Flavio Faletra | Cardiovascular Genetics and Genomics | Best Researcher Award 

Dr. Flavio Faletra | Cardiovascular Genetics and Genomics | Best Researcher Award 

University Health Authority of Central Friuli | Italy

Author Profile

Scopus
Orcid ID

Biography of Flavio Faletra: A Leader in Medical Genetics 🧬

EARLY ACADEMIC PURSUITS 🎓

Flavio Faletra began his distinguished academic journey at the University of Trieste, where he earned a Degree in Medicine and Surgery in 2005. He further specialized in Medical Genetics at the same institution, completing his specialization in 2009. Demonstrating a strong commitment to his field, Faletra pursued advanced education with a Second-level Master’s degree in Clinical Genetics from the University of Siena in 2011. His foundational academic achievements laid the groundwork for a career focused on the intersection of genetics and clinical medicine.

PROFESSIONAL ENDEAVORS 🏥

Flavio Faletra has held multiple pivotal roles in medical genetics. Since August 2023, he has been an Expert in Genetics at the Regional Health Coordination Agency (ARCS) in Friuli Venezia Giulia, Italy. Alongside his expert role, he has been a University Lecturer on contract at the University of Trieste from 2018 to 2023, contributing to the academic growth of students in the field of genetics. His professional journey includes numerous positions as a Medical Director I Level in Medical Genetics, starting with the IRCCS Burlo Garofolo (2013–2017) and progressing through roles in University Health Authority Friuli Centrale and IRCCS Burlo Garofolo until his current position, reflecting his leadership in the medical genetics field.

CONTRIBUTIONS AND RESEARCH FOCUS ON CARDIOVASCULAR GENETICS AND GENOMICS  🔬

Faletra’s research focus spans various critical areas of medical genetics, from pediatric endocrinology to rare genetic diseases. He has contributed extensively to genetic counseling and clinical genetics, with a strong emphasis on pediatric genetic disorders. His work as a Thesis Co-Surveyor and PhD Supervisor at the University of Trieste demonstrates his dedication to nurturing the next generation of geneticists. Through courses such as the Genetic Consulting in Medical Genetics Specialization School, he has shaped the landscape of medical genetics education. His involvement in pediatric endocrinology through ADE courses has brought syndromic genetic disorders to the forefront, significantly impacting the medical community’s approach to these conditions.

IMPACT AND INFLUENCE 🌍

Faletra’s influence extends beyond academia into clinical practice, where his expertise has helped shape genetic diagnostic strategies across Italy. His participation in national conferences, such as the National Congress of Human Genetics and seminars on genetic syndromes and diagnostics, marks him as a key figure in Italian medical genetics. Faletra's teaching and research efforts have particularly impacted the areas of growth retardation, fetal malformations, and syndromic genetic disorders, positioning him as a central figure in advancing genetic medicine in pediatrics.

ACADEMIC CITES 📚

Flavio Faletra's work has been cited in numerous academic publications, with topics ranging from genetic diagnostic methods to therapeutic approaches for rare genetic disorders. His research in exome sequencing and next-generation sequencing techniques has had a broad impact, being referenced widely in the fields of human genetics and pediatric medicine.

LEGACY AND FUTURE CONTRIBUTIONS 🏅

Faletra’s legacy lies in his dedication to medical genetics, particularly in the areas of pediatric syndromic diseases and clinical genetics. His contribution to education, research, and clinical practice has left an indelible mark on the field. Looking ahead, his ongoing role as an expert and lecturer promises continued contributions to genomic medicine and the advancement of personalized treatment for genetic disorders. Through his continuous involvement in research, teaching, and clinical practice, Faletra remains at the forefront of innovation in medical genetics, with the potential to further revolutionize the diagnosis and treatment of complex genetic diseases.

NOTABLE PUBLICATIONS 📑

"SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability" 

  • Authors: Bogaert, E., Garde, A., Gautier, T., Dermaut, B., Vitobello, A.
  • Journal: American Journal of Human Genetics
  • Year: 2023

"Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders" 

  • Authors:Di Stazio, M., Zanus, C., Faletra, F., d’Adamo, A.P., Musante, L.
  • Journal: Genes
  • Year: 2023

"A new neurodevelopmental disorder linked to heterozygous variants in UNC79"

  • Authors: A., Liu, Z., Luo, S., Liao, W., & Ren, D.
  • Journal: Genetics in Medicine
  • Year: 2023

"The clinical impact of the first-trimester nuchal translucency between the 95th–99th percentiles"

  • Authors: Fantasia, I., Catagini, S., Zamagni, G., Feresin, A., & Stampalija, T.
  • Journal: Prenatal Diagnosis
  • Year: 2023

"A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases"

  • Authors: Zucco, J., Baldan, F., Allegri, L., Damante, G., Mio, C.
  • Journal: Journal of Human Genetics
  • Year: 2024

Erisa Mwaka | Genetics and Genomics | Best Researcher Award

Assoc Prof Dr. Erisa Mwaka | Genetics and Genomics | Best Researcher Award

Makerere University | Uganda

AUTHOR PROFILE

Orcid ID

EARLY ACADEMIC PURSUITS

Mwaka Erisa Sabakaki's academic journey began at Mwiri Primary School, where he earned his Primary Leaving Examination Certificate in 1986. He continued his education at Busoga College Mwiri, obtaining the Uganda Certificate of Education in 1990 and the Uganda Advanced Certificate of Education in 1992. He pursued a Bachelor of Medicine and Bachelor of Surgery at Makerere University, Kampala, from 1992 to 1997. Following this, he achieved a Master of Medicine in Orthopaedic Surgery from Makerere University between 2000 and 2003, where his thesis focused on the clinical and radiological presentation of osteonecrosis of the femoral head among sickle cell patients. He furthered his academic credentials with a Doctor of Philosophy in Medical Science from Fukui University School of Medicine in Japan, concentrating on histo-pathological and immuno-histological findings related to calcium pyrophosphate dihydrate crystal deposition in the ligamentum flavum of the cervical spine.

PROFESSIONAL ENDEAVORS

Mwaka's professional career is multifaceted, combining academic responsibilities, clinical practice, and extensive involvement in research ethics. Since December 2020, he has been an Associate Professor at Makerere University College of Health Sciences, School of Biomedical Sciences, Department of Anatomy. His clinical practice includes serving as an orthopaedic and spine surgeon at Mulago National Referral and Teaching Hospital. Additionally, he has held significant roles, such as the Chair of the Makerere University School of Biomedical Sciences Higher Degrees Research Ethics Committee (SBSHREC), where he oversees the regulation of research involving human participants and study animals.

CONTRIBUTIONS AND RESEARCH FOCUS ON GENETICS AND GENOMICS 

Mwaka's contributions to the medical field are substantial, particularly in the areas of anatomy, orthopaedics, bioethics, and health research ethics. He has a notable interest in spine conditions, occupational health, bone health in HIV, and the ethics of medical care, biobanking, and genomics. His research includes supervising graduate studies and conducting his own investigations, with a significant focus on ethical standards and the responsible conduct of research. He is a key member and co-investigator in various training programs, including the Fogarty-funded International Health Ethics Training (IHRET) master's program.

IMPACT AND INFLUENCE

Mwaka has been recognized for his significant contributions to medical education, clinical care, and research. He is a member of multiple professional organizations, including the Uganda Medical Association, Association of Surgeons of Uganda, Uganda Orthopaedic Association, and International Society of Orthopaedic Surgery and Traumatology (SICOT). His involvement in these organizations has enhanced his professional skills and fostered teamwork and communication within the medical community.

AWARDS AND HONORS

Mwaka's excellence in his field has been acknowledged through numerous awards and honors. Notably, he received the Prof. Medi Kawuma Excellence in Medical Ethics Award in 2023 from the Uganda Medical Association, recognizing his outstanding contributions to research, clinical care, and medical education. He has also been honored by the Uganda Orthopaedic Association and the South African Research Ethics Training Initiative (SARETI) for his academic and professional achievements.

ACADEMIC SITES

Mwaka has actively contributed to multiple technical advisory committees and data and safety management boards. His roles include overseeing studies on severe acute malnutrition, HIV outcomes improvement using mobile phone-based support, growth and development in stunted children, clinical trials on natural therapeutics, and respiratory interventions. His work in these areas underscores his dedication to improving health outcomes through research and ethical oversight.

LEGACY AND FUTURE CONTRIBUTIONS

Mwaka's legacy is marked by his dedication to education, clinical excellence, and ethical research practices. His contributions have significantly advanced the fields of orthopaedics, bioethics, and health research ethics. Moving forward, his continued involvement in mentoring and training future medical professionals and researchers will further solidify his impact on the medical community. His role in developing and implementing ethical guidelines for clinical research will ensure the responsible conduct of research and the protection of participants' rights and welfare.

NOTBLE PUBLICATIONS

Informed consent in cancer clinical care: Perspectives of healthcare professionals on information disclosure at a tertiary institution in Uganda 2024(1)

Evaluation of the current status of prosthetic rehabilitation services for major limb loss: a descriptive study in Ugandan Referral hospitals 2024(2)

Research Participants’ Preferences for Individual Results of Pharmacogenomics Research: A Case of a Ugandan HIV Research Institute 2023(2)

A case for routine microbial diagnostics: Results from antimicrobial susceptibility testing in post-traumatic wound infections at a Ugandan tertiary care hospital 2023(2)

Remote consent approaches for mobile phone surveys of non-communicable disease risk factors in Colombia and Uganda: A randomized study2023(1)