Dr. Hector Rodrigo Mendez is a Medical Geneticist from Argentina. Rodrigo completed a residency program in Medical Genetics at Centro Nacional de Genetica Medica – ANLIS (Buenos Aires, Argentina) and a Master’s program in Medical Molecular Biology at Buenos Aires University.
Rodrigo continued his scientific career at a German Genomic Start-up, working as a human geneticist and providing his experience in rare disorders, genomic data (WGS/WES/gene panels) analysis, variant interpretation, and its integration with a deep focus on genotype-phenotype correlation.
Rodrigo’s areas of expertise are rare disorders, NGS technology, Whole Genome Sequencing analysis, and ACMG interpretation guidelines, and his research aims are:
- Collection and analysis of clinical data through deep-learning phenotyping approaches.
- Multi-omic data integration to elucidate complex and rare genetic disorders.
- International collaborations to break down barriers to research participation amongst those who have been under-represented.
At Stanford University, under the supervision of Dr. Matthew Wheeler, he is conducting his postdoctoral research studies to achieve his scientific goals.
Honors & Awards
The Milagros para Niños Observership Scholarship Award in Genetics, Boston Children´s Hospital – Harvard Medical School (2019)
The International School on Inherited Ataxias: from genetics to clinics Scholarship Award, IBRO (International Brain Research Organization) (2019)
The 13th International Congress of Inborn Errors of Metabolism Young Delegate Scholarship Award 2017, Latin American Society of Inborn Errors of Metabolism and Neonatal Screening. (2017)
Matthew Wheeler, Postdoctoral Faculty Sponsor
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
2022; 13 (7)
Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.06/1000 births. The aim of this study was to identify the genetic causes in Argentinian patients with MCA and isolated CHD. We recruited 366 patients (172 with MCA and 194 with isolated CHD) born between June 2015 and August 2019 at public hospitals. DNA from peripheral blood was obtained from all patients, while karyotyping was performed in patients with MCA. Samples from patients presenting conotruncal CHD or DiGeorge phenotype (n = 137) were studied using MLPA. Ninety-three samples were studied by array-CGH and 18 by targeted or exome next-generation sequencing (NGS). A total of 240 patients were successfully studied using at least one technique. Cytogenetic abnormalities were observed in 13 patients, while 18 had clinically relevant imbalances detected by array-CGH. After MLPA, 26 patients presented 22q11 deletions or duplications and one presented a TBX1 gene deletion. Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel. Using an algorithm that combines molecular techniques with clinical and genetic assessment, we determined the genetic contribution in 27.5% of the analyzed patients.
View details for DOI 10.3390/genes13071172
View details for PubMedID 35885957
View details for PubMedCentralID PMC9317700
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
2021; 42 (3): 291-295
Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR variants, some reduce but do not completely eliminate tyrosinase activity, allowing residual production of melanin and resulting in a contradictory assignment as either pathogenic or benign, preventing a precise clinical diagnostic.Materials and Methods: In the present work, we performed Whole Exome Sequencing and subsequent Sanger sequencing in a young male clinically diagnosed with OCA.Results: Whole-exome sequencing analysis revealed the identification of two variants in trans in TYR. The first, corresponds to a known pathogenic variant G47D, while the second S192Y, was considered a polymorphism due to its relatively high frequency in the European population.Conclusion: The lack of other pathogenic variants in TYR, the reported reduced enzymatic activity (ca. 40% respect to wt) for S192Y, together with the structural in-silico analysis strongly suggest that both reported variants are jointly disease-causing and that S192Y should be considered as likely pathogenic, especially when it is found in trans with a null variant.
View details for DOI 10.1080/13816810.2021.1888129
View details for PubMedID 33599182
- A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. Clinical dysmorphology 2020; 29 (1): 42-45