Mariarosaria Negri | Medicine and Health Sciences | Best Researcher Award

Assist. Prof. Dr. Mariarosaria Negri | Medicine and Health Sciences | Best Researcher Award

RTT BIOS-06/A at Pegaso University, Italy

Dr. Mariarosaria Negri is a tenured researcher in Physiology at Pegaso University, Italy, with a robust background in endocrinology, andrology, and metabolic research. Born in 1987, she has cultivated over a decade of experience in basic and translational science, particularly focused on the interplay between hormonal regulation, reproductive health, and metabolic function. Her academic journey includes significant contributions at the Federico II University of Naples, where she collaborated with esteemed scholars on cutting-edge projects related to pituitary tumors, circadian rhythm, vitamin D metabolism, and endocrine disruptors. Dr. Negri has also participated in European Union-funded initiatives exploring big data in sexual medicine, showcasing her ability to bridge physiology with modern digital health trends. Her scholarly work is complemented by teaching responsibilities in statistics and human physiology, underlining her commitment to academic excellence and knowledge dissemination.

Professional Profile 

🎓 Education of Dr. Mariarosaria Negri

Dr. Mariarosaria Negri holds a distinguished academic background in biomedical sciences and biotechnology. She earned her Bachelor’s degree in Medical, Pharmaceutical and Veterinary Biotechnology from the University of Naples “Federico II” in 2011, graduating cum laude, where she gained foundational knowledge in molecular biology and physiology 🧬. Driven by a passion for scientific inquiry, she pursued her Ph.D. in Biomedical Sciences at the University of Florence, completing it in 2015. Her doctoral research focused on the physiological and molecular mechanisms involved in endocrinology and metabolism, laying the groundwork for her current expertise in translational and reproductive physiology 🧠🔬. This strong academic formation has been instrumental in shaping her career as a dedicated researcher and educator in human physiology.

💼 Professional Experience of Dr. Mariarosaria Negri

Dr. Mariarosaria Negri has amassed over a decade of rich professional experience in the fields of physiology, endocrinology, and andrology. She currently serves as a Tenured Researcher in Physiology at Pegaso University, Italy, where she also contributes to academic teaching in motor sciences, healthcare statistics, and digital health 🧑‍🏫📊. Her career began with collaborative research and post-doctoral roles at the University of Naples “Federico II”, working under renowned endocrinologists such as Prof. Annamaria Colao and Prof. Rosario Pivonello. Her work has focused on critical topics including pituitary adenomas, GH/IGF-1 axis, sexual dysfunction, metabolic disorders, and vitamin D interactions 🧠🩺. She has also participated in EU-funded projects exploring smart data applications in reproductive medicine, demonstrating her ability to integrate classical research with modern digital tools. Her professional journey reflects a strong blend of research innovation, academic service, and interdisciplinary collaboration, making her a valuable contributor to biomedical science.

🔬 Research Interests of Dr. Mariarosaria Negri

Dr. Mariarosaria Negri’s research interests lie at the intersection of endocrinology, metabolism, reproductive physiology, and digital health. She is particularly focused on understanding the molecular and physiological mechanisms underlying hormonal imbalances, with special attention to the GH/IGF-1 axis, gonadal function, and sexual dysfunction 🧬💊. Her studies explore the pathophysiology of conditions such as acromegaly, pituitary adenomas, and metabolic syndrome, aiming to identify novel biomarkers and therapeutic targets. Additionally, Dr. Negri is involved in cutting-edge research that utilizes big data and smart data technologies to analyze real-world clinical outcomes in reproductive and sexual health 🧠📈. Her commitment to both basic and translational research ensures that her work contributes meaningfully to clinical practices, particularly in the evolving fields of andrology, endocrinology, and digital transformation in medicine.

🏅 Awards and Honors of Dr. Mariarosaria Negri

Throughout her academic and research career, Dr. Mariarosaria Negri has earned recognition for her dedication to scientific excellence and innovation in physiology and endocrinology. She graduated cum laude from the University of Naples “Federico II,” reflecting her strong academic performance early in her career 🎓✨. While formal named awards are not extensively listed, her continuous selection for competitive post-doctoral research grants, including prestigious roles in EU-funded projects such as PRIN 2022 PNRR, highlights her scientific merit and trust within the research community 🌍🔬. Her appointment as a Tenured Researcher in Physiology at Pegaso University further attests to the recognition of her expertise and contributions to the biomedical field. These honors reflect both the quality and impact of her research across academic, clinical, and digital health domains.

📄 Publication Top Noted

  1. Title: Cabergoline counteracts adipose and skeletal muscle lipid accumulation: A novel therapeutic approach to obesity?
    Authors: Mariarosaria Negri, [co-authors not listed], …
    Journal: Biomedicine and Pharmacotherapy
    Year: 2025
    Citations: 0

       2. Title: 1,25‑Dihydroxyvitamin D3 mitigates the adipogenesis induced by bisphenol A in 3T3-L1 and hAMSC through miR-27-3p regulation
           Authors: Mariarosaria Negri, [co-authors not listed], …
           Journal: International Journal of Obesity
          Year: 2024
          Citations: 2

 

 

 

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.