Publication overview

Research center

The Human Genome and Stem Cell Research Center

São Paulo, Brazil

The Human Genome and Stem Cell Research Center

About the center

There are at least 10.000 ALS patients in Brazil and this population is of great value to this project due to its genetic background variability, since we have mixtures of Caucasians, Africans, Asians and Native Americans.

The Human Genome and Stem Cell Research Center (HUG-CELL) is the largest center of research and diagnosis of genetic disorders In Latin America. Among different disorders we are investigating, ALS play an important role. Our group has identified one of the inherited ALS form (ALS8-VAP-B gene) and since then we have been involved in ALS research.We are investigating new therapeutic approaches focusing stem cell therapy in preclinical studies and also generating IPS cells from ALS patients with different mutations. That is why we are extremely interested in taking part of the international Project MinE. As main reference center for neuromuscular disorders in Brazil we has access to a great number of patients that would be enrolled in this project. Therefore, the centre will be responsible for collecting, processing the samples and analyzing the data.

Agnes Nishimura

SMD/Neuroscience

Surgery and Trauma QMUL, Blizard Institute

Agnes Nishimura

SMD/Neuroscience

Dr. Agnes Nishimura graduated in Biological Sciences from the University of Sao Paulo, Brazil. She completed her PhD in human genetics at the same institution under the supervision of Prof. Mayana Zatz. During her PhD, she discovered a mutation in the vesicle-associated membrane protein-associated protein B (VAPB) gene that causes an atypical form of amyotrophic lateral sclerosis (ALS) in the Brazilian population. This mutation is the most common form of familial ALS in Southeast Brazil.

After completing her PhD, she moved to London to continue her career in ALS research. She worked with Prof. Christopher Shaw at King’s College London, where she continued to focus on the genetics of ALS and contributed to identifying another gene associated with ALS, the fused-in sarcoma (FUS) gene. For the past few years, she has been working on creating a biobank of induced pluripotent stem cells (iPSCs) generated from ALS patients. Her lab at Queen Mary University of London (QMUL) is dedicated to studying ALS by using iPSCs to model the disease.