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
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Inborn errors of metabolism and rare genetic diseases
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Lysosomal storage disorders (including LAL-D, Gaucher disease, and alpha-mannosidosis)
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Phenylketonuria (PKU) and organic acidurias
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Neonatal screening programs
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Epidemiology and real-world evidence in pediatric metabolic disorders
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Nutritional and enzyme replacement therapies in pediatric populations
Author Metrics & Scientific Contributions
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Principal Investigator in multiple national and international clinical trials
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Scientific Member of the Telethon Undiagnosed Diseases Program (TUDP) and E-HOD
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Coordinator/Advisor for over 30 expert boards and working groups, including SIMMESN
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Co-author of educational and clinical monographs, including:
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“Inherited Metabolic Disorders Neonatal Screening” (2014)
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Educational booklets on MSUD, TYR, HCU, MMA/PA, GA, IVA, and PKU (2020–2022)
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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.