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Instituto Paulo Gontijo will be the sole Brazilian representative of the Mine Project

Published: 04/30/2015

As member of the international alliance (ALS / MND Alliance), the Paulo Gontijo Institute has just become official participant of the Mine Project, which consists of an international consortium with the aim of verifying the entire genome of at least 15 000 patients with Lateral Sclerosis Amyotrophic (ELA) around the world. Countries like the United States, the Netherlands, Sweden, Australia, Israel, Portugal, Ireland, and Brazil, among others, have come together to try to detect what are the regions of the genome shared by ALS patients. "With that we will be able to  identify regions that could predispose to the development of the disease, as well as meet new genes that can cause the  disease. From this point, it will be possible to to study potential therapies for ALS, "says Dr. Miguel Mitne, research coordinator of the IPG.

The kick off of the project was given in June 2013, when the ALS Centre of the Netherlands began a landmark study for the genetic cause of ALS. From this point  the researchers, coordinated by the University Medical Centre (UMC) in Ultrech, began to collect the DNA samples to build a database with the profiles identified. If it is possible to  find regions that are shared by many patients, it will be the sign of a first biomarker for ALS. "Knowing that the diagnosis of ALS is purely clinical, it would facilitate the diagnosis of the patient. This impacts on the time to start treatment. This is a disease with a  progression of  approximately  three to five years. Usually, here in Brazil, a patient takes about 10-12 months to be diagnosed correctly. We are talking about the loss of a year without having a direction, a closed diagnosis. This guidance is necessary because the treatment of ALS today is palliative and there is a big gain in quality of life for the patient when there is this guidance, "explains Dr. Mitne.

 The expectation is that this whole process lasts about three years. It is expected that during this  time it will be possible to sequence all patients. While this is done, various analyzes will be produced in parallel. However, the most robust findings should appear when it is completed, to obtain the "genetic profile" of ALS patients worldwide. In Brazil, the IPG is committed to reap 100 DNA samples and send them to the central laboratory of the project so that  it can be analyzed. "At first this is our goal. The entire project selection criterion is made by the international partners. We will  look at these issues with the national scientific community and decide which factors will be used to call these patients, "said Silvia Tortorella, executive director of the IPG.

 To finance such participation,  an approximate value of $ 550,000 will be needed. Each full DNA profile costs 2000 euros, so the campaign will be very intense. "We need a lot of support from the population and companies so that the cure of the ALS cano ne day be a reality," says Silvia.

 The invitation for the Paulo Gontijo Institute to become the Brazilian arm of the Project  was made by the organizers. "After the delivery of the Paulo Gontijo Award last year in Brussels, we were invited to try this partnership with the Mine. After analysing, we decided that we would be able to give this start on behalf of Brazil, to have the Brazilians participating in this cause, "says Silvia.


An important part of this process was the association with the Human Genome Studies Center at the University of São Paulo (USP), which is already a genetic global benchmark. The work of the IPG as the Brazilian arm is to make the collection of values ​​for this sequencing. After assessing the ethics committees, the Genome USP staff will be able to  receive patients who will donate the material for analysis and make the initial treatment of these samples. Then the samples will be transported out of the country for sequencing sessions. "When we talk about Project Mine, we are talking about  a process that will identify three billion base pairs of each of these patients that are  participating of the study. It is a long and costly work. Outside the country we have some facilities, such as companies that specialize in sequencing genomes. So this type of service will be used to facilitate and make the  the process faster. If we had to make all the process in Brazil, or even in partnership with two or three institutions, the amount of  would surely be much longer, "says the research coordinator, Dr. Mitne.


The Center for Research on the Human Genome and Stem Cells, led by geneticist Dr. Mayana Zatz, has different studies on ALS and highlights its participation in the project. "We are developing a research of new therapeutic approaches focusing on stem cells and pre-clinical disorders, also generating IPS cells from ALS patients with different mutations. Because of this, we are very interested in participating  in these discoveries, "says the researcher. 

For the entrepreneur Carlos Eduardo Uchôa diagnosed with ALS since 2010, this Project brings  new hope for a cure. "It is very important to confirm through DNA the  information which gives a light to scientists that  fight for our cause. This is important for me and for all patients with this sclerosis. It is our duty to participate. Any chance of cure, any support we can give to any entity that can help, is essential. " 

According to Dr. Uchôa, the fact that Brazil  takes  part in a survey of this size brings more chances  to find a cure, which is what we all want. This is a really difficult disease for those who have  it"he says. He believes this campaign is simply humanitarian. "I think my message is for a humanitarian issue, so that we can all seek the cure of this disease, because it appears from day to night. So if we can have the knowledge of how it arises, how it works, we can have the hope to  prevent it. The collaboration of the IPG in partnership with citizens can help this process because it is a disease that everyone can have, "explains Dr. Uchoa

 People Interested in helping the project can make financial contributions to the IPG, through the site or through the international page of the Project Mine https : //


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