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HUMAN MOLECULAR GENETICS

Understanding the genetics of disease

The Human Genetics Research group at the University of Barcelona we are working to unravel the genetic causes of both rare and common disorders. We are trying to identify the genetic risk factors involved in various psychiatric disorders (such as ADHD, OCD or aggressiveness), as well as in bone-related phenotypes (such as high-bone mass, osteoporosis or atypical femoral fracture), and in ischemic stroke recovery. We are also studying in detail the mutations leading to several congenital disorders, particularly retinal diseases (CERKL) and neurodevelopmental disorders (such as MAGEL2, TRAF7 or 7q11.23 deletion and duplication syndromes), while still researching novel genes for these disorders through the application of exome and whole genome sequencing. Finally, we are also interested in improving diagnosis of immunodeficiencies by applying various bioinformatic approaches.

Our research involves a mixture of wet lab and bioinformatic approaches to molecular biology and genetics.

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Who We Are

We are a research team located at the Facultat de Biologia of Universitat de Barcelona

What we do

The Human Genetics research group participates in three main types of activities. Of course, we are an academic research lab, so one of our main goals is the shaping of a new generation of biologists, biotechnologists, biochemists, biomedics and geneticists. We are also devoted to advancing knowledge through our research in various human disorders and traits. Finally, we are involved with the families affected by these disorders, and with society in general, with whom we communicate through a variety of outreach activities. 

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Education

Training new scientists

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Research

Advancing disease knowledge

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Outreach

Making science available to all

Contact The Human Molecular Genetics research group

Facultat de Biologia, UB

kelly.rabionet ( at ) ub.edu

93 403 57 16

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