Graciela Moya

Pontifical Catholic University of Argentina | UCA · Instituto de Bioética

The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) studies Latin American populations to benefit from the implementation of personalized medicine. Since 2006, it has studied ethnicity to apply pharmacogenetics knowledge in autochthonous populations of Latin America, considering ancestral medicine. The meeting 'Pharmacogenet...

Este estudio se propuso describir la calidad de vida de niños y adultos con discapacidad, así como la calidad de vida de su sistema familiar en una muestra de Latinoamérica. Se utilizaron los instrumentos WHOQOL-BREF y PedsQL 4.0. Los resultados mostraron una baja calidad de vida de todos los grupos estudiados, principalmente en la dimensión social...

Urge en la escena actual el imperioso deber de indicar el momento del inicio de la vida humana, porque permite establecer criterios y pautas bioéticas para definir los límites y alcances de la implementación de las técnicas de reproducción asistida (TRA). Principios como el respeto por la dignidad de la vida humana, la obligación de no dañar, el re...

En el marco del proyecto de investigación colaborativo «La información genética en salud: algunos aspectos éticos y jurídicos», se invitó a los investigadores a distintos países de Latinoamérica a que brindaran información acerca de la regulación sobre bancos de datos genéticos y realización deestudios genéticos en sus respectivos países.

Purpose The symposium Health and Medicines in Indigenous Populations of America was organized by the Council for International Organizations of Medical Sciences (CIOMS) Working Group on Clinical Research in Resource-Limited Settings (RLSs) and the Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF). It was aimed to share and eva...

La pandemia COVID-19 ha dejado al descubierto, en forma dramática, la falta de inversión y gestión en el sistema de salud y las debilidades estructurales del sistema de protección social. El análisis de los dilemas que surgen como secuencia de la toma de decisiones para lidiar contra los efectos de la pandemia puede dejar de lado la protección y pr...

We present the distribution of CYP2D6, CYP2C9 and CYP2C19 variants and predicted phenotypes in 33 native and admixed populations from Ibero‐America (n>6,000) in the context of genetic ancestry (n=3,387). Continental ancestries are the major determinants of frequencies of the increased‐activity allele CYP2C19*17 and CYP2C19 gUMs (negatively associat...

Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life. This study reports the ophthalmic, audiological and genetic features, in five CDPD...

Pharmacogenetic variation in Latin Americans is understudied, which sets a barrier for the goal of global precision medicine. The RIBEF-CEIBA Network Consortium was established to characterize interindividual and between population variations in CYP2D6, CYP2C9, and CYP2C19 drug metabolizing enzyme genotypes, which were subsequently utilized to cata...

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexit...

Congress of Pharmacogenetics and Personalized Medicine. Ethnicity, clinical implementation and regulatory environment (MESTIFAR 2016 Quito) Quito, Ecuador, 19–21 May 2016. The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) was created in 2006 with the main aim of promoting personalized medicine and collaborative pharmacogen...

The objective of this review study is to promote the dissemination of the legislation in force in Argentina for the protection of the rights of persons with conditions that might cause disability. Articles of bills and laws that protect the rights of these families are reviewed, so that health care providers assisting them have better access to the...

A twofold higher frequency of CYP2D6 ultrarapid metabolizers (estimated from genotype: gUMs) was reported among Ashkenazi Jews (AJ) living in New York (USA) than in other North American Caucasians, which might be important to guide the prescription for CYP2D6 substrates in AJ communities around the world. This study was aimed to determine whether t...

MESTIFAR 2014 28–30 November 2014, Panama City, Panama The CEIBA consortium was created within the Ibero-American network of Pharmacogenetics (RIBEF) to study population pharmacogenetics. The current status of these initiatives and results of the MESTIFAR project were analyzed in Panama, 28–30 November 2014. The MESTIFAR project focused on studying...

Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have been reported as rare events, and the first demonstration of a CYP3A4 protein lacking functional activity is caused by CYP3A4*20 allele. Here we characterized the world distribution and origin of CYP3A4*20 mutation. CYP3A4*20 was determined in more than 4...

The subsidiary principle, broadly defined in political and social philosophy, refers not only to the relations between communities, but also to relations of the individual with any type of social community. The subsidiary principle promotes the dignity of persons as social and individual beings by participating and it recognizes as primary the well...

Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive deafness, and is transmitted as an autosomal recessive trait. CDPD and autosomal recessive, non-syndromic congenital hereditary endothelial corneal dystrophy (CHED2) both map at overlapping loci at...

Discuss the capability for and limitations of prenatal detection of L1 cell adhesion molecule (L1CAM) mutations. Haplotype analysis by PCR and PAGE. Mutation detection by SSCP, followed by dideoxy sequencing. Confirmation of sequencing results with PCR and NcoI digestion. A 1-bp deletion was found in exon 2 of L1CAM in all affected males and obliga...

CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset....

Objective: Discuss the capability for and limitations of prenatal detection of L1 cell adhesion molecule (L1CAM) mutations. Methods: Haplotype analysis by PCR and PAGE. Mutation detection by SSCP, followed by dideoxy sequencing. Confirmation of sequencing results with PCR and NcoI digestion. Results: A 1-bp deletion was found in exon 2 of L1CAM in...

CADASIL disease diagnosed by molecular DNA test. CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tournier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 19...

CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tournier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset....

Chorionic villus sampling (CVS) and amniocentesis were performed on a pregnant woman during her 24th week of amenorrhoea following an ultrasound scan which showed a fetus with hydrocephaly, intrauterine growth retardation (IUGR), and a single umbilical artery. The direct karyotype from the cytotrophoblast was non-mosaic 47,XX,+16, while in amniotic...