Text by: Daniela Prandi 

Often associated with sophisticated exams and high-cost treatments, precision medicine is still seen as a reality restricted to highly specialized centers. A new international commission created by the scientific journal The Lancet, titled “The Lancet Commission on Precision Health”The group aims to change this perception. It brings together more than 20 experts from various countries, including Iscia Lopes-Cendes, a professor at the Faculty of Medical Sciences (FCM) at Unicamp and a researcher at the Brazilian Institute of Neuroscience and Neurotechnology (Cepid-Brainn), based at Unicamp.

Lopes-Cendes, a specialist in genomic medicine and technologies applied to neuroscience, is one of two representatives from Latin America in the group, which also includes psychiatrist Christian Kieling from the Federal University of Rio Grande do Sul (UFRGS). According to her, the commission’s objective is to formulate recommendations so that precision health strategies can be equitably incorporated into health systems worldwide.

In this process, he emphasizes, Brazil can play an important role. “I see Brazil as having a great responsibility to do the right thing, because we are a showcase for other countries in Latin America and for countries in the Global South.”

According to Lopes-Cendes, the country occupies a strategic position because it possesses characteristics that can transform it into a benchmark. “We can implement this equitably because, as long as it occurs within the Unified Health System (SUS), which has enormous reach, it will benefit all Brazilians.”

The researcher emphasizes that the combination of a universal public system, the increasing integration of health databases, and the accumulated experience in prevention policies puts Brazil in a privileged position to test models that can later be replicated in other regions of the world.

“Given Brazil’s characteristics—a country that produces a great deal of statistics and is currently transitioning to a higher level of development—there is significant international interest in what happens here. Brazilian case studies may be published within the commission. Our healthcare system is very organized in terms of record-keeping and data production, and this allows for the development of very interesting research,” she added.

The commission was created to address a growing challenge in healthcare systems. Although scientific advances have demonstrated that genetic, environmental, behavioral, and social factors influence the onset of diseases and the response to treatments, most medical care is still based on population averages and standardized protocols. The so-called precision health seeks precisely to incorporate this diversity. “We decided not to call the commission ‘precision medicine,’ but ‘precision health,’ because we can recommend actions related to lifestyle, behavior, and even public policies,” she explains.

Originally published at FCM Unicamp

The World Academy of Sciences for the Advancement of Science in Developing Countries (TWAS) elected Iscia Lopes Cendes, a faculty member of the Department of Medical Genetics and Genomic Medicine at the Faculty of Medical Sciences (FCM) of Unicamp and a researcher at CEPID BRAINN, as a member in 2024, in recognition of her distinguished contributions to science and to strengthening knowledge in the Global South. The diploma was presented during the 17th TWAS General Conference, held in Rio de Janeiro from 29 September to 2 October.

The conference is held biennially and, in this edition, was supported by the Brazilian Academy of Sciences (ABC), of which Iscia is also a member. Highlights of the event included discussions on strengthening scientific collaboration among countries of the Global South and the importance of investing in science as a foundation for sustainable development. Iscia took part in meetings with researchers from diverse regions, discussing topics related to health, innovation and scientific inclusion.

See also

Academia Mundial de Ciências elege Iscia Lopes-Cendes como Membro

According to the professor, the moment was significant for valuing science produced in the Global South.

“It was inspiring to see so many scientists committed to advancing knowledge and to the social impact of research,” she said.

On the meaning of the recognition, Iscia stated: “It is a great honor and also a responsibility. TWAS represents a commitment to science aimed at improving people’s lives, especially in developing countries. Being recognized for this work motivates me even more to continue advocating for open, inclusive science with real societal impact.”

Iscia Lopes Cendes was elected in 2024 and sworn in at the 2025 TWAS congress

The professor believes that her career — combining excellent research, the training of young scientists and the promotion of international collaboration — was decisive for this achievement.

“I have always believed that doing science in Brazil — and for Brazil — is possible and essential, and I have sought to demonstrate this throughout my career,” she emphasized.

For Iscia, the recognition reinforces Unicamp’s role as a center of scientific excellence and serves as an inspiration for new generations.

Nísia Trindade, former Minister of Health and speaker at the Symposium on Health in the Global South

Regarding the integration of Brazil and Latin America into the international scene, Iscia highlights that there are research groups of excellence and very high‑level science despite the difficulties. “Genetics and genomics in Latin America have demonstrated significant contributions, particularly linked to our genetic diversity and its implications for building the medicine of the future. The applications of genomics in medicine have advanced greatly in the country, contributing to the inclusion of precision medicine and public health in the SUS. What we now need is sustained investment and policies that ensure the knowledge generated here is valued and applied for the benefit of our population,” she said.

“I hope this serves especially as an example to young women who dream of pursuing a scientific career. May they know that it is indeed possible to occupy these spaces and contribute to changing the world through science. At a time when scientific thinking is being questioned, we must reaffirm, with conviction, that it is through science that we progress as a society,” concluded Iscia.

TWAS

The World Academy of Sciences for the advancement of science in developing countries (TWAS) was founded in 1983 by a group of scientists from the developing world, under the leadership of Abdus Salam, the Pakistani physicist and Nobel laureate. TWAS is associated with the United Nations Educational, Scientific and Cultural Organization (UNESCO) and works to support sustainable prosperity through research, education, policy and diplomacy. The organization has members from more than 100 countries.

Helena Nader, president of the Brazilian Academy of Sciences (ABC) and co‑organizer of the event, addresses the audience

Article originally published on Agência FAPESP

Expanding genomics in public policy requires greater awareness, professional training, and investment

Luciana Constantino | Agência FAPESP – The lack of knowledge about the benefits of human genomics for public and individual health, combined with a shortage of qualified professionals and low investment, is among the challenges countries must overcome to implement equitable public policies in the field.
To tackle these issues, it is essential to launch initiatives that clearly communicate genomics’ potential to different audiences, involving all relevant stakeholders. Additionally, implementing actions based on local priorities and international best practices is a pathway to pursue. The goal is to broaden the use of genomics in research and clinical practice, advancing the prevention, diagnosis, and treatment of various diseases.

This overview is detailed in the first article published by the Technical Advisory Group on Genomics (TAG-G) of the World Health Organization (WHO) in the journal Nature Medicine.

READ THE ARTICLE

Ambrosino, E., Abou Tayoun, A.N., Abramowicz, M. et al. The WHO genomics program of work for equitable implementation of human genomics for global health. Nat Med 30, 2711–2713 (2024). https://doi.org/10.1038/s41591-024-03225-x

Composed of international experts and chaired by Brazilian neuroscientist Iscia Lopes-Cendes, the group’s role includes highlighting opportunities and existing experiences in the field, providing technical guidance, and recommending priority activities to accelerate access to these technologies.

Genomics is the study of the complete set of genes (the genome) of organisms, how they function, and how they interact with each other and the environment. This knowledge enables disease prevention, diagnosis, and even personalized treatment for conditions ranging from rare diseases to various types of cancer. It is a multidisciplinary scientific field offering insights into areas like clinical care, food safety, and infection control.

“The group decided to publish the article in a scientific journal to raise awareness and broaden the reach of the subject and our work. WHO reports are important but don’t always reach a large audience. We aim to provide this information to decision-makers worldwide, as well as the medical and scientific communities. We want to list challenges and propose actionable points that governments, physicians, researchers, and even society can use to advocate for public policy implementation,” Lopes-Cendes told Agência FAPESP.

A professor at the Faculty of Medical Sciences at the University of Campinas (FCM-Unicamp), she is also one of the leading scientists at the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), a Research, Innovation, and Dissemination Center (CEPID) supported by FAPESP and based at Unicamp.

The ‘inheritance’

DNA acts as a kind of “instruction manual” present in every cell of the body, responsible for storing and transmitting genetic information inherited from parents. It influences everything from eye color to the risk of developing diseases over a lifetime.
The publication of the first draft of the human genome in Nature in 2001 – containing a sequence of more than 3 billion base pairs – accelerated the development of genomic tools. Advances and improvements in these technologies and genetic tests have contributed to individual health and the creation of more precise public policies.

These tests analyze a person’s DNA to identify mutations or alterations that may increase disease risks or even cause them. They provide critical insights into the likelihood of developing conditions like diabetes, heart disease, or autoimmune disorders, allowing for preventive and targeted treatments.

DNA analyses also reveal public health trends, such as a region’s higher propensity for certain diseases, enabling the creation of specific programs or projects to address these health challenges.

However, access to these technologies remains limited, with significant disparities between countries and high research and implementation costs. In Brazil, genetic tests are available in private networks, and the public health system (SUS) is gradually implementing certain initiatives.

The National Genomics and Precision Health Program (Genomas Brasil), launched in 2020, was revamped last year to establish the foundation for developing public precision health. In August, the Ministry of Health issued a public call for research lines in the field, with an investment of R$ 100 million.

Another challenge is the shortage of geneticists. While WHO recommends one geneticist for every 100,000 inhabitants, Brazil has one for every 520,000 people. Despite doubling in a decade, only 407 professionals are registered, according to the publication Demografia Médica no Brasil 2023.

“There is a significant demand for specialized professional training in this field. For instance, conducting genetic tests requires genetic counselors, a role that cannot solely rely on geneticists, who are already scarce. In Brazil and several Latin American countries, this profession is not even regulated, although there are some professional master’s courses,” Lopes-Cendes says. In this context, the article advocates for supporting education and training in genomics.

The group also recommends communication efforts targeting multiple audiences – such as governments, decision-makers, funders, and society – to emphasize the potential of the field and outline relevant considerations for individual and public health. These efforts can include videos, posters, brochures, and infographics.

Researchers further highlight that to build evidence on the economic value of human genomics in healthcare, investment scenarios are being developed, considering specific diseases and genetic diversity. Depending on the context, cases might include prenatal or neonatal screening for diseases like thalassemia, tests for hereditary cancer risk, or pharmacogenomics to optimize therapies and reduce adverse effects.

The origin of TAG-G

TAG-G was established in September 2023 to provide WHO with technical advice on genomics and support efforts to accelerate access to genomic technologies, particularly in low- and middle-income countries. The mandate lasts for two years.
In May 2024, the Pan American Health Organization (PAHO) held a regional meeting as a first step to promote the implementation of genomics in clinical medicine, public health, and research strengthening in the Americas, with TAG-G members participating.

“Such meetings are vital for fostering collaboration among countries and regions with specific needs and demands. Our TAG-G mandate continues for another year and may be extended for the same group or new members. We will keep advancing these guidelines,” concludes the TAG-G chair.

The article The WHO genomics program of work for equitable implementation of human genomics for global health can be read at: https://www.nature.com/articles/s41591-024-03225-x.

On November 11, 2024, the State University of Campinas (UNICAMP) hosted the workshop “Single-Cell Omic Fusion: Navigating Spatial Omics in Biomedical Research,” a landmark event for disseminating and exchanging expertise on single-cell and spatial technologies in Brazil. Organized by Dr. Iscia Lopes-Cendes (UNICAMP – Campinas, Brazil) and PhD candidate Jaqueline Geraldis  (UNICAMP – Campinas, Brazil), the workshop brought together experts and students to explore the impact of these innovative approaches on biomedical research.

Launch of Single-Cell and Spatial Omics Brazil

Beyond expanding technical know-how, the workshop marked the official launch of Single-Cell and Spatial Omics Brazil, a scientific community dedicated to fostering collaboration and advancing the field nationwide. With crucial support from the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN) and UNICAMP, and sponsorship from Illumina, the program featured inspiring talks from renowned specialists such as:

• Dr. Danielle Bruno (Royal College of Surgeons in Ireland – Dublin, Ireland)
• Dr. Sergio Espinola (European Molecular Biology Laboratory – Heidelberg, Germany)
• Dr. Adriana Paes Leme (National Center for Research in Energy and Materials (CNPEM) – Campinas, Brazil)

The participants highlighted the workshop’s impact in promoting productive discussions across all stages of cell-based assays, from sample preparation to data analysis. This exchange of experiences was fundamental for strengthening the scientific network, which pledges to maintain dialogue and expand collaborative initiatives.

We are thrilled by the success of this inaugural meeting and are already planning new events for 2025, aiming to establish Single-Cell and Spatial Omics Brazil as a reference in the field. If you couldn’t join us this time, we invite you to participate in upcoming opportunities and contribute to the evolution of science in Brazil!

Get in touch with us via the link below:

The tenth edition of the BRAINN Congress was celebrated in 2024, held from April 3rd to 5th, 2024, in the auditoriums of the Faculty of Medical Sciences (FCM) at the State University of Campinas (UNICAMP). The event was organized by the Brazilian Research Institute on Neuroscience and Neurotechnology (BRAINN), a Research, Innovation, and Dissemination Center (RICD) at FAPESP.

This year, more than 180 researchers, students, and attendees participated in the event, which featured 123 submitted works. These works will be published in the Journal of Epilepsy and Clinical Neurophysiology.

International scientists lectured throughout the 3-day event. Dr. Mariana Bento, an assistant professor at the Schulich School of Engineering, University of Calgary, discussed the use of machine learning to improve brain imaging. Dr. Matthias Van Osch, a professor of experimental cerebrovascular imaging at Leiden University in the Netherlands, presented non-invasive strategies for obtaining brain images. From Brazil, Dr. Daniel Papoti, an adjunct professor of Biomedical Engineering at the Federal University of ABC, lectured on radiofrequency coil technologies for brain imaging.

Also participating in the event were BRAINN researchers Dr. Fernando Cendes, Dr. Gabriela Castellano, Dr. Iscia Lopes-Cendes, and Dr. Lília Freire Li, with lectures on various topics in neuroscience. The presentations explored topics ranging from the panorama of genetic research in epilepsy over the past 30 years (Iscia) to brain changes post-rehabilitation training (Gabriela) and the challenges and controversies in classroom learning (Lília).

Awards

Each edition, the Congress awards students and researchers with the Best Paper Awards, in the categories “Oral Presentations” and “Poster Presentations”. Check out the list of winners of the 10th edition below:

Oral Session Winners

Undergraduate:

• Mariana L. Han (Faculdade de Medicina da USP) – Insights into Post-COVID Anosmia: unraveling neural alterations through 7T MRI and DTI analysis of olfactory pathways
• Vitor A. Oya (UNICAMP) – Seed-based functional connectivity changes in elderly subjects playing serious games

Master’s:

• Rodrigo M. C. Carvalho (Federal University of ABC) – A Novel Method to Investigate Neurodevelopment Using Ising Temperature and Graph Neural Networks

Doctorate:

• Rafael Batista João (UNICAMP) – Comparisons between traditional and brief, and ultra-brief anxiety and depression inventories in people with epilepsy

Post-Doctorate:

• Gabriel Chaves de Melo (UNICAMP) – Timing Investigation of EEG Functional Connectivity Changes During a Motor Imagery Task

Poster Session Winners

Undergraduate:

• Lucas F. Teodosio (Unicamp) – Analysis of the Neural Correlates of Problem Solving in Physics Measured with Functional Near-Infrared
• Thierry K. Alves Silva Souza (Unicamp) – Hypothalamic Changes and Post-COVID Symptoms

Master’s:

• Caetano Ternes Coimbra (UNICAMP) – Exploring the relationship between physiological and inertial characteristics in induced tremor events

Doctorate:

• Ricardo Brioschi (Unicamp) – Persistent seizures modify supra and infratentorial Gray Matter in Idiopathic Generalized Epilepsy

Post-Doctorate:

• Kauê T. N. Duarte (University of Calgary) – Exploratory Prenatal Alcohol Exposure classification in infants using brain MR: 3D Convolutional Neural Networks assisted by Data Augmentation

August 31st, 2021  | by WebContent

RICD BRAINN is among 17 groups chosen in 14 countries by the Chan Zuckerberg Initiative, one of the world’s largest philanthropic and science aid institutions, to receive support for conducting research that aims to understand, prevent and treat childhood illnesses. In total, the studies will receive more than US$30 million in funding.

BRAINN researchers lead the project.

The selected BRAINN project will be coordinated by researchers Diogo Troggian Veiga, Fernando Cendes (BRAINN´s main researcher) and Iscia Lopes-Cendes, all from University of Campinas (Unicamp) in Brazil, and Claudia Kleinman, from McGill University in Canada. Among the 17 projects awarded by Chan Zuckerberg, this is the only one that will feature research being carried out in Latin America.

The complete list of projects approved by the initiative can be seen at the link below.

“One thing we know for sure is that diseases – including the rarest ones – don’t randomly arise throughout life. Most of them start in childhood or old age, which reveals the importance of understanding not only the normal state of adult health, but also how health develops before and after birth, and how it is maintained or degenerated as we get older.

That’s why we’ve launched the research funding initiative that will help researchers and pediatricians map healthy cells in pediatric tissues and thus aid in the understanding, prevention and treatment of disease.”

– CHAN ZUCKERBERG INITIATIVE

PROJECT SUMMARY

The study that the BRAINN researchers will carry out aims to create a ‘cellular atlas’ of child’s brains through genetic analysis of cells from healthy tissues from five different regions of the organ, obtained from seven donors.

An important part of the study is that the chromatin and transcriptome conformation information will be obtained at single-cell resolution, using revolutionary and modern technologies for such investigation (learn more about single-cell technologies below).

All study results will be freely accessible by the research community through the Human Cell Atlas, providing references that will help scientists around the world to better understand children´s brains, how they develop, and how diseases that affect kids arise and progress. The Human Cell Atlas is a scientific consortium with more than 2,000 members in 75 countries, aiming to share information at the cellular level – the fundamental unit of biology and life – about the human body and create an ‘atlas’ of all kinds of cells – among the 37 trillion total cells our bodies have.

The 17 projects funded by the Chan Zuckerberg Initiative form the new ‘Pediatric Networks’ of the Human Cell Atlas, and the results of all of them will be available on the platform.

WHAT ARE SINGLE-CELL STUDIES?

In 2013, the journal “Nature Methods,” part of the respected Nature group of scientific publications, named single-cell sequencing technologies the “technology of the year” for their potential to uncover new data and elucidate relevant questions in biology.

In simple terms, these technologies are capable of obtaining detailed genetic information from a single cell – in comparison, modern genome and transcriptome analysis techniques are based on an “average” of data obtained from a large number of cells.

“Single-cell technologies have an incredible potential to accelerate the achievement of scientific knowledge by allowing researchers to understand how cells and organs develop and relate to pediatric diseases,” said the head of the Science Program for Chan Zuckerberg Initiative Single Cell Biology, Jonah Cool.

This hyperspecific resolution allows researchers to study, in detail never before obtained, differences between cells and also the evolutionary relationships between them, creating ‘cell maps’ based on similarities and opening up a panorama of useful information in various fields of study, such as research on cancer, neurology, microbiology, reproduction and immunology.

For more information on single-cell technologies, watch the following presentation, released by the Human Cell Atlas:

THE CHAN ZUCKERBERG INITIATIVE

If the name “Zuckerberg” caught your eye when you read the name of the project’s funding organization, it does indeed refer to the owner of the largest social network in history.

The Chan Zuckerberg Initiative is a philanthropic organization founded in 2015 by Facebook creator Mark Zuckerberg and his wife Priscilla Chan. Both promised to invest up to 99% of the profits they make with the social network’s actions in this initiative. Among the various areas the couple helps – from studies on neglected diseases to educational and safety issues in communities –, support for Science and child health are a highlight – Priscilla has worked for years as a teacher and pediatrician, caring for children in situations of risk. The organization’s mission, according to its website, is “to build a more inclusive, fair and healthy future for all”. More information can be found at www.chanzuckerberg.com.

José Tadeu Arantes | Agência FAPESP – Evolutionary adaptations that occurred in the past may have left the population of Campinas and nearby locations in the State of São Paulo with a greater genetic propensity to accumulate sugars and fats in the body and, consequently, predisposed to develop diseases such as obesity and diabetes.

This is the conclusion of a study published in the Scientific Reports magazine by researchers from the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), a Research, Innovation and Dissemination Center (CEPID) supported by FAPESP at the State University of Campinas (Unicamp).

The investigation was coordinated by Iscia Lopes-Cendes, head of the Molecular Genetics Laboratory at the Faculty of Medical Sciences at Unicamp, within the scope of the Brazilian Precision Medicine Initiative (BIPMed), also supported by FAPESP.

“We mapped about 900 thousand genetic markers distributed in the genomes of 264 people in the region of Campinas. It was the first study done with this level of resolution in Brazil. Most of the ancestral studies carried out in the Brazilian population used no more than 40 markers ”, Lopes-Cendes told Agência FAPESP.

The genomic data were obtained from volunteers without a specific disease, but which represent the genetic diversity of individuals treated at Unicamp’s Hospital de Clínicas. The sample was designed to explore in detail the so-called “local ancestry”. The expression does not refer to the geographical location, but to the genomic location. That is, the researchers investigated all regions of the genome to find out the origin – whether European, African, indigenous or other – of each marker. “Until we carried out the research, we had no idea of ​​the enormous variability in the distribution of local ancestry in the Brazilian population. It was something that surprised us, ”said Lopes-Cendes.

Due to the significant presence of descendants of immigrants from southern Europe in the interior of São Paulo, mainly Italians, the mapped genomes showed a strong predominance of markers of European origin, in the range of 80%, with the remaining 20% ​​distributed, almost half and half , between African and indigenous ancestry.

However, what particularly intrigued the researchers and motivated the article published in Scientific Reports was that the 10% of indigenous ancestry provided the most relevant element from the point of view of public health: the PPP1R3B gene, associated with the body’s ability to accumulate glucose and lipids, and, therefore, predisposing to the development of obesity and related metabolic syndromes, such as type 2 diabetes.

“We did the analysis of the distribution of local ancestry. And we found that it was quite homogeneous across most of the genome, except in a specific region on chromosome 8, where the PPP1R3B gene is located. In this region, we see an increased representation of segments of indigenous origin and a significant decrease in segments of European and African origin. This required a lot of calculation, a lot of checking, it was quite heavy work from a mathematical point of view. But he led us to the conclusion that there really is a deviation from local ancestry in this region, ”said Lopes-Cendes.

To explain the deviation, the researchers formulated the hypothesis that, most likely, this region of chromosome 8 has been subjected to a process of selective pressure in the past, aimed at better adapting individuals to the environment. At a time when food was scarce, the PPP1R3B gene, related to the accumulation of glycids and lipids, would give its carriers an evolutionary advantage, allowing them to live longer, reproduce more, and transmit this trait to offspring.

But what was an advantage in the past has become a problem in the present, in a context of high caloric intake and physical inactivity, aggravated by habits such as smoking and excessive alcohol consumption.

“This information is extremely important from the point of view of public health. We raised the hypothesis that, most likely, it exists in the population of the region of Campinas – and we are confirming this in populations of other regions of the State of São Paulo as well – an increased genetic predisposition for obesity and its complications. If I were the manager of the public health system in the region, I would place great emphasis on obesity and diabetes prevention programs, with specific teams to promote changes in eating habits, encourage the practice of physical exercise and warn about the dangers of smoking and alcohol intake, ”said Lopes-Cendes.

Precision Medicine

With this objective, the researcher has presented the results of the research in different forums, opening a dialogue with academics in the health sector, especially in the area of ​​epidemiology. “This is a process that we call‘ implementing science or medicine ‘, that is, implementing in practice, especially in medical practice, what we have discovered with scientific research, “he said.

“Our goal is to apply the results in precision medicine. Given the genetic characteristics of the Brazilian population, extremely heterogeneous, it is likely that each medical center that wants to implement the practices of precision medicine will have to do this type of study in its population of interest. This mapping is very important because we know, in medicine, that the greater or lesser predisposition to this or that disease depends on the presence of certain genes in specific regions of the genome, that is, on local ancestry ”, he said.

The research was conducted during the postdoctoral research by Rodrigo Secolin, lead author of the article and FAPESP scholarship holder.

The article Distribution of local ancestry and evidence of adaptation in admixed populations, by Rodrigo Secolin, Alex Mas-Sandoval, Lara R. Arauna, Fábio R. Torres, Tânia K. de Araujo, Marilza L. Santos, Cristiane S. Rocha, Benilton S. Carvalho, Fernando Cendes, Iscia Lopes-Cendes and David Comas, for being accessed at www.nature.com/articles/s41598-019-50362-2.

This text was originally published by Agência FAPESP according to the Creative Commons CC-BY-NC-ND licence. Read the original version here (in Portuguese).

Another group of researchers is using analysis of patient levels of two microRNAs, genetic markers that serve as indicators of Amyotrophic Lateral Sclerosis (ALS) – the disease that affected British physicist Stephen Hawking.

A third study, also on epilepsy, suggests that deregulation of the NEUROG2 gene is related to the appearance of focal cortical dysplasia – a brain defect that is one of the most common causes of medically refractory epilepsy. With identification of this biomarker, it will be possible to indicate various treatments such as surgery for patients who suffer from drug-resistant epilepsy.

The three studies include participation by researchers from the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), a Research, Innovation and Dissemination Center (RIDC) funded by FAPESP, headquartered at the University of Campinas (Unicamp).

“Our objective is to develop new methods and techniques to improve our understanding of how to treat and prevent debilitating diseases and conditions that affect the brain, such as epilepsy and cerebral vascular accident (CVA). We are also interested in studying diseases that cause dementia or motor problems, as in the case of ALS,” said Iscia Cendes, principal investigator of BRAINN, in a talk given at FAPESP Week New York – held at the City University of New York (CUNY) November 26-28, 2018, the meeting involved Brazilian and U.S. researchers with the aim of strengthening research partnerships.

“Human beings, just like the diseases we are studying, are very complex. That is why we think that participation in consortia and partnerships is the best way to leverage our discoveries,” Cendes said.

The researcher said that since the establishment of BRAINN, in 2013, the number of big data projects in neuroscience has increased. Examples of these types of projects include the BRAIN initiative in the United States, the Human Brain Mapping initiative in Europe, the Alzheimer’s Disease Neuroimaging Initiative (ADNI), the International League Against Epilepsy (ILAE) and the ENIGMA consortium.

“Big data efforts have become the modus operandi of neuroscience, replacing small-scale science based on hypotheses,” she said.

It is no coincidence that Cendes says that the next BRAINN projects will include advancing longitudinal studies. “That is one of our strong points as a group,” she added.

BIPMED

Another BRAINN proposal is reducing the gap between basic biological research and its clinical application. One of the lines of research for that purpose is the Brazilian Initiative on Precision Medicine (BIPMed), an initiative created in 2015 by five FAPESP-funded RIDCs.

“The first BIPMed product was creation of a database of genomes corresponding to healthy individuals and those with specific diseases. There are currently more than 900,000 genetic variants deposited in the database,” she said.

The database includes deposits of genomes related to epileptic encephalopathies, craniofacial anomalies, breast cancer, hereditary deafness and neurofibromatosis, and in 2019, sequences related to lupus will be added.

September 21, 2017     Redação WebContent

The review study ‘The New World of RNAs’, co-written by BRAINN researcher Iscia Lopes-Cendes, is the fifth most cited paper over the last five years published on Genetics and Molecular Biology, according to statistics from Web of Science.

The 2014 study highlights the recent discoveries about two kinds of non-coding RNAs: the microRNAs and the small interfering RNAs (siRNAs). The article offers a comprehensive overview over these topics, discussing the biogenesis, functions and potential therapeutic uses of these RNAs in a number of human diseases, either as biomarkers or as regulators of the expression of specific genes.

CEPID BRAINN congratulates Dra. Iscia Lopes-Cendes for this important – and impactful – metric!

TO LEARN MORE

• Dogini DB, Pascoal VD, Avansini SH, Vieira AS, Pereira TC, Lopes-Cendes I. The new world of RNAs. Genet Mol Biol. 2014 Mar; 37(1 Suppl): 285-293.

August 28th, 2017     

The Neurogenetics Clinic at Unicamp´s Hospital das Clínicas was created in August 1997.

On August 19, 2017, a technical-scientific event was held to commemorate its 20 years of activity. Several lectures on various genetic diseases were presented by specialists who work on the Clinic.

For those who could not participate in the event and also to those who wish to understand a little more about this interesting subject, we interviewed Professor Iscia Lopes-Cendes, idealizer of the Neurogenetics Clinic. Professor Iscia is a lecturer at the Faculty of Medical Sciences / Unicamp and a researcher at CEPID BRAINN.

BRAINN: Do you believe that genetic tests can become popular to the point that young people may regularly employ them, in order to anticipate the prevention of hereditary and / or genetic diseases like diabetes, hypertension and cholesterol?

Professor Iscia: Yes, this should happen in the future when we are able to calculate the risks of disease in the most complex hereditary conditions, which is the case of diabetes, hypertension and dyslipidemias (high cholesterol). Right now, however, our knowledge about the predisposing genes in these multifactorial diseases (which are caused by genetic and environmental factors) is limited, and that does not allow using genetic tests to establish the risks for these diseases.

BRAINN: Could you briefly explain the difference between genetics and heredity? They do not mean the same thing, right?

Professor Iscia: Exactly. ‘Genetic’ means that the disease is caused by a change in DNA or chromosomes and ‘hereditary’ means that it can be passed from one generation to another or from parent to son / daughter. There are diseases that are genetic but not hereditary, an example of which is cancer, that is a genetic disease in all cases (there is always a change in the DNA or chromosomes of the cancer cell), but only 10% of the cases are hereditary (ie, can be passed from one generation to another or inherited).

BRAINN: What’s the difference between neuropathy and dystonia?

Professor Iscia:Neuropathies are diseases of the nerves or the peripheral nervous system (outside the brain). As for dystonia, it is a disease in which there is a change of movement or an abnormal movement and it is caused by a functional alteration of certain regions of the brain (inside the brain).

BRAINN: How are dystonias diagnosed? Only through genetic testing?

Professor Iscia: No, quite the contrary, the diagnosis is clinical and only in the minority of patients do we find genetic defects that can cause the disease. From a practical point of view, the use of genetic testing is still limited in dystonias, and for most patients it will have negative results – especially in Brazil, where we show that the number of patients with this disease and the presence of mutations are lower than in other countries. This may be due to the fact that the cause of dystonias in Brazilian patients has not yet been adequately studied.

BRAINN: What are hereditary choreas?

Professor Iscia: These are diseases in which patients present an abnormal and involuntary movement called “chorea” and are transmitted genetically, usually following a model of autosomal dominant inheritance. The most common form of hereditary chorea is Huntington’s disease.

BRAINN: Could you give us a little insight into how precision medicine can revolutionize the way diagnosis are made, especially in the case of rare diseases? And how the diagnostic process – that is, naming the disease – can somehow relieve the patient’s pain?

Professor Iscia: Precision medicine seeks to identify and treat the disease in a way specific to each patient. In this context, genomic medicine is very relevant for the practice of precision medicine and seeks to assist in delivering a faster and more accurate diagnosis of the genetic defects that cause the diseases. In addition, it can identify genetic changes that will impact treatment, such as variations that may modulate response to medications by decreasing its effects or increasing the chance of side effects. If we can identify these variations, called pharmacogenomics, we can prescribe in the future more efficient medications with fewer side effects. In addition, every patient has the right to know exactly what his diagnosis is, and this even includes knowing exactly what genetic defect (or mutation) he/she has that causes the disease, since this can help the patient better understand the illness and, hence, accept it better. Identifying the genetic etiology of a disease can be very important for the family and for making decisions about the future as well. Therefore, we doctors always have to offer the most advanced technology to get a diagnosis, even if this does not change the treatment that we give to the patient.

If you have further questions about this subject, please send a message through BRAINN‘s Facebook.

Information on how to be referred to the Neurogenetic Clinic at UNICAMP´s Hospital das Clínicas can be obtained at the health unit closest to your residence.