PeerJ Award Winners at HGM 2024

by | Jun 3, 2024 | Award Winner Interviews, Contributors

Human Genome Meeting (HGM) is a series of annual conferences organized by the Human Genome Organisation (HUGO). It started as a meeting dedicated for Human Genome Mapping. Over the years, with the completion of the Human Genome Project, HGM has evolved from a small targeted meeting into a scientific conference for all genetic and genomic researchers; an excellent platform for industry partners and bio-technology companies as well as pharmaceutical giants; and a fantastic reunion for fellow scientists and networking opportunity for established and young investigators.

Claire Lee, HGM 2024 Organizing Commitee


Paula Buonfiglio Institute for Genetic Engineering and Molecular Biology (INGEBI), CONICET, Argentina.

Can you tell us a bit about yourself and your research interests?

I am Bachelor in Sciences, graduated from the University of Buenos Aires, Argentina in 2016. I began working at the Laboratory of Physiology and Genetics of Hearing when I was an undergraduate student and got my Ph.D. in 2022. Currently, I am completing my postdoctoral research. I specialize in the genetic diagnosis of hearing loss. My research primarily focuses on identifying and analyzing novel genetic variants related to hereditary hearing loss. I employ techniques such as whole exome sequencing to analyze all the genes at once to understand the genetic basis of auditory impairments. Besides, by variant curation I accurately interpret variants to provide precise genetic counseling to patients following the current ACMG and Hearing Loss Variant Curation Expert Panel guidelines.

My work involves studying the impact of novel variants through both in silico and in vivo analyses involving mice and zebrafish models. This research has significantly contributed to the field of human genetics, providing insights into the genetic mechanisms underlying hearing loss.

What first interested you in this field of research?

My initial interest lied in attaining genetic diagnoses for patients with hearing loss through our sequential diagnosis algorithm. I begin by excluding frequent variants and then proceed to whole exome sequencing, delving into the analysis of over 100 genes associated with hearing impairment. I found variant prioritization and segregation analysis particularly enjoyable, alongside the fulfillment of aiding individuals in receiving accurate diagnoses.

Can you briefly explain the research you presented at HGM 2024?

Our study investigated the genetic etiology of hearing loss in a cohort of 1000 patients from Argentina, employing a wide range of techniques including Sanger Sequencing, GAP-PCR, MLPA, and whole-exome sequencing. Additionally, novel variants were scrutinized through in silico and in vivo analysis using zebrafish models. The findings underscored the significant contribution of genetic variants to hearing impairment, with a diagnostic yield of 44% among the studied families, including the identification of novel variants. Notably, the study highlighted the value of the zebrafish model in precision medicine, facilitating a deeper understanding of the functional consequences of identified genetic variants. The integration of zebrafish analyses into diagnostic frameworks enhances the accuracy and clinical relevance of genetic discoveries, offering promising avenues for more targeted therapeutic interventions in the realm of hearing loss.

How will you continue to build on this research?

My upcoming endeavors entail a deeper immersion into the field of genetic diagnosis for hearing loss, where I aim to conduct trio analysis studies to unravel the complexities behind cases that have eluded diagnosis thus far. Furthermore, I eagerly anticipate collaborating with esteemed colleagues from abroad, pooling our expertise to achieve breakthrough diagnoses and embark on transformative functional assays. These collaborative efforts will encompass the exploration of whole genome sequencing, the pursuit of novel genes associated with hearing impairment, and the validation of variants through captivating in vivo analyses, which notably involve the use of knock-in mice

Get PeerJ Article Alerts