.M. Boycott, A. Rath, J.X. Chong, T. Hartley, F.S. Alkuraya, G. Baynam, et al.
  • Journal: The American Journal of Human Genetics
  • Volume & Issue: 100 (5)
  • Pages: 695–705
  • Year: 2017
  • Citations: 439
  • Summary:
    This collaborative study emphasizes the importance of international partnerships in the diagnostic process for rare genetic diseases. It discusses innovative strategies and coordinated efforts that aim to bring a diagnosis to every individual affected by rare disorders, thereby improving patient outcomes worldwide.

5. How Many Rare Diseases Are There?

  • Authors: M. Haendel, N. Vasilevsky, D. Unni, C. Bologa, N. Harris, H. Rehm, et al.
  • Journal: Nature Reviews Drug Discovery
  • Volume & Issue: 19 (2)
  • Pages: 77–78
  • Year: (Year not specified)
  • Citations: 432
  • Summary:
    This commentary provides an overview of the scope and diversity of rare diseases, highlighting the challenges in defining and quantifying rare conditions. It discusses the implications for research, drug discovery, and healthcare policy, emphasizing the need for robust data integration and standardized diagnostic frameworks.

Conclusion

Dr. Gareth Baynam is an exemplary candidate for the Best Researcher Award. His visionary leadership in the realm of undiagnosed and rare diseases, combined with a robust publication record and impactful clinical innovations, has redefined how precision public health is implemented. By continuing to forge interdisciplinary partnerships and expanding the reach of his research, Dr. Baynam is poised to further revolutionize diagnostic strategies and healthcare delivery for the most vulnerable populations.

In summary, his remarkable contributions, sustained excellence in research, and transformative impact on healthcare make him a highly deserving recipient of the Best Researcher Award.

Mohammad Javad Rasaee | Assay development | Excellence in Innovation

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Prof. Mohammad Javad Rasaee | Assay development | Excellence in Innovation

Faculty memebr at Tarbiat Modares Uninersity, Iranđź“–

Dr. Mohammad Javad Rasaee is a distinguished professor in the Department of Medical Biotechnology and Biochemistry at Tarbiat Modares University, Tehran, Iran. With over three decades of academic, research, and administrative experience, he has significantly contributed to the fields of medical biotechnology and clinical biochemistry. Dr. Rasaee’s pioneering work has earned him numerous national and international accolades, including the Razi Research Festival Prize and several awards for groundbreaking research in drug abuse detection, cancer therapies, and nanotechnology. He has also served as an advisor and director in key national scientific bodies and continues to mentor the next generation of researchers.

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Education Background🎓

Dr. Rasaee holds a Ph.D. in Biochemistry with a specialization in Bioorganic Chemistry from Delhi University, India (1990), an M.Sc. in Chemistry (Honors) from Jamia Millia Islamia, Delhi, India (1987), and a B.Sc. in Chemistry from the same institution (1984). His foundational education was completed at Jelveh High School, Tehran, where he excelled in Natural Sciences (1978).

Professional Experience🌱

Dr. Rasaee began his academic career as an Assistant Professor at Tarbiat Modares University in 1990 and has since risen to the rank of Professor in the Department of Medical Biotechnology. He has held leadership roles, including Dean of the Faculty of Medical Sciences, Director of the Biotechnology Research and Development Center, and Advisor to the Minister of Science, Research, and Technology. His research efforts have led to the development of innovative diagnostic kits, nanotechnology-based cancer treatments, and a subunit vaccine for COVID-19. Dr. Rasaee has also directed numerous national and institutional committees, significantly shaping Iran’s biotechnological and scientific landscape.

Research Interests🔬

Dr. Rasaee’s research focuses on the development of diagnostic tools, cancer therapeutics, and nanobiotechnology. He has led innovative projects in immunochemical assay development, rapid detection kits for biomarkers, nanogold-based photothermal cancer treatment, and subunit vaccines for infectious diseases. His recent work includes the development of recombinant ACEII for therapeutic applications and biomarker identification for early cancer detection.

Author Metrics

Dr. Rasaee has published extensively in reputable journals, with a significant focus on immunochemistry, biotechnology, and nanotechnology applications in medicine. His research output includes several high-impact articles, and he serves on the editorial boards of prominent scientific journals such as the Iranian Journal of Biotechnology and Iranian Journal of Asthma, Allergy, and Immunology. His contributions to science are widely recognized, reflected in his citation metrics and continued collaborations in cutting-edge research.

Publications Top Notes đź“„

1. Modified Salting-Out Method: High-Yield, High-Quality Genomic DNA Extraction from Whole Blood Using Laundry Detergent

  • Authors: H. Nasiri, M. Forouzandeh, M.J. Rasaee, F. Rahbarizadeh
  • Journal: Journal of Clinical Laboratory Analysis
  • Year: 2005
  • Volume: 19
  • Issue: 6
  • Pages: 229-232
  • DOI: 10.1002/jcla.20063
  • Abstract: This paper presents a modified salting-out method for genomic DNA extraction from whole blood using laundry detergent. The method significantly improves DNA yield and quality, making it highly suitable for clinical and research applications in genetics.
  • Citations: 237

2. Overexpression of Anti-MUC1 Single-Domain Antibody Fragments in the Yeast Pichia pastoris

  • Authors: F. Rahbarizadeh, M.J. Rasaee, M. Forouzandeh, A.A. Allameh
  • Journal: Molecular Immunology
  • Year: 2006
  • Volume: 43
  • Issue: 5
  • Pages: 426-435
  • DOI: 10.1016/j.molimm.2005.06.008
  • Abstract: This study investigates the overexpression of anti-MUC1 single-domain antibody fragments in Pichia pastoris. The work explores the potential of yeast-based systems for producing therapeutic antibody fragments, which are pivotal for cancer immunotherapy targeting MUC1.
  • Citations: 121

3. Radiosensitization Effect of Folate-Conjugated Gold Nanoparticles on HeLa Cancer Cells Under Orthovoltage Superficial Radiotherapy Techniques

  • Authors: K. Khoshgard, B. Hashemi, A. Arbabi, M.J. Rasaee, M. Soleimani
  • Journal: Physics in Medicine & Biology
  • Year: 2014
  • Volume: 59
  • Issue: 9
  • Page: 2249
  • DOI: 10.1088/0031-9155/59/9/2249
  • Abstract: This research explores the radiosensitization effect of folate-conjugated gold nanoparticles on HeLa cancer cells under orthovoltage superficial radiotherapy. The study demonstrates the ability of these nanoparticles to enhance the efficacy of radiation therapy, offering new strategies in cancer treatment.
  • Citations: 118

4. Production and Characterization of Anti-(Mucin MUC1) Single-Domain Antibody in Tobacco (Nicotiana tabacum Cultivar Xanthi)

  • Authors: A. Ismaili, M. Jalali-Javaran, M.J. Rasaee, F. Rahbarizadeh
  • Journal: Biotechnology and Applied Biochemistry
  • Year: 2007
  • Volume: 47
  • Issue: 1
  • Pages: 11-19
  • DOI: 10.1042/BA20060109
  • Abstract: The paper reports on the production of anti-MUC1 single-domain antibodies in tobacco plants (Nicotiana tabacum). This approach provides a novel, cost-effective method for producing therapeutic antibodies using plant expression systems.
  • Citations: 84

5. Selection of DNA Aptamers Against Human Cardiac Troponin I for Colorimetric Sensor-Based Dot Blot Application

  • Authors: G.S. Dorraj, M.J. Rasaee, A.M. Latifi, B. Pishgoo, M. Tavallaei
  • Journal: Journal of Biotechnology
  • Year: 2015
  • Volume: 208
  • Pages: 80-86
  • DOI: 10.1016/j.jbiotec.2015.02.014
  • Abstract: This paper discusses the selection of DNA aptamers against Human Cardiac Troponin I for the development of a colorimetric sensor-based dot blot assay. The findings highlight the potential of aptamers in early diagnosis of heart-related conditions.
  • Citations: 80

Conclusion

Dr. Mohammad Javad Rasaee’s career demonstrates a profound commitment to excellence and innovation in medical biotechnology. His pioneering contributions to diagnostics, cancer therapy, and nanobiotechnology position him as an exemplary candidate for the Research for Excellence in Innovation award. While there are opportunities to further enhance his work through broader international collaborations and commercialization efforts, his already significant impact in these fields marks him as a leader whose continued innovations will shape the future of medical science. Recognizing him for this award would further encourage his contributions to the advancement of global healthcare.