Genetics and genomic medicine in Argentina

Cotignola, Javier; Rozental, Sandra; Buzzalino, Noemí; Daín, Liliana

doi:10.1002/mgg3.571

Cited by 5 publications

(7 citation statements)

References 9 publications

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“…There are around 20 NGS devices in the country and sequencing is performed both locally and outsourced to other countries such as Brazil and Spain(Vishnopolska, 2018). Array-CGH was introduced by CENAGEM in 2014 and is currently being incorporated by other institutions as well(Cotignola, 2019). The National Administration of Health Laboratories and Institutions (ANLIS) states that 76 genetic disorders can be diagnosed through the public health system of our country (Centro Nacional de Genética Médica, 2017c).Of these, only one is purely eye related: retinoblastoma, and a few have ophthalmic manifestations as part of a systemic condition(i.e., X-linked adrenoleukodystrophy, congenital disorders of glycosylation, and lysosomal storage disorders).…”

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confidence: 99%

Ophthalmic genetics in South America

Varela

Moya

Schlottmann³

et al. 2020

American J of Med Genetics Pt C

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South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next-generation diagnostics and ultimately improve patient care.

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confidence: 99%

Ophthalmic genetics in South America

Varela

Moya

Schlottmann³

et al. 2020

American J of Med Genetics Pt C

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“…A more realistic overview can be obtained by reviewing databases in the case of Argentina, with 25,064 variants deposited at LOVD, by 17 laboratories from five cities in the country. A brief description of genetic testing in Argentina was recently summarized (Cotignola et al, 2019).…”

Section: S E Q U E N C I N G T E C H N O L O G I E S I N L a T I N A mentioning

confidence: 99%

Tp53 Pathogenic Variants Related to Cancer

Rosero

Mejia

Corredor

2019

BAG

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TP53 or P53 is a tumor suppressor gene known as the “genome guardian”, responsible for inducing cell response to DNA damage, by stopping the cell cycle in case of mutation, activating DNA repair enzymes, initiating senescence and activation of apoptosis. Mutations in the gene sequence can cause non-synonymous mutations or errors in the reading frame by insertion, deletion or displacement of nucleotides: e.g., c.358A>G mutation in exon 4 and variants located in exons 9 and 10 of the TD domain. Therefore, in this review, we will see that changes in the reading frame, including the loss of one or two base pairs could prevent accurate transcription or changes in the structure and function of the protein, and could completely impair reparation function. These changes promote self-sufficiency in growth signaling, insensitivity to anti-growth signals, and evasion of apoptosis, resulting in limitless replication and induction of metastatic angiogenesis, generating as a consequence the proliferation of tumor, neoplastic, and lymphoid cells. Taking into account the importance of TP53 in the regulation of the cell cycle, the objective of this review is to update information related to the role of this gene in the development of cancer and the description of genetic variations. Key words: Neoplasms, nuclear phosphoprotein p53, Tumor Suppressor, mutation, Clinvar, Uniprot

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“…Argentina-The progression of genetics and NBS in Argentina has recently been reviewed [1132][1133][1134] [1143,1145], HGB [1146][1147][1148], and CF [1149][1150][1151]. Outcome studies have targeted patients with CH [1152][1153][1154], PKU [1155], GAL [1156], MSUD [1157], and BIO [1158,1159].…”

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confidence: 99%

“…NBS for MSUD also is included in the provinces of Buenos Aires and Mendoza using a locally developed enzymatic analysis. NBS using MS/MS has been conducted for PKU, MSUD, and MCAD since 2014 in the Autonomous City of Buenos Aires[1134]. Looking to improve the NBS program for CF, researchers have compared the current IRT/Recent studies have reviewed the progress of screening for various conditions, patient outcomes, and related topics: cost effectiveness, screening equity, and program expansion.…”

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confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Genetics and genomic medicine in Argentina

Abstract: In this letter, we want to add information to the paper “Genetics and genomic medicine in Argentina” that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics.

Cited by 5 publications

References 9 publications

Ophthalmic genetics in South America

Ophthalmic genetics in South America

Tp53 Pathogenic Variants Related to Cancer

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

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