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Manuel de la Mata

Biol. Col : 19989-M

Manuel de la Mata. Precision, Preventive and Personalized Medicine. Geneticist | Product Manager and genetic consultant at 24Genetics.

Manuel de la Mata, MsC. He is a young geneticist and genetic counselor, a biologist specialized in clinical genetics and fertility. Currently, he continues his active training, both self-taught and through institutions, symposia and international congresses.

He began his professional career rotating at the Ramón y Cajal Hospital, one of the pioneering hospitals in Spain in the area of clinical genetics. It was through this experience, when he learned and realized about the potential and passion that genetics held.

Subsequently, he made the leap to 24Genetics, in the early days of the company. His role has been focused on the product development and genetic counseling department for the last two years.

Manuel has been a member of several societies such as: The European Society of Human Genetics, the Spanish Society of Human Genetics and of the Spanish Society of Genetic Counseling.

 

FOCUS AREAS

  • Design, production and update of new genetic reports.
  • Development of algorithms
  • Genetic counseling (rare, complex and monogenic diseases, cancer, pharmacogenetics, nutrigenetics)
  • GWAS analysis

 

EDUCATION

MÁSTER

Clinical Genetics and Assisted Reproduction

DEGREE

Degree in Biology

 

RESEARCH

Mapping the human genetic architecture of COVID-19

An individual's genetic makeup contributes to susceptibility and response to viral infection. Although environmental, clinical, and social factors play a role in SARS-CoV-2 exposure and severity of COVID-191,2 disease, host genetics may also be important. Identification of host-specific genetic factors may reveal therapeutically important biological mechanisms and elucidate causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of investigators to investigate the role of human genetics in SARS-CoV-2 infection and the severity of COVID-19. We describe the results of three genome-wide association meta-analyses covering up to 49,562 patients with COVID-19 from 46 studies in 19 countries. We report 13 significant genome-wide loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations with pulmonary or autoimmune and inflammatory diseases3-7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body mass index for severe COVID-19, although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19, with unprecedented speed, was made possible by the human genetics research community coming together to prioritize the sharing of data, results, resources, and analytical frameworks. This model of international collaboration highlights the potential for future genetic discoveries in emerging pandemics or, indeed, any complex human disease.

 

COURSES

  • 5th Conference on Genetic Counselling: Hospital Dexeus, Spain, 2019
  • Assisted Reproduction and Fertility Symposium - GINEFIV, Spain, 2018
  • CEGEN - Partnership studies: data design and analysis, Spain, 2018

 

ADDITIONAL CONTENTS:

http://revbigo.webs.uvigo.es/images/revbigo/2016/Revbigo_2016_07.pdf

 
 
 
 
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