A first update on mapping the human genetic architecture of COVID-19

peer reviewe

Evaluación del impacto del Programa Acces –Componente 2– apoyo a programas doctorales, en sus tres líneas de acción: créditos condonables a estudiantes, apoyo a la adquisición de equipos robustos e infraestructura y apoyo al intercambio de científicos: informe final revisado

a formación de capital humano de alto nivel se sustenta principalmente sobre la capacidad de producción de conocimiento científico y tecnológico. De este modo, pensar en una evaluación de los programas de formación doctoral aislada de las comunidades científicas y académicas, es desconocer la esencia misma de dicha formación y el conjunto imprescindible de relaciones tácitas y explícitas que se establecen entre la producción de la ciencia, la tecnología, la innovación y la demanda y oferta de conocimiento por parte de la sociedad. Por tal razón, la metodología propuesta para este estudio conjuga el análisis de los factores que permiten evaluar la calidad de los programas con la medición del efecto de dichos factores sobre las carreras académicas de los docentes, los investigadores y los estudiantes, la eficiencia de los programas en términos de recursos, resultados y los aportes científicos, expresado a través de la producción y generación de nuevo conocimiento.Universidad del Rosario. Facultad de Economí

Aprender haciendo : experiencia en la formación de jóvenes investigadores en Colombia

Los esfuerzos de mejoramiento del nivel cognoscitivo de los\ud recursos humanos se han concentrado en Colombia, entre otros\ud objetivos, en desarrollar una infraestructura científica y de innovación\ud tecnológica conformada por profesionales con excelencia,\ud en cuanto a sus capacidades y potencialidades; organizaciones\ud eficientes y establecimiento de redes operativas de conocimiento.\ud Colciencias, desde hace un tiempo, ha venido trabajando en el proceso\ud de formación de recursos humanos de alto nivel, con el propósito de\ud fortalecer la capacidad científica y tecnológica de las instituciones\ud del país.\ud En este libro se realiza un estudio de caso sobre la formación de\ud recursos humanos para la investigación y el tránsito hacia comunidades\ud científicas, a través del Programa de Jóvenes Investigadores de\ud Colciencias.Instituto Colombiano para el Desarrollo de la Ciencia y la Tecnología Francisco José de Caldas. COLCIENCIA

Utilización del Curriculum Vitae para la modelación de carreras académicas y científicas

Este documento presenta una revisión de las principales aproximaciones teóricas sobre recursos humanos\ud en ciencia y tecnología y la modelación empírica de las carreras académicas y científi cas utilizando los\ud Curriculum Vitae (CV) como fuente de información principal. Adicionalmente, muestra los resultados de\ud varios estudios realizados en Colombia basados en la teoría del capital conocimiento. Estos estudios han\ud permitido establecer una línea de investigación sobre la evaluación del comportamiento de los recursos\ud humanos, el tránsito hacia comunidades científi cas y el estudio de las carreras académicas de los investigadores.\ud Adicionalmente, muestran que la información contenida en la Plataforma ScienTI (Grup-Lac\ud y Cv-Lac) permite establecer de manera concreta las capacidades científi cas y tecnológicas del país.\ud Palabras claves: Recursos humanos, carreras académicas y científi cas, regresión discreta y modelos de\ud elección cualitativa.\ud Clasifi cación JEL: C25, O15.is document is a review of major theoretical approaches on Human Resources in S&T and empirical\ud modeling career academic use Curriculum Vitae (CV) as the main source of information. Furthermore,\ud it shows the results of several studies in Colombia based on knowledge capital theory. Th ese studies have\ud established a framework about performance assessment of human resources, scientifi c communities, and academic careers of researchers. In addition, show that the information in the ScienTI database allow to\ud set scientifi c and technological capabilities of the country.\ud Keywords: Human Resources, Academics and Scientifi c Careers, Discrete Regression and Qualitative\ud Choice Models.\ud JEL Classifi cation: C25, O15

Clinical manifestations of intermediate allele carriers in Huntington disease

Objective: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. Methods: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. Results: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p 0.002). Conclusions: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. ClinicalTrials.gov identifier: NCT01590589

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis

Clinical and genetic characteristics of late-onset Huntington's disease

Background: The frequency of late-onset Huntington's disease (&gt;59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P &lt;.001). Overall motor and cognitive performance (P &lt;.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P &lt;.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P &lt;.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P &lt;.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients

COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19

The COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.</p