HD in South America
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South America is a region rich with the history of Huntington’s disease. Within this continent, important and necessary research for the discovery of the HD gene has taken place. This research can be attributed to the fact that the largest concentration of families in the world affected by HD lives here. Despite the importance of South American populations to HD research, resources for HD patients in this region are few and far between.
This section of Global HD aims to highlight countries in South America that have history and significance within the HD context.
Please stay tuned as we update this site with more country-specific information.
The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.
Huntington’s disease is the most prevalent polynucleotide disorder in South America. In Venezuela, the overall prevalence of HD is 1 in 20,000 people. However, Maracaibo, one of the most northern lake regions in the country, has a prevalence of 7 cases per 100 people. As a result, Venezuela is an extremely important country in the context of global HD.
Americo Negrette was born in Venezuela in 1923 and studied medicine at the Central University of Venezuela. In 1942, while instructing in the San Francisco region of Maracaibo, Negrette noticed patients walking throughout the streets with strange gaits, referred to by the local people as “Sanviteros.” The hereditary disease, which Negrette accurately identified as HD, was called “el mal de San Vito” (the illness of San Vito). In 1955, Negrette presented his clinical observations at the Sixth Medical Sciences Congress in Venezuela. In 1963, he devoted two sections of his book to HD and its expression in his patients.
Years later, after the death of Dr. Negrette, a student trained under his direction published information on cases of HD in the Maracaibo region. Negrette’s student had unknowingly located the population that would lead to many discoveries concerning the genetic origins of HD.
In 1979, Nancy Wexler, an American scientist, and her team began a collaboration with the affected families of Maracaibo. Due to breakthroughs in recombinant DNA research, the “Gene Hunter team”, as they were called, were able to initiate a study in which they created pedigrees, or family trees, of the vast network of HD patients in the region. Because the genealogy record was so thorough, the researchers were able to discover that all the residents of Lake Maracaibo had a common ancestor, Maria Concepcion Soto, who first arrived in the region sometime in the 19th century. She is considered the “founder” since approximately 20,000 descendants at risk for HD could be traced back to her.
With this wealth of data, the team was able to narrow down the location of the HD gene in 1983. This discovery was a huge scientific breakthrough, not only in the search for a HD cure, but also for understanding genetic inheritance.
Casa Hogar Amor y Fe (House of Love and Hope)
Casa Hogar Amore y Fe, The House of Love and Hope, was created in 1999 as a thank you to the families of Maracaibo who had contributed to the scientific advancements in HD research. Due to the immense poverty and lack of resource in the area, Casa Hogar serves as a support system for those suffering from Huntington’s disease.
Asociacion Venezolana de Huntington
The Venezuelan Association for Huntington’s offers resources and information relating to Huntington’s disease. The website is in Spanish and focuses on treatments, medical connections, and clinics available to Venezuelans.
Peru contains the second largest population of HD patients in South America. This country bordering the Pacific Ocean contains significant potential for epidemiology research, but so little has been invested in it to date. Similarly to other affected regions within South America, Peru still struggles with providing basic resources to those affected by Huntington’s disease. While some researchers have initiated research in the region, progress is still its beginning stages.
The first family identified with Huntington’s disease was discovered in 1952 in the northern region of Peru. In 1980, the first cases of HD were identified in Cañete. This region, south of the capital of Peru, Lima, has a prevalence of 45 cases per 100,000 individuals. It is the second largest concentration of Huntington’s disease in Latin America. Scientists have discovered that the prevalence weakens the further the distance from Cañete, meaning the further one travels from Cañete, the smaller the population of HD patients becomes.
Dr. Carlos Cosentino
Dr. Carlos Cosentino is a Peruvian researcher studying the region of Cañete. He has researched its prevalence, as well as created some of the first clinical trials and research projects for the disease in the entire country. While resources in Peru are vastly underfunded for those with Huntington’s disease, Dr. Cosentino is doing his best to provide services such as genetic counseling and family support to those affected.
Huntington Society of Peru
This society does not have a website, but inquiries can be sent to Maria Begazo Viza. To contact her, e-mail mbegazo8@LatinMail.com
Update: Huntington’s Disease in Peru^
Author: Amanda Szerdi
The National Institute of Neurological Sciences, located in Lima, is the primary medical facility in Peru that can provide patients with a definitive Huntington’s Disease diagnosis. In June of 2011, Peru passed La Ley de Enfermedades Huérfanas or the “Rare and Orphan Illness Act.” This law provides funding for additional medical treatment and awareness initiatives for individuals affected by diseases, such as Huntington’s, that result in death or chronic disability. Federal programs and the Seguro Integral de Salud (SIS) cover the costs of appointments, transportation to clinics, treatments, and hospitalizations. Additionally, the Ministry of Health established the last day in February of each year as a “Dia Nacional de Enfermedades Huérfanas o Raras en el Peru” or a “National Rare Diseases Day in Peru.” These policies have helped to raise awareness of Huntington’s disease in Peru while striving to provide better care for patients.
Dr. Miriam Velez works at the National Institute of Neurological Sciences in Lima. She is one of the primary neurologists on staff who specializes in treating Huntington’s disease and neurodegenerative disorders. She, in addition to Dr. Carlos Consentino, are doing their best to offer genetic testing as well as education about Huntington’s disease to HD patients and their family members.
Dr. Pilar Mazzetti became interested in neurology while studying to become a medical doctor at the National University of San Marcos. She has served as the Minister of Health and the Minister of the Interior in Peru. She currently works at the National Institute of Neurological Sciences in Lima, the primary facility in Peru where Huntington’s disease is diagnosed and treated. Dr. Mazzetti has worked to introduce and develop the practice of genetic testing for neurological diseases in Peru. Relatively little research had been conducted in Peru in relation to genetic diseases, and researchers such as Dr. Mazzetti face many challenges while completing their work. Research typically does not receive sufficient funding and must be completed by doctors after caring for their regular patients at the clinic. Dr. Mazzetti’s recent work has focused on the psychiatric symptoms of HD patients in Peru as well as the genetic origins of HD in Peruvian populations.
Dr. Cornejo is the director of neurogenetics at the National Institute of Neurological Sciences in Lima. He has studied neurology and genetics in both Peru and at the University of Washington, located in Seattle. Dr. Cornejo has worked on neurogenetic studies for a variety of neurodegenerative diseases including Huntington’s Disease. He has worked with Dr. Pilar Mazzetti researching the genetic origins of Huntington’s Disease in Peruvian populations.
Source: National Institute of Neurological Sciences website < http://incngen.org.pe/>
Web pages with information regarding health insurance and care provided by the National Institute of Neurological Sciences can be found below:
National register for individuals with rare diseases:
Registro Peruano de enfermedades raras y huerfanas: <http://www.minsa.gob.pe/erh/normas.html>
Peruvian Ministry of Health:
Ministerio de Salud de Peru, pagina de seguros medicos: <http://www.sis.gob.pe/nuevoPortal/>
National Institute for the Neurological Sciences website:
Sitio web para el Instituto Nacional de Ciencias Neurologicas:
A huge thanks goes out to Doctor Miriam Velez for her help in acquiring additional information regarding how patients in Canete, Peru and surrounding areas receive care for Huntington’s Disease. While living in Peru during the summer, I contacted Dr. Velez as a HOPES student researcher. She agreed to meet with me in person at the National Institute of Neurological Sciences in Lima so that I could better understand treatment options for Huntington’s Disease patients in Peru. The hospital where patients with neurodegenerative diseases are treated is not far from popular sites such as the Monastery of San Francisco and the historical district of Lima. I was accompanied by a close friend, Cindy Maximiliano, who also lives in Lima. Her help was also essential in locating the hospital and interviewing Dr. Velez.
We were extremely fortunate to briefly visit with Dr. Velez between patient visits. She described to us how her interest in neurological disorders developed as she began to study medicine. She also informed us that the Instituto Nacional de Ciencias Neurologicas is the only clinic in all of Peru that can provide the necessary genetic tests to provide a formal Huntington’s diagnosis to any individual. Similarly, she described to us the different national health insurance programs that provide transportation to the clinic and pay for the healthcare of those with Huntington’s Disease in Peru. While many policies have been developed to improve care for patients, receiving funds is often a long process that takes time. Furthermore, loosely enforced medical regulations can make it difficult to standardize care. The visit was one of the most impactful experiences during my tim
In a country of over 15 million people, there are currently only 300 reported cases of Huntington’s disease, many of them recorded in major cities such as Santiago. The Chilean Huntington Society believes there to be a higher prevalence, but there have been few efforts or resources available to collect accurate data within Chile, especially in the rural regions, in which 15% of the population resides. Further data analysis is necessary in order to assess the population affected by Huntington’s disease in Chile.
Dr. Claudio Hetz
Dr. Hetz, adjunct professor of immunology and infectious disease at Harvard, serves as co-director of the Instituto de Neurociencia Biomédica de la Universidad de Chile. With a team of scientists in Chile, Dr. Hetz developed a therapeutic virus that, when tested with mice, was found to be highly effective in controlling, even reducing, symptoms of HD. This treatment was applied directly to the brain, reversing nerve damage within the region. While this treatment is not available to humans, the results do indicate promise for future clinical trials (The full scientific article can be accessed here.)
Rodrigo Osorio is a Chilean businessman who serves as the president of the Fundación Chilena de Huntington. Osorio founded Red Latinoamericana de Huntington, an online resource in Spanish that provides information about Huntington’s disease, with resources specific to regions of Latin America. With Osorio’s support, the first day center for Huntington’s disease patients was built last year for those living in Santiago. With the support of projects like Factor-H (see Resources in South America), Osorio and his various organizations seek to provide more basic resources to improve the quality of life for those affected by Huntington’s disease in Latin America.
The majority of Chileans reside in cities (85%), with 40% of urban dwellers living in the capital city, Santiago. Many Huntington’s disease families, that have been identified, reside in this region. In order to support these families, Rodrigo Osorio, the president of the Fundación Chilena de Huntington, recently created a day care center (El Centro Diurno Huntington) for Huntington’s disease patients, built with the support of several Huntington’s disease organizations such as CETRAM, the Agrupacion Chilena de Huntington, and two governmental organizations. After five months in operation, the quality of life for patients who attended the center improved by about 32% overall (as measured on a quality of life index). (To view Odrigo’s presentation at the 2013 World Congress on Huntington’s Disease, click here.) Many regions in Chile lack these type of basic resources for HD families, especially outside urban areas. However, it is often difficult to help these populations because they have not been thoroughly identified or located in Chile. More work in this area must be done in order to allocate resources accordingly.
Agrupacion Chilena de Huntington
This organization has multiple objectives that include providing quality information on psychological treatment, drugs, best care practices, as well as a support network of Chileans affected by this disease.
Biomedical Neuroscience Institute
BNI brings together basic and clinical neuroscientists to 1) explore the structural and functional organization of the brain, 2)produce high-level clinical research, discover new diagnostic and therapeutic approves to improve quality of life for patients with neurological/psychiatric disorders, 3) train a new generation of researchers, and 4)serve as a resource center for specialized medical professionals and the general public. (This description is a rough translation of the website description from Spanish to English)
“Chile.” Wikipedia. Wikimedia Foundation, n.d. Web. 18 Jan. 2014. <http://en.wikipedia.org/wiki/Chile>.
“Estudio: Cómo Es Vivir Con Huntington.” LaSegunda.com. N.p., 16 Mar. 2012. Web. 20 Jan. 2014. <http://www.lasegunda.com/Noticias/Buena-Vida/2012/03/730292/Estudio-Como-es-vivir-con-Huntington>.
Due to the size of a country like Brazil, there are no definite figures of prevalence across the entire country. However, there are specific regions where Huntington’s disease has been located such as Feira Grande in Northern Brazil. Researchers identified 22 cases of HD within the population of 22,000 here. This statistic indicates a prevalence of 1 in 1,000 individuals will develop HD. This rate is due to the high amount of sibling marriages in the region.
There is very little recorded history in Brazil in respect to Huntington’s disease. The social and cultural norms within this country have emphasized secrecy when it comes to families affected by disease. Because of this stigma, scientists have only recently begun studying HD populations due to the slow process of dismantling this stigma.
Researchers, however, now have tentatively determined the origin of the disease in Brazil. Many of the genealogies show traces to Africa, as many Brazilians have Black African ancestors that were forced to South America during the slave trade. However, there does appear to be some variation within these populations, especially as families have interbred. While the genetic form of Huntington’s disease does exist here in Brazil, it appears that African descendants brought with them a Huntington’s disease-like phenotype (HDL). More research is needed to determine the prevalence and history of HD in Brazil.
In September 2013, Brazil hosted the World Congress on Huntington’s disease. This Congress was a significant milestone for Brazilians affected by HD, as the stigma surrounding the disease has hindered social progress here for decades. The disease is often kept a secret by family members; there are no exact estimates on the population count for those affected by HD in Brazil. However, the hosts of the Congress frequently emphasized their excitement of having the Congress in Brazil, as it is a major first step in removing the social stigma.
Dr. Monica Santoro Haddad
Dr. Haddad, director of the Brazilian Academy of Neurology, has actively been supporting Huntington’s disease families during her 25-year career. She has worked with over 400 families at her clinic in the Hospital das Clínicas of the University of Sao Paulo and has even treated some of these families through her private practice (Serbin, 2013).
In an interview conducted by Ken Serbin, Dr. Haddad explains how discrimination in Brazil has created major obstacles in respect to aiding those affected by HD. The stigma carries great weight and prevents people from talking about it with non-family members. Currently, if people affected by the disease do not show symptoms or have not confirmed their genetic status with the test, they often ignore its existence. This response affects the entire HD population in Brazil because very few people are willing to participate in clinical studies, which could help lead to treatments, or ultimately, a cure. Additionally, unlike Americans, Brazilians do not often participate in causes or donate their money to non-profit organizations, causing a major shortage in funding.
Dr. Haddad hopes that the 2013 World Congress, which was held in Rio de Janeiro, promotes the idea of active participation within the Brazilian HD community, as well as increases participation numbers for clinical trials, especially Enroll-HD.
The mission of the association is to provide support and guidance to families affected by the disease, as well as educates professionals about the peculiarities of the disease that should be taken into consideration.
For Further Reading^
Alencar, Lopez, Figueiredo, and Monileó. “Prevalence of Huntington’s Disease in Feira Grande, a Small City in Northeastern Brazil.” Journal of Neurology, Neurosurgery, and Psychiatry (2010): 81. Print.
Burton, Adrian. “Hope, Humanity, and Huntington’s Disease in Latin America.” The Lancet Neurology 12.2 (2013): 133-34. Print.
Serbin, Ken. “At Risk for Huntington’s Disease.” : Brazil’s Big Place on the Huntington’s Disease Map. Cure HD, 2 Apr. 2013. Web. 19 Jan. 2014. <http://curehd.blogspot.com/2013/04/brazils-big-place-on-huntingtons.html>.
Teive, Hélio. “Huntington’s Disease like Phenotype: New Date from Brazil and What We Knew between Heaven and Earth.” Arquivos De Neuro-Psiquiatria 69.3 (2011): 417-18. Web.
Columbia, the neighbor of Venezuela, does not reflect the astronomical prevalence of Huntington’s disease, as in Venezuela. However, there are several key communities experiencing the devastating effects of the disease: Magdalena, Juan de Acosta, Antioquía, Chocó, Medellín, and Bogotá. These regions differ from many other HD regions worldwide, as those affected often live in extreme poverty, which not only affects the well-being of the HD patient, but also adds to the financial, physical, and emotional strain of the family members and caregivers. One of the greatest issues with HD families in these regions is the lack of basic resources.
A lack of everyday resources is often a huge issues for those living with Huntington’s disease in Columbia. Many of these families live in extreme poverty with poorly suited living conditions. These conditions can affect quality of life as food is often scarce, water may not be suitable for drinking, and moving in and out of the home might be impossible.
Factor-H, an organization working to enhance quality of life for this living with HD in South America, is focusing on regions such as Medellín, a large urban dwelling in the central part of Columbia. Medellín is infamous for its vast network of slums and low-income dwellings. Due to financial strain on Huntington’s disease families, many of these individuals experiencing motor symptoms end up in slums. These living conditions can be extremely dangerous for those with motor symptoms as there are often many levels of stairs and alleyways one must navigate in order to make his or her way.
Families with HD in Columbia, and other similar South American countries, face different challenges than families in other countries as they are often dealing with overwhelming poverty. This makes it difficult to provide for an average family, let alone one with multiple people exhibiting signs of HD. Columbia is important in that it highlights the structural support systems required for proper medical care in this region.
Fundacion Huntington de Columbia
This foundation aims to improve the quality of life for those suffering with Huntington’s disease in Columbia. The blog serves as a resource guide and community.
Asociación Colombianos por la Enfermedad de Huntington
The Association serves as a primary resource for families and individuals affected by the disease in Columbia.
Additional Resources in South America^
1. Factor-H (factor-h.org)
A not-for-profit social project to increase awareness about people living with and affected by Huntington’s disease, and to facilitate humanitarian and medical aid to diminish the suffering of local communities in Latin America.
2. Moscovich, Mariana, Renato P. Munhoz, Nilson Becker, Egberto Reis Barbosa, Alberto J. Espay, Roberto Weiser, and Hélio A.G. Teive. “Américo Negrette and Huntington’s Disease.” Arquivos De Neuro-Psiquiatria 69.4 (2011): 711-13. Print.
A journal entry chronicling the work of Américo Negrette, an important historical figure in Huntington’s disease research.
3. Red Latinoamerica de Huntington (rlah.net)
Un grupo de profesionales de la salud, científicos y familiares que aportamos a la investigación en búsqueda de tratamientos efectivos para la Enfermedad de Huntington.
K. Powers 2014