It is a very exciting time to be in the field of human genetics. Since the sequencing of the human genome in 2003, genetics have tremendously improved the understanding of many human diseases, as well as nominated new targets for future therapies.
Dr. Mata's primary research goals are directed toward understanding the genetic component of neurological disorders, in particular Parkinson’s disease (PD), Parkinson’s Disease Dementia (PDD) and Dementia with Lewy Bodies (DLB). Most neurological disorders are very complex, both clinically and genetically, thus proposing a very interesting challenge. In most cases they are the result of a complex interaction between one’s genetics and the environment. Dr. Mata's lab uses approaches like case-control and family studies to identify those genetic risk factors that modify risk or cause the disease.
A significant focus of Dr. Mata's research has also been performing genetic studies in non-European populations, especially those with a minority ethnic background such as Latinos. For this Dr. Mata created and coordinated the Latin American Research consortium on the Genetics of PD (LARGE-PD), a collaboration of more than 12 institutions in many countries in Latin America. The reason behind it is that there is a tremendous lack of diversity in genetic research, with most large-genetic studies including only people of European ancestry, despite the fact that most diseases affect people from all genetic backgrounds. This is increasing the already existing health disparities in these populations.
The goal is to be able to apply this knowledge for a more precise treatment of all patients with neurological disorders.
In other words ...
Every person inherits information (genes) from their parents that determines characteristics like height, eye and hair or skin tone. But these genes also carry information that can protect or increase our chances of developing certain diseases. Dr. Mata's lab is working toward identifying and understanding the genes that play a role in those diseases that affect the brain (neurological disorders). These include the very well-known Parkinson’s disease (PD), but also other, less common, disorders, such as a form of PD that presents with severe cognitive problems/dementia (PDD) and another type of dementia called Dementia with Lewy Bodies (DLB). Identifying these genes is very important as they represent candidates for novel therapies that can help treat these disorders.
Dr. Mata's lab tries to include patients from all ethnicities in its studies, and is privileged to coordinate the Latin American Research consortium on the Genetics of PD (LARGE-PD). This consortium is trying to understand if these genetic factors are the same between populations or specific to certain populations. This inclusion of patients from all genetic backgrounds will be a key factor in developing genetic-based, personalized treatments.
The identification of gene variants that cause or lead to Parkinson’s disease (PD) has revolutionized the medical research field by identifying novel targets for the development of precision treatments. However, the vast majority of these studies have been conducted in populations of European or Asian ancestry. No large-scale PD genetic studies have ever been conducted in Latino populations.