Flavio Faletra | Cardiovascular Genetics and Genomics | Best Researcher Award 

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

University Health Authority of Central Friuli | Italy

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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

Ying Yang | Neurodegenerative Disease | Best Researcher Award

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Assoc Prof Dr. Ying Yang | Neurodegenerative Disease | Best Researcher Award

Xi'an Children's Hospital | China 

AUTHOR PROFILE:

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EARLY ACADEMIC PURSUITS:

Ying Yang's academic journey began with a strong focus on science and medicine. Excelling in her studies from an early age, she displayed a keen interest in genetics and neurology. This passion led her to pursue a Bachelor's degree in Genetics, laying the foundation for her future research endeavors.

PROFESSIONAL ENDEAVORS:

After completing her undergraduate studies, Ying Yang embarked on a path towards advanced research and academic excellence. She pursued a Master's degree, delving deeper into the intricacies of genetic disorders affecting the nervous system in children. Her dedication and commitment to her field were evident as she published several papers during this period, showcasing her burgeoning expertise.

CONTRIBUTIONS AND RESEARCH FOCUS ON NEURODEGENERATIVE DISEASE:

Ying Yang's primary focus has always been on identifying pathogenic genes and elucidating the underlying mechanisms of hereditary diseases in pediatric neurology. Her research efforts have contributed significantly to the understanding of these complex disorders, providing crucial insights into their pathogenesis and potential therapeutic targets. Through her meticulous investigations, she has uncovered novel genetic mutations associated with various neurological conditions, advancing the field and paving the way for personalized medicine approaches.

IMPACT AND INFLUENCE:

Ying Yang's work has had a profound impact on both academia and clinical practice. Her findings have been widely cited and have informed clinical decision-making, ultimately improving patient care and outcomes. Furthermore, she has played an instrumental role in shaping the research landscape in her field, inspiring fellow scientists and students alike to explore the intersection of genetics and pediatric neurology.

ACADEMIC CITATIONS:

Ying Yang's contributions to the field have been recognized through numerous citations in peer-reviewed journals and academic publications. Her research papers have served as fundamental references for researchers and clinicians working in pediatric neurology and genetics, further cementing her reputation as a leading authority in her area of expertise.

LEGACY AND FUTURE CONTRIBUTIONS:

As Ying Yang continues to make strides in her research, her legacy as a pioneering scientist in pediatric neurology and genetics grows ever stronger. Her commitment to unraveling the mysteries of hereditary diseases in children serves as a beacon of inspiration for future generations of researchers. With her unwavering dedication and innovative approach, she is poised to make even greater contributions to the field, leaving an indelible mark on scientific knowledge and clinical practice for years to come.

NOTABLE PUBLICATIONS:

First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations 2022(3)

Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders 2022(7)

Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review 2024

A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients 2024

Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns 2024