Albina Tummolo | Medicine and Health Sciences | Best Researcher Award

Dr. Albina Tummolo | Medicine and Health Sciences | Best Researcher Award

Albina Tummolo at Children Hospital Giovanni XXIII, Italy.

Dr. Albina Tummolo is an accomplished pediatrician specializing in metabolic and genetic disorders. With over two decades of clinical and academic experience, she has built a significant profile in managing and researching rare pediatric diseases. Based at the Policlinico of Bari, she combines patient care with academic research, national coordination roles, and continuous engagement with international advisory boards. Dr. Tummolo is also an active educator, teaching at several Italian universities and training healthcare professionals in hereditary metabolic diseases. Her work has shaped protocols and policies for improved pediatric metabolic care in Italy.

Publication Profile

Orcid

Education

Dr. Albina Tummolo earned her Degree in Medicine and Surgery from the University of Foggia in 2002 and completed her Specialization in Pediatrics (General and Specialist) at the University of Bari in 2007. She holds multiple postgraduate certifications in specialized pediatrics, infectivity, rheumatology, and rare diseases from the University of Bari and the University of Florence. She furthered her academic credentials with an MSc in Clinical Pediatrics from University College London in 2008 and a PhD in Pediatric Sciences from the University of Bari in 2011. In 2023, she completed an MSc in Epidemiology and Biostatistics at Università Cattolica di Roma.

Experience

Dr. Tummolo currently serves as a Senior Pediatrician at the Ospedale Pediatrico “Giovanni XXIII” in Bari, within the Unit of Metabolic and Genetic Diseases, a role she has held since 2015. She has also worked as a senior pediatrician at the Azienda Ospedaliera di Padova and Presidio Ospedaliero “Perrino” dell’ASL di Brindisi. She is a registered physician with the Order of Physicians and Surgeons of Bari (License No. 5742, since September 18, 2003).

Dr. Tummolo has extensive experience leading and participating in clinical trials and observational studies focused on inborn errors of metabolism, lysosomal storage disorders, and rare genetic conditions, often acting as Principal Investigator or Scientific Coordinator. She serves as a member and secretary of national expert committees and advisory boards and contributes to shaping diagnostic and therapeutic strategies for metabolic disorders in Italy and Europe.

Research Focus

  • Inborn errors of metabolism and rare genetic diseases

  • Lysosomal storage disorders (including LAL-D, Gaucher disease, and alpha-mannosidosis)

  • Phenylketonuria (PKU) and organic acidurias

  • Neonatal screening programs

  • Epidemiology and real-world evidence in pediatric metabolic disorders

  • Nutritional and enzyme replacement therapies in pediatric populations

Author Metrics & Scientific Contributions

  • Principal Investigator in multiple national and international clinical trials

  • Scientific Member of the Telethon Undiagnosed Diseases Program (TUDP) and E-HOD

  • Coordinator/Advisor for over 30 expert boards and working groups, including SIMMESN

  • Co-author of educational and clinical monographs, including:

    • “Inherited Metabolic Disorders Neonatal Screening” (2014)

    • Educational booklets on MSUD, TYR, HCU, MMA/PA, GA, IVA, and PKU (2020–2022)

    • Springer Healthcare Monography (2025) on velmanase alfa treatment in alpha-mannosidosis

She has contributed substantially to national consensus statements, educational masterclasses, and international forums on metabolic disease management.

Publication Top Notes

1. Exploring Partners, Parenting and Pregnancy Thinking in Late Adolescents and Young Adults with Inherited Metabolic Disorders

📅 Pediatric Reports, May 2025
🔗 DOI: 10.3390/pediatric17030056
👩‍🔬 Contributors: Albina Tummolo, Giulia Paterno, Rosa Carella, Livio Melpignano, Donatella De Giovanni
Focus: Examines reproductive health perspectives in adolescents and young adults affected by inherited metabolic disorders.

2. Growth Parameters and Prevalence of Obesity in PKU Patients and Peers: Is This the Right Comparison?

📅 Pediatric Reports, October 2024
🔗 DOI: 10.3390/pediatric16040076
👩‍🔬 Contributors: Giulia Paterno, Vito Di Tullio, Rosa Carella, Giada De Ruvo, Fabrizio Furioso, Aleksandra Skublewska-D’Elia, Donatella De Giovanni, Albina Tummolo
Focus: Investigates obesity prevalence among patients with phenylketonuria (PKU) versus healthy peers.

3. Intake Modalities of Amino Acid Supplements: A Real-World Data Collection from Phenylketonuria Patients

📅 Nutrients, February 2024
🔗 DOI: 10.3390/nu16050669
👩‍🔬 Contributors: Albina Tummolo, Rossella Carella, Pasquale Carone, Giulia Paterno, Donatella De Giovanni
Focus: Real-world insights into how PKU patients consume amino acid supplements.

4. CHAMP1-related Disorders: Pathomechanisms Triggered by Different Genomic Alterations Define Distinct Nosological Categories

📅 European Journal of Human Genetics, 2023
🔗 DOI: 10.1038/S41431-023-01305-Z
🔍 WOSUID: WOS:000939855800002
👩‍🔬 Contributors: Amenta S., Marangi G., Orteschi D., Frangella S., Gurrieri F., Paccagnella E., Scala M., Romano F., Capra V., Nigro V., et al.
Focus: Differentiates clinical categories of CHAMP1-related disorders based on genomic mechanisms.

5. Long-term Safety and Efficacy of Velmanase Alfa Treatment in Children Under 6 Years of Age with Alpha-Mannosidosis: A Phase 2, Open Label, Multicenter Study

📅 Journal of Inherited Metabolic Disease, 2023
🔗 DOI: 10.1002/JIMD.12602
🔍 WOSUID: WOS:000948401000001
👩‍🔬 Contributors: Guffon N., Konstantopoulou V., Hennermann J.B., Muschol N., Bruno I., Tummolo A., Ceravolo F., Zardi G., Ballabeni A., Lund A.
Focus: Evaluates velmanase alfa’s therapeutic profile in pediatric alpha-mannosidosis patients.

Conclusion

Dr. Albina Tummolo exemplifies the core values of the Best Researcher Award in Medicine and Health Sciences through her compassion-driven pediatric care, trailblazing research, and influence on national health systems. Her unique blend of clinical depth, academic rigor, and policy impact makes her an ideal candidate for this recognition.

She not only advances medical science but also improves the lives of children with rare diseases—one diagnosis, one protocol, and one family at a time.

Lindi Mathebula | Public Health | Best Researcher Award

Lindi Mathebula | Public Health | Best Researcher Award

Ms Lindi Mathebula, South African Medical Research Council (SAMRC), South Africa

Ms. Lindi Mathebula is a committed public health scientist and epidemiologist with a strong academic and professional record in vaccine research and disease surveillance in Africa. Currently pursuing a PhD in Public Health at Stellenbosch University, her doctoral research explores vaccine acceptance, hesitancy, and refusal in South Africa. With extensive experience at institutions such as the South African Medical Research Council (Cochrane SA) and the Western Cape Department of Health, Ms. Mathebula has led and contributed to impactful research on tuberculosis, COVID-19, cholera, and clinical trial transparency. Her work is widely published in peer-reviewed journals and presented at global conferences. Known for her leadership in project management and systematic reviews, she also provides expert training and policy guidance to healthcare professionals. Ms. Mathebula’s scholarly commitment, practical contributions, and policy-relevant insights make her an outstanding candidate for the Best Researcher Award.

Publication Profile

Scopus

Education

Ms. Lindi Mathebula’s academic journey reflects her deep commitment to health research and epidemiology. She is currently pursuing her PhD in Public Health at Stellenbosch University, with her research focused on childhood vaccination acceptance in Cape Town. She previously completed a Master’s in Clinical Epidemiology at Stellenbosch University in 2019, where she conducted a cross-national analysis of tuberculosis treatment trials in BRICS countries. Her foundational academic qualifications include a BTech in Pharmaceutical Science from Tshwane University of Technology (2014), an Honours degree in Physiology (2012), and a BSc in Molecular and Life Sciences (2011), both from the University of Limpopo. Her multidisciplinary education has uniquely positioned her to bridge pharmaceutical sciences, clinical research, and public health. Ms. Mathebula’s academic background supports her diverse contributions to evidence-based healthcare, vaccine policy research, and health system strengthening across the African continent.

Experience

Ms. Mathebula brings over a decade of impactful experience in public health research, surveillance, and clinical trials. Since 2021, she has served as Project Manager at the South African Medical Research Council’s Cochrane SA, leading clinical trial evaluations and knowledge dissemination initiatives. Prior to this, she worked as Assistant Director of the Extended Programme on Immunisation (EPI) for the Western Cape Department of Health, focusing on disease surveillance and vaccine policy implementation. From 2016 to 2019, she served as a Scientist at Cochrane SA, contributing to systematic reviews and research capacity-building. Across these roles, she has played a pivotal role in improving data transparency, training health professionals, and managing collaborative projects in vaccine development and public health emergencies. Her ability to integrate research with policy and practice makes her an influential figure in advancing Africa’s clinical research and vaccination programs.

Awards and Honors

While Ms. Lindi Mathebula’s profile does not list specific awards, her selection as a speaker and contributor to high-level policy discussions and international vaccine congresses reflects her standing in the public health research community. She has been invited to present her research at the 16th and 17th Vaccine Congress, the AVAEREF Advisory Committee, and SAHPRA stakeholder engagements, which underscores the impact and relevance of her work. She is also a recognized trainer in evidence-based healthcare, routinely leading workshops for healthcare professionals and students. Her research has appeared in top-tier journals such as BMJ Open, Human Vaccines & Immunotherapeutics, and Trials, and her work has contributed to improving vaccine uptake and clinical trial transparency across Africa. Ms. Mathebula’s academic and practical contributions position her as a rising leader in global public health and a worthy candidate for future awards and recognition.

Research Focus

Ms. Lindi Mathebula’s research is centered on vaccine policy, public health surveillance, and clinical trial transparency—critical areas in global health. Her PhD research delves into the social dynamics of childhood vaccine acceptance and hesitancy in Cape Town, while her prior work has examined tuberculosis and COVID-19 trials across Africa and BRICS nations. She also studies the effectiveness of clinical trial registration in promoting ethical, transparent, and efficient research, particularly in underrepresented African settings. Her interest extends to health system strengthening, evidence synthesis, and capacity-building in public health. By investigating systemic barriers to vaccine uptake and improving trial registry practices, she contributes to enhancing both access to and trust in vaccines. Her work informs national and regional health strategies, and her leadership in workshops and stakeholder engagement further amplifies her research’s impact on policy and practice.

Publication Top Notes

  1. Mathebula et al., 2023Cholera vaccine clinical trials: A cross-sectional analysis. Hum Vaccin Immunother. [Cited by: TBD] 🔗

  2. Wiysonge, Ndwandwe & Mathebula, 2023Measles and whooping cough outbreaks: A warning sign. The Conversation. 🔗

  3. Mathebula et al., 2022TB trials in BRICS countries. BMJ Open. [Cited by: TBD] 🔗

  4. Mathebula et al., 2022Clinical trial registration in Africa during COVID-19. Trials. [Cited by: TBD] 🔗

  5. Wiysonge et al., 2022COVID-19 vaccine trials in Africa. SAJS. 🔗

  6. Ndwandwe et al., 2022Trends in Pan African Clinical Trials Registry. BMJ Open. 🔗

  7. Hohlfeld et al., 2021TB intervention trials in Africa. PLoS ONE. 🔗

  8. Ndwandwe et al., 2020COVID-19 diagnostics review. PAMJ. 🔗

  9. Iwu et al., 2020Vaccine stock-level mobile reporting. Hum Vaccin Immunother. 🔗

  10. Mathebula et al., 2019Vaccines against Ebola: Systematic review protocol. BMJ Open. 🔗

  11. Ndwandwe et al., 2020Vaccine trials in Africa: A review. Hum Vaccin Immunother. 🔗

  12. Jaca et al., 2018Reducing missed opportunities for vaccination. Vaccine. 🔗