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11th Annual Huntington Disease Research Symposium

UCSF_HD

On September 13th, the UCSF Memory and Aging Center hosted the 11th Annual Huntington Disease Research Symposium. The symposium featured scientists discussing their work in basic science and clinical HD research. It was a great opportunity for HD patients and families to meet local researchers, become more informed about progress in HD research, and learn about ways get involved.

Stem cells figured heavily in the basic science portion of the symposium. Steve Finkbeiner[1] from the Gladstone Institute of UCSF kicked off the conference by discussing among other things, the use of skin or blood samples from HD patients to make stem cells, which then can then be differentiated into brain cells. This process preserves the patient’s genetics and may help more directly test the efficacy of prospective therapies. These stem cells are called induced pluripotent stem cells and induced neuronal stem cells, respectively. Scientist Vikki Wheelock[2] discussed a different kind of stem cell, mesenchymal stem cells, and the potential ability to engineer non-HD mesenchymal stem cells to deliver drug treatments. These stem cells come from adult bone marrow.

Many of the researchers rely on bioinformatics and the use of new research methods like optogenetics to make advancements in understanding HD. For example, Alexandra Nelson[3] discussed her efforts to understand HD’s effects on the brain using optogenetics, a technique that a lab at Stanford pioneered. Optogenetics takes advantage of light sensitive proteins in algae. The genes for these proteins can be packaged inside of a virus and injected into an animal’s brain to make nearby neurons light-sensitive. Through this technique, Alexandra Nelson hopes to understand how the living cells that survive HD can be harnessed to deal with the symptoms.

Three researchers from the Memory and Aging Center at UCSF, Michael Geschwind[4], Natasha Boissier[5], and Erica Pitsch[6], discussed the clinical side of HD research. Overall, despite the acknowledgement of the scientists that many of these treatments and advancements are in preliminary stages, and that clinical research may be halted if it is determined to be ineffective or unsafe, hope was in the air at the symposium.

More Information about the Scientists Involved

[1] Steve Finkbeiner
[2] Vicki Wheelock
[3] Alexandra Nelson
[4] Michael Geschwind
[5] Natasha Boissier
[6] Erica Pitsch

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La enfermedad de Huntington en Sudamérica

Sudamérica es una región rica en la historia de la Enfermedad de Huntington (EH en español o HD en inglés). Dentro de este continente, la investigación ha sido muy importante y necesaria para descubrir el gen que causa la EH.  Esta investigación se puede atribuir principalmente a que la concentración más grande de las familias afectadas en el mundo vive en esa área. A pesar de la importancia que representan las poblaciones de Sudamérica para la investigación de la enfermedad, se carece de recursos suficientes para los pacientes de dicha región.

Esta sección de Global HD tiene como objetivo destacar a aquellos países en Sudamérica que tienen una historia y una significancia en relación al contexto de la Enfermedad de Huntington.

Venezuela^

La visión de conjunto^

La enfermedad Huntington (EH) es el trastorno poli nucleótido más prevalente en Sudamérica. En Venezuela, la prevalencia de la enfermedad es 1 en 20,000 personas.  Sin embargo, Maracaibo, uno de los regiones de los lagos más al norte del país, tiene una prevalencia de 7 casos entre 100 personas. Como resultado de esto, Venezuela es un país muy importante porque hay muchas personas en Maracaibo que pueden avanzar la investigación en relación a esta enfermedad.

La historia^

Americo Negrette nació en Venezuela en 1923 y estudió medicina en la Universidad Central de Venezuela. En 1942, mientras instruía en la región San Francisco de Maracaibo, Negrette se percató de pacientes caminando entre las calles con andares extraños, a quienes las personas de la localidad se refieren como “Santiveros.”  Negrette identificó así la enfermedad hereditaria de Huntington, también conocida como “el mal de San Vito.” En 1955, Negrette presentó sus observaciones clínicas al VI Congreso de las Ciencias Médicas en Venezuela. En 1963, dedicó dos secciones de su libro a la enfermedad y su expresión en sus pacientes.

Años más tarde, Nancy Wexler, una científica americana, y su equipo empezaron a colaborar con las familias afectadas de Maracaibo. Como resultado de los avances en la investigación del ADN recombinante, el “equipo de Gene Hunter,” como se les llamaba, fueron capaces de iniciar un estudio en el que se crearon las genealogías de las familias de la vasta red de los pacientes de la región.

Debido a que el registro de la genealogía fue tan completa, los investigadores fueron capaces de descubrir que todos los residentes del Lago Maracaibo tienen un antepasado común, María Concepción Soto, quien llegó en la región durante el siglo XIX  Ella es considerada la “fundadora” de aproximadamente 20,000 descendientes en riesgo de contraer la enfermedad que se pueden remontar de ella.

Con estos datos, el equipo fue capaz de reducir el lugar específico del gen de la enfermedad de Huntington en 1983. Este descubrimiento fue muy importante, no sólo para buscar una cura, sino que, además, para comprender de la herencia genética.

Los recursos^

Casa Hogar Amor y Fe^

La Casa Hogar Amor y Fe fundada en 1999 gracias a las familias de Maracaibo quienes han contribuido a los avances científicos en la investigación de la enfermedad Huntington. Como resultado de la pobreza y la falta de los recursos en el región, Casa Hogar sirve como un sistema de apoyo para las personas afectadas por la enfermedad.

Para más información sobre la casa, visita hdfoundation.org/html/venzeula_huntington

Asociación Venezolana de Huntington^

La Asociación Venezolana de Huntington tiene muchos recursos e información en relación a la enfermedad Huntington. El sitio es en español y su enfoque es sobre los tratamientos, las conexiones médicas y las clínicas para los venezolanos.

Para más información, visita avehun-venezuela.webnode.com.ve

Perú^

La visión de conjunto^

Perú tiene la segunda población más grande de pacientes con la enfermedad de Huntington  en Sudamérica. Este país cerca del océano pacifico tiene un significante potencial para la investigación epidemiológica, pero no han habido muchas inversiones en el pasado. Similar a otras regiones afectadas en Sudamérica, Perú lucha con la provisión de los recursos básicos a las personas afectados por la Enfermedad de Huntington. Mientras que han sido pocos los investigadores que han iniciado la investigación en esta región, el desarrollo se encuentra en las etapas iniciales.

La historia^

La primera familia identificada con la enfermedad fue descubierta en 1952 en la zona norte del Perú. En 1980, se identificaron los primeros casos de la EH en Cañete. Este poblado, al sur de la capital del Lima, Perú tiene una prevalencia de 45 casos  en cada 100,000 personas. Es la segunda concentración de población más grande en Sudamérica. Los científicos han descubierto que la prevalencia se debilita a medida que se va alejando de Cañete. Por lo tanto, mientras más lejos  se encuentre de Cañete, encontramos menos casos de pacientes con EH.

Investigadores relevantes^

Dr. Carlos Cosentino^

Dr. Carlos Consentino es un investigador peruano que está estudiando la región de Cañete ha investigado su prevalencia y comenzó con una pequeña cantidad de pruebas clínicas y proyectos de investigación para la enfermedad en el país entero. Mientras los recursos en el Perú son escasos para las personas con la enfermedad, el Dr. Cosentino hace su mejor esfuerzo para proporcionar servicios tales como el asesoramiento genético y el apoyo a familias con personas afectadas por la enfermedad.

Los recursos^

La sociedad Huntington de Perú^

Este sociedad no tiene un sitio, pero puede enviar las preguntas a María Begazo Viza cuyo , e-mail es mbegazo8@LatinMail.com

Chile^

La visión de conjunto^

En un país con más de 15 millones de personas, hay sólo 300 casos reportados con la enfermedad de Huntington, la mayoría se encuentran en las ciudades grandes como Santiago. La Agrupación Huntington de Chile cree que hay una prevalencia más alta, pero hay pocos esfuerzos o recursos disponibles para recopilar datos precisos dentro Chile, específicamente en las regiones rurales, en donde el 15% de la población vive. Por lo tanto, se necesita mayor análisis de datos para evaluar la población afectada por la enfermedad en Chile.

Las personas importantes^

Dr. Claudio Hetz^

Dr. Hetz, un profesor de inmunología y enfermedades infecciosas de Harvard, sirve como un co-director del Instituto de Neurociencia Biomédica de la Universidad de Chile. Con un equipo de científicos chilenos, el Dr. Hetz desarrolló un virus terapéutico que al ser examinado con ratones, se encontró ser muy efectivo en el control e incluso en la reducción de los síntomas de la EH. Este tratamiento se aplicó directamente al cerebro para revertir el daño del nervio en la región. Pese a que este tratamiento no está disponible en humanos, los resultados indican un futuro prometedor para futuras pruebas clínicas. (Si desea leer el artículo científico completo se puede acceder aquí).

Rodrigo Osorio^

Rodrigo Osorio es un emprendedor chileno, presidente de la Fundación Chilena de Huntington y fundador de la Red Latinoamericana de Huntington, un recurso, este sitio está en Español que proporciona información sobre la enfermedad, con recursos específicos de las regiones de Latinoamérica. Con el apoyo de Osorio, fue posible la construcción del primer Centro Diurno para enfermos con Huntington que viven en Santiago. Con el apoyo de los proyectos como Factor-H (Ver: Los Recursos en Sudamérica), Osorio y sus organizaciones varias tratan de proporcionar más recursos básicos para mejorar la calidad de vida para las personas afectadas por la enfermedad de Huntington en Latinoamérica.

Los recursos^

La mayoría de chilenos viven en las ciudades (85%), de los cuales un 40% de los habitantes urbanos viven en la capital, Santiago.  Muchas familias con la enfermedad, que han sido identificadas viven en esta región. Para apoyar a estas familias, Rodrigo Osorio recientemente creó el Centro Diurno Huntington para los pacientes afectados por la enfermedad, construyendo esto con el apoyo de muchas organizaciones de Huntington como CETRAM, la Agrupación Chilena y dos organizaciones gubernamentales. Después de cinco meses en ejecución, la calidad de vida de los pacientes que asistieron al centro mejoraron cerca de un 32% (en general, como la medida del índice de la calidad de vida). (Para ver la presentación de Rodrigo al Congreso Mundial de la enfermedad Huntington en 2013,  haga clic aquí). Sin embargo, muchas regiones en Chile carecen de este tipo de recursos básicos para las familias, específicamente fuera de las áreas urbanas. Sin embargo, es complejo ayudar o acceder a estas poblaciones porque no han sido bien identificados o localizadas en Chile. Por lo tanto, se debe desarrollar un trabajo más exhaustivo en esta área para así poder asignar los recursos que correspondan.

Agrupación Chilena de Huntington ^

Esta organización tiene como objetivo el suministrar información de calidad sobre los tratamientos psicológicos, medicamentos y tratamientos  y la mejora de prácticas así como el prestar del red de apoyo para los chilenos afectados por esta enfermedad.

Instituto de Biomédica y Neurociencia ^

Aplicando una estrategia integrada y multidisciplinaria el BNI tiene por objetivos: (i) explorar la organización estructural y funcional del cerebro en condiciones normales y patológicas, tanto a nivel de organismos completos como a nivel celular, (ii) capacitar y organizar a una nueva generación de investigadores y clínicos en un entorno transdisciplinario único, (iii) producir investigación clínica de alto nivel y transferir sus resultados a la sociedad mediante el descubrimiento de nuevos enfoques diagnósticos y terapéuticos para mejorar la calidad de vida de los pacientes neurológicos o con trastornos psiquiátricos, y (iv) convertirse en un centro de recursos para profesionales clínicos especializados y el público en general.

Lectura complementaria^

“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>.

Brasil^

La visión de conjunto^

Como resultado de un país de tan grande extensión como Brasil, no hay números definitivos en relación a la prevalencia de la enfermedad en el país. Sin embargo, hay regiones específicas donde la enfermedad de Huntington ha sido localizada en el sector de Feira Grande en el norte de Brasil. Los investigadores identificaron 22 casos de HD adentro de la población de 22,000 este país. Este número indica una prevalencia de 1 entre 1000 individuos que desarrollará la EH. La prevalencia de EH es resultado del alto número de matrimonios entre hermanos en esta región.

La historia^

No hay un gran registro sobre la historia de Brasil respecto a la enfermedad de Huntington. Las normas culturales y sociales dentro de este país han sido enfáticas a la hora de mantener el secreto dentro de las familias cuando se refiere a la EH. Debido a este estigma, los científicos sólo han comenzado a estudiar las poblaciones como un resultado del lento proceso de desmantelamiento de dicho estigma.

Los investigadores, sin embargo, ahora han determinado – tentativamente- el origen de la enfermedad en Brasil. Muchas de las genealogías muestran rastros de África, dado que muchos brasileros tienen ancestros de negros africanos que fueron forzados a venirse a Sudamérica durante el periodo de esclavitud. Sin embargo, sí parece haber una leve variación dentro de estas poblaciones, especialmente debido a la mezcla entre familias. Ahora bien, pese a que la forma genética de la enfermedad existe aquí in Brasil y pareciera que fueron los descendientes africanos quienes trajeron consigo un fenotipo similar a la EH (HDL). Se requiere de mayor investigación para lograr determinar la prevalencia y la historia de la EH en Brasil.

En Septiembre del 2013, Brasil organizó el congreso mundial de la enfermedad Huntington. Este congreso fue un hito importante para los brasileros afectados, debido principalmente  al estigma que rodea la enfermedad que ha obstaculizado el desarrollo social en la región por décadas. Sin embargo, los anfitriones del congreso destacaron constantemente su emoción al llevar a cabo el congreso en Brasil como una etapa importante en vías de la eliminación del estigma social.

Las personas importantes^

Dr. Monica Santoro Haddad^

Dr. Haddad, director de la Academia Brasileña de Neurología, ha estado apoyando activamente las familias afectadas durante 25 años de su carrera. Ha trabajado con más de 400 familias en el Hospital das Clínicas de la Universidad Sao Paulo  y tratando a un menor porcentaje de éstas en su práctica privada (Serbin, 2013).

En una entrevista que se llevó a cabo para Serbin, Dr. Haddad explica como la discriminación en Brasil ha generado grandes obstáculos para ayudar a las personas afectadas por la EH. Como ya mencionamos anteriormente, el estigma tiene un gran peso en lo que previene a las personas afectadas por la enfermedad a hablar de ésta con personas que no son parte de sus familias. Ahora, si una persona afectada no muestra síntomas o si no han confirmado su estatus genético con un examen, ignoran su existencia. Esta repuesta afecta a la población entera con EH en Brasil porque sólo hay un grupo pequeño de personas que están dispuestas a participar en los estudios clínicos, que puede ayudar a conducir a tratamientos y finalmente, una cura para la enfermedad. También, y a diferencia de lo que sucede en los E.E.U.U., los brasileños no participan activamente por la causa ni donan dinero a las organizaciones sin lucro, causando una gran escasez en el financiamiento.

El Dr. Haddad espera que el Congreso mundial 2013, que se celebró en Rio de Janeiro, promueva la idea de la participación al interior de la comunidad Brasileña afectada así como que aumenten los números de participación para las pruebas clínicas, específicamente ENROLL-HD.

Los recursos^

Asociación Brasileña de Huntington ^

La misión de esta Asociación es la de proporcionar apoyo directo a las familias afectadas, así como educar a los profesionales sobre las peculiaridades de la enfermedad que deben tomarse en consideración.

Lectura complementaria^

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 Neurology12.2 (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.

Colombia^

La visión de conjunto^

Colombia no refleja la prevalencia astronómica de la enfermedad como es el caso de su país vecino, Venezuela. Sin embargo, hay varias comunidades claves donde se han experimentando los efectos devastadores de la enfermedad: Magdalena, Juan de Acosta, Antioquía, Chocó, Medellín y Bogotá. Estas regiones difieren de muchas otras regiones en el mundo, debido a que los afectados a menudo viven en extrema pobreza, que no sólo afecta el bienestar del paciente, sino que a esto se suma la tensión financiera, física y emocionalmente, para los miembros de las familias y los cuidadores. Así, una de las principales problemáticas de las familias en estas regiones es la falta de los recursos básicos.

El significado cultural^

La escasez de los recursos básicos se torna en un gran problema para las personas que viven con la enfermedad en Colombia. Muchas de las familias viven en extrema pobreza y con malas condiciones de vida. Estas condiciones pueden afectar la calidad de vida, tales como la escasez de alimentos, de agua potable y la dificultad de acceso y salida de sus viviendas.

Factor-H es un organización que busca mejorar la calidad de vida de los pacientes enfocándose principalmente en regiones como Medellín, una gran cuidad urbana en la parte central de Colombia. Medellín se caracteriza por sus vastas redes de tugurios y viviendas de bajos ingresos. Debido a la presión financiera  sobre las familias de Huntington, la mayoría de aquellos que experimentan los síntomas motores a menudo terminan en barrios marginales. Estas condiciones habitacionales pueden ser muy peligrosas para aquellos con estas condiciones motores, por ejemplo, la extensa cantidad de callejones, niveles y escaleras que una persona necesita atravesar para hacer su propio camino.

Las familias con la EH en Colombia, así como en otros países similares en América del Sur, enfrentan diversos retos diferentes a los de las familias en otros países del mundo dada las condiciones de extrema pobreza. Si esto dificulta la capacidad para proporcionar la ayuda necesaria para una familia promedio, mucho menos en aquellas familias con varias personas que presentan síntomas de la EH. Por lo tanto, se hace imperativo destacar la importancia de los sistemas de soporte estructural que son necesarios para una adecuada atención médica en este país.

Los recursos^

Fundación Huntington de Colombia^

Esta fundación busca mejorar la calidad de vida para las familias con Huntington en Colombia. Este blog sirve como un recurso para la comunidad.

Asociación Colombianos por la Enfermedad de Huntington^

Esta asociación sirve como un recurso primario para las familias e individuos afectados para la enfermedad en Colombia.

Lectura complementaria^

1. Factor-H (factor-h.org)

Un proyecto social sin ánimo de lucro que persigue aumentar la conciencia sobre las personas que conviven con la enfermedad de Huntington o están afectadas por la misma, así como facilitar ayuda humanitaria y médica para disminuir el sufrimiento de las comunidades locales en América Latina.

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.

Una entrada de diario que relata la obra de Américo Negrette, una figure hisórica importante en la investgacion de la enfermedad Huntingon.

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

Muchas gracias a los editores por su ayuda: María Jesús Osorio Lafontaine y Erica Fernandez Zamora

Si tiene algunas recomendaciones, visita nuestra página de contacto aquí.

K. Powers 2014

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Companion Animals and Health

When most people consider therapies, they often think of prescriptions and side effects. However, animal companion therapy is proving to be an effective means of improving well-being among patients. Many of the benefits of animal companion therapy can extend to patients and family members living with Huntington’s disease. This article highlights the physical effects caused by companion animals, as well as opportunities for taking advantage of this type of therapy.

The Physical Effect of Companion Animals^

Stress can have harmful effects on the body’s ability to cope with various health issues. Research consistently shows that exercise and meditation can help manage stress levels. More recently, the scientific community has begun to collect growing evidence that animal companions might have the same effect on the health of patients.

The presence of an animal alone can affect our emotions. Animals are often able to focus people’s attention in a way that is calming or de-arousing (Cirulli et al., p. 342). Since animals, especially dogs, respond with affection and generally pro-social behaviors, they can potentially serve as an “emotional bridge” within therapeutic contexts.

The physical health effects of a companion pet can range from everyday benefits to life-saving changes. Within the first few months of acquiring a pet, patients tend to have lowered risk for cardiovascular disease, increased chances of surviving myocardial infarctions, decreased need of physician services during stressful life events and a reduction in everyday minor health problems.

Many HD patients cite lack of familial support as a major problem. Companion animals could help mediate this gap as icebreakers, bridging people with the outside world and jumpstarting communication and social exchanges that can promote feelings of social integration. Research in nonhuman mammals suggests that oxytocin, a signaling molecule in the brain, helps to increase one’s feeling of reward during social interactions while also increasing bonding between individuals. Oxytocin also assists in responding to social stress for humans. In fact, interacting with a dog caused a significant increase in levels of oxytocin within the human, improving his or her ability to forge new social bonds.

Creating an animal companion relationship^

In the study, Animal-assisted Interventions as Innovative Tools for Mental Health, researchers state that dogs are the ideal animal companions. Over thousands of years of domestication, dogs have been “selected for characteristics that enhance their sensitivity to a wide range of human communicative signals, both visual and acoustic” (Cirulli, p. 341). Dogs develop complex communication systems with humans and are highly interactive. Additionally, dogs provide opportunities for physical, recreational, and social activities. They are easily trained to constructively work in different settings, which explain their use as Seeing Eye and rescue dogs.

HD patients who live in nursing homes are often under great duress, as institutionalization can result in a decreased quality of life and stress due to separation from loved ones. Dog-mediated interventions could improve communication and reduce loneliness and depression.

Furthermore, animal companions could also help children of families experiencing traumatic life occurrences. Animal companions have been shown to influence social, emotional, and cognitive development in children. Parents often report that an animal helps teach children about life events. Children who grow up with pets have an enhanced sense of empathy and responsibility, social status within the peer group, and higher self-esteem and self-confidence.

While the positive aspects of animal companionship seem numerous, there are studies that raise questions about the extent of this impact. Visiting dog programs do not consistently “improve mood, cognitive abilities or social interactions” (Cirulli, p. 344). This might indicate that perhaps longer-term, matched interaction is needed between animal and human to see any effects. In fact, saliva spits revealed that there is a time-dependent increase in behavioral results such as improvement in mood or social bonding, as measured by mood changes and cortisol levels. (Cortisol is a hormone often associated with stress. Long term interaction with animals has shown to decrease levels of this hormone, improving well-being.)

Adding Pets to the Home^

In summary, adopting a companion animal into a Huntington’s disease family or an institution housing HD patients might have marked effects on the well being of various participants. However, there are certain aspects to take into account when making the decision to add a family member to the home. To find more information about the logistics of adopting a pet, visit http://www.aspca.org/adopt/adoption-tips.

If you are concerned with integrating a pet into family experiencing health difficulties, please contact Pet Partners, an organization dedicated to “improving lives through positive human-animal interaction.” Visit their website at http://www.petpartners.org/.

For Further Reading:^

1. Cirulli, Francesca, Marta Borgi, Alessandra Berry, Nadia Francia, and Enrico Alleva. “Animal-assisted Interventions as Innovative Tools for Mental Health.” N.p., n.d. Web. 14 Oct. 2013.
2. Bekoff, Marc, Ph.D. “Pets Are Good for Us: Where Science and Common Sense Meet.”Psychology Today. N.p., 23 July 2010. Web. 14 Oct. 2013
3. Allen, Karen M., Jim Blascovich, Joe Tomaka, and Robert M. Kelsey. “Presence of Human Friends and Pet Dogs as Moderators of Autonomic Responses to Stress in Women.” Journal of Personality and Social Psychology 61.4 (1991): 582-89. Print.
4. Health Benefits of Animals. Pet Partners, n.d. Web. 14 Oct. 2013. .

K. Powers
10/31/2013

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Media Files: Downloading vs. Direct Viewing

When dealing with media files (such as video or audio files) or large document files (such as pdfs or docs), there are basically 2 options available:

HOPES will usually make a recommendation on which option is best for a particular set of files. However, both options are usually available and the choice is really up to you and your preference!


1) Downloading files

Downloading files saves a copy of the file onto your computer so you can view it later on your own, even when you are away from the internet. In addition, for users using a slower dial-up (modem) internet connection, downloading large files may be especially useful, because a dialog box should always appear that gives information on the status of the download (% completed, estimated time left, etc.).

To download a particular file, right-click on the appropriate link. A menu will appear with several options. Select "Save Target As" (in Internet Explorer) or "Save Link Target As" (in Netscape Navigator or Mozilla). Note that while these images show the downloading process for Internet Explorer, similar menus and dialog boxes will appear in Navigator or Mozilla.

 

A "Save As" dialog box will then appear. Choose the location in which you would like to save your file. Make sure that it is a location that you will remember and that is easy to locate. Type in your own filename or reuse the one we've offered, and then click "Save".

The next dialog box appears while the file is being downloaded. The progress bar and % Completed keep you updated on the downloading process. Most browsers give you some indication of the estimated time left for downloading, taking into account the file size and the speed of your internet connection, although it should be noted that this estimation is rough.

When the file is finished downloading, the % Completed changes to the following dialog box. You can then view the file immediately by clicking "Open". Click "Close" to close the dialog box and continue surfing.


2) Viewing Files Directly

In order to view media files directly in one's browser, the appropriate plug-in must be installed. Luckily, most programs that are designed for internet media (such as Macromedia Flash, Adobe Reader, QuickTime, Windows Media, etc.) will automatically install a plug-in into your browser.  In these cases, simply left-clicking on a link will allow a user to view the file directly in his or her browser window. (In cases where the appropriate plug-in is not installed, left-clicking a particular link will simply download the file in the same fashion as a user right-clicking a link. See above for a description of the downloading process.)

If neither of these options allow you to view the files correctly, you probably do not have the appropriate program installed. Click here for more information.

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Media Files: Getting the Appropriate Plug-Ins

Some of the content at HOPES can only be viewed in certain applications separate from the usual web browser. Because most of these programs are designed specifically for web use, they are often referred to as "plug-ins" because they usually install a small program that can operate directly within one's browser if asked to do so.

If you are having trouble viewing certain content or files at HOPES, you likely do not have the appropriate plug-in installed. Also, be aware that plug-ins often go through revisions, so a plug-in that you thought was already installed may be out of date and require updating. The table below lists the all of the plug-ins that you may need to view HOPES content correctly.

Maker / Program File Type Get it here
Macromedia  Flash .swf (presentations, videos) Get Flash
Adobe  Reader .pdf (documents) Get Adobe Reader
Microsoft  Windows Media Player .wmv (videos) Get Windows Media Player
Apple  QuickTime .mov (videos) Get Quicktime
Microsoft  Word .doc (documents) Must be purchased**

All of these plug-ins are available for most current operating systems for both PCs and Macs. Nearly all are provided for free unless otherwise stated. Also, many of the plug-ins will open other file types besides the one(s) mentioned. Consult the appropriate websites for more information.

Feel free to contact HOPES with questions or comments. However, we emphasize that we are not computer technicians and can only provide some support for plug-in issues.


**
MS Word is not a free plug-in and cannot be purchased. However, nearly all current word processors have some translator that allows you to view .doc files.

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Last Modified: 8-01-04

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A Note on the Term "Cause"

Within this web site, the term "cause" is synonymous with "explanation". That is, a cause is an explanation, or a partial explanation, of why something (such as HD) occurs.

Diseases are complex processes, and individuals with HD have many diverse experiences with the disease. Just as there is no single "HD experience" (exact age of onset, severity of symptoms, etc.), there is no single cause of HD. Despite the fact that a single gene is the major factor determining whether or not an individual will get HD, other factors play a role in an individual's particular disease experience. Although genes predispose individuals to diseases, it is the combination of genes and environment (including the internal environment of an individual's body) that leads to the particular disease experience of an individual. Thus, there is not one cause of HD; instead, each person's experience with the disease has many explanations.

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Last Modified: 9-18-02

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Huntington Gene / HD Allele Clarification

In all people, the three-letter codon sequence C-A-G is repeated several times at one end of the Huntington gene. In people with HD, the Huntington gene has an increased number of CAG repeats. Thus, there are different versions or alleles of the Huntington gene, one for each different number of CAG repeats. For simplicity within this website, the term "non-HD allele" is used to refer to any allele of the Huntington gene containing a number of CAG repeats within the normal range (10-35). The term "HD allele" is used to refer to any allele of the Huntington gene with an extended number of CAG repeats.

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Last Modified: 9-13-02

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Correlation Without Causality

Correlation and causality are ways to describe the relationship between two events. If two events are correlated, then they usually occur together. For instance, people with 40 or more CAG repeats usually develop HD. People with 35 or fewer repeat numbers usually do not develop HD. These instances are examples of correlated events. Correlation also implies that two events change in a systematic way. For example, a negative correlation between two things implies that as one increases the other usually decreases. Hence, as the number of CAG repeats increases, the age of onset decreases. In contrast, a positive correlation between two things implies that as one increases the other increases as well. The age and height of children are positively correlated. Hence, older children are usually taller than younger children.

On the other hand, causality describes the cause and effect relationship between two events. The observation that two events are correlated is not enough to conclude that one causes the other to happen, nor is it enough to conclude that one doesn't cause the other to happen. In other words, correlation does not imply anything about causality. Correlation shows that two events are related, but it does not determine their cause and effect relationship.

For example, many psychological studies have shown that children who watch violent television shows are more likely to exhibit violent behavior. The general trend shows that a child's "level" of violence is positively correlated to the amount of violent television programs a child has seen. That is, the more violent TV shows a child watches, the more violent behavior he or she is likely to exhibit. This information does not prove that watching the television shows actually causes the children to become violent.

In this example the two events, viewing violent television and exhibiting violent behavior, are correlated. Hence, if a child is violent, it is very likely that he or she has also watched violent television. However, the violent television itself is not necessarily what caused the violent behavior. The child could exhibit violent behavior for any number of reasons. For example, it is possible that children who behave violently for other reasons are especially fond of watching violent television. The correlation between the two events is just not enough information to conclude anything about cause and effect. Thus, violent behavior is correlated to viewing violent television, but not necessarily caused by it.

In the case of HD, we know that the number of CAG repeats is negatively correlated to the age of onset. Usually, people with more repeats have an earlier age of onset. The important point to remember is that we do not know whether the additional CAG repeats are the actual cause of the earlier appearance of symptoms.

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About the HOPES Team

HOPES is a team of faculty and undergraduate students at Stanford University dedicated to making scientific information about Huntington's disease (HD) more readily accessible to the public. Our goal is to survey the rapidly growing scientific literature on HD and to present this information in a web source. We seek to provide information about causes, symptoms and treatment of HD that reflects current scientific understanding of HD. To date, HOPES resources have reached out to families in over 47 countries.

We emphasize that we are neither medical professionals, nor affiliations of the researchers and laboratories mentioned on our pages. The information we present is intended for educational purposes only and should not be construed as offering diagnoses or recommendations. We operate as a not-for-profit public service organization, and our funding is entirely from private sources.

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Meet the HOPES Team

Students

Stephanie

Stephanie Liou

Stephanie is a sophomore with a penchant for pretty things, paddling dragonboats, pushing pixels, the printed word, procrastination, and photography. She joined HOPES because she loves science, loves websites, loves people, and loves writing. Relatedly, her main life goals are to become the next Dr. Sanjay Gupta, and to spread the gospel of bubble tea around the world. Stephanie also enjoys alliteration, collecting Stuff that Looks Like Other Stuff, snacking when she ought to be sleeping, making lists, tweeting excessively, watching unintellectual television, changing her mind about what to major in, and speaking in third person.

Pooja

Pooja Bakhai

Pooja Bakhai is a senior majoring in human biology with a focus in global health and infectious disease, and minoring in music. She is the President of Global Health Volunteers at Stanford, plays clarinet with the Stanford Philharmonic Orchestra, and is looking forward to researching the viral etiology of Chronic Fatigue Syndrome. Huntington's disease is present in her father's side of the family, and this has inspired her to work for HOPES. As a future doctor, Pooja aims to eliminate health disparities and work with underserved populations in the United States and around the world.

Amy Amy Lanctot

Amy is a student researcher who is thrilled to be joining HOPES. A member of the Stanford class of 2013, she plans on majoring in Biology, with an emphasis on molecular and cellular biology. She joined HOPES because she is very interested in the biological workings of Huntington's Disease and its treatments. She also thinks that compiling all the research on the forefront of HD into one website written to be accessible to everyone is a brilliant idea. Her favorite part of HOPES is getting to meet so many remarkable people who share her goals. In her free time, Amy enjoys dancing, writing for the paper, reading, and watching bad British television.

Aimee Aimee Zhang

Aimee is having the time of her life during her third year at Stanford. She is a proud member of the class of 2012 and majoring in Human Biology. Aimee is a student researcher for HOPES. She decided to join HOPES because she likes the way HOPES serves the HD community and the potential number of people it reaches around the world. In her spare time, Aimee likes to read, run, write, play video games, and watch the sunset. Her long-time wish is to fly.

Yi Yi Lu

Yi is a student researcher and a proud member of the Stanford Class of 2011. He joined HOPES because of his desire to combine his interests in scientific outreach and education with his skills as a writer. His favorite part about HOPES so far has been the opportunity to meet so many engaging and inspiring people from the HD community. At Stanford, Yi is majoring in Anthropology with a minor in Modern Languages, although he really wishes that he could just stay in school forever and get a Bachelor's degree in everything. In his free time, he enjoys reading The New York Times, eating plain yogurt and thinking about how great it would be to run a marathon. He also hates beets. Boy does he hate beets.

Tiffany Tiffany Wang

Tiffany is a student researcher with HOPES. She is a Biology major hoping to go to medical school and member of the Stanford Class of 2010. Tiffany became interested in HOPES after working at an Alzheimer's Research lab, which prompted her to learn more about other neurodegenerative diseases. Since becoming a member of HOPES in 2008, Tiffany has found inspiration in working with the HD community and treasures every opportunity she has had to hear the stories of people who are affected by HD. As a frequent participant in science outreach activities, she sees HOPES as a way to pursue her academic interests while serving the HD community. When she is not working on pre-medical classes or HOPES, Tiffany enjoys dancing with her school jazz group Urban Styles, eating cereal and watching David Attenborough's Planet Earth documentaries.

Faren Faren Clum

Faren graduated in June 2009 with a BA in Human Biology but couldn't bear to leave the HOPES team behind. She stepped down from the position of Project Leader and is enjoying getting back to researching and writing articles. Her favorite job within HOPES is answering e-mail, so please send feedback and questions! In her free time, which she finds quite abundant post-college, Faren likes to cook, eat, and teach dance. Oh and study for the MCAT…

Academic Advisors

  • Morgan Thompson, Ph.D. – Editing Consultant
  • Danielle Simmons, Ph.D. – Editing Consultant
  • William Durham, Ph.D. – Faculty advisor, Bing Professor in Human Biology, Department of Anthropological Sciences

Past Team Members

  • Danny Neumann, Web Developer, B.S. in Geophysics
  • Andrew Pipathsouk – Researcher, B.S. in Mechanical Engineering
  • Chelsea Garnett – Researcher, B.A. in Human Biology
  • Jean Ansolabehere – Researcher, Senior in Human Biology and English
  • Natalie Justicz – Graphic Artist, Senior in Human Biology
  • Adam Hepworth – Project Leader & Researcher, Senior in Human Biology and Philosophy
  • Mesa Schumacher – Graphic Artist, B.A. in Anthropological Science
  • Amy Frohnmayer – Researcher, Psychology
  • Eric Whitney – Researcher, Human Biology
  • Jonathan Dyal – Project Leader & Researcher, B.A. in Human Biology
  • Justine Seidenfeld – Researcher, B.A. in Human Biology
  • Matt Woloszyn – Researcher, English
  • Alicia Follmar – Researcher, Human Biology
  • Aliyya Haque – Researcher, B.A. in Human Biology
  • Christina Chen – Project Leader & Researcher, B.A. in Human Biology, '07
  • Devon McGee – Project Leader & Researcher, B.A. in Human Biology, '06
  • Stanislav Jourin – Art Director, M.S. in Digital Imaging & Design at NYU, '04
  • Kim Taub – Project leader & Researcher, B.A. in Human Biology, '05
  • Taylor Altman – Researcher, B.A. in Human Biology
  • Jia Hou – Researcher, B.A. in Human Biology
  • Agnieszka Milczarek – Researcher, B.S. in Biology and B.A. in English
  • Leon Hsu – Researcher, B.A. in Human Biology, '05
  • Clare Tobin – Researcher, B.A. in Human Biology
  • Michael Morici – Researcher, B.S. in Biology
  • Tonkid Chantrasmi – Web developer, Graduate Student in Mechanical Engineering
  • Shawn Fu – Web developer & graphic artist, B.S. in Biology, '03
  • Amy Hsu – Project leader, B.S. in Mathematical and Computational Science, '02
  • Matt Stenerson – Project leader & researcher, B.A. in Human Biology, '03
  • Cathy Barnard – Researcher, B.A. in Human Biology, '04
  • Kaizad Cama – Researcher, B.A. in Human Biology, '03
  • Peter Chang – Researcher & web developer, B.S. in Biology '03
  • Darwin Chen – Researcher, B.A. in Human Biology, '02
  • Tucker Cunningham – Web developer & graphic artist, Senior in Computer Science
  • Jaclyn Czaja – Researcher, B.A. in Human Biology, '02
  • Karen Hammond – Researcher, B.A. in Psychology at Carleton College, '03
  • Kelvin Ho – Web developer & graphic artist, B.S. in Computer Science, '04
  • Tracy Ho – Researcher, Senior in Human Biology
  • Vinita Kailasanath – Researcher, B.A. in Human Biology and American Studies, '03
  • Shashikant Khandelwal – Web Developer, Graduate Student in Computer Science
  • Ruth Lo – Researcher, B.A. in Human Biology, '04
  • Jean-Gabriel Morard – Web developer, Graduate Student in Computer Science
  • Melissa Schapiro – Researcher, B.S. in Biology & Psychology, '04
  • Gina Schiel – Researcher, Senior in Human Biology
  • Elyn Tan – Researcher, B.A. in Human Biology, '03
  • Joakim Vinberg – Web developer and graphic artist, B.S. in Biotechnology, '04
  • Belinda Fu, M.D. – Faculty advisor, Lecturer, Department of Human Biology
  • Joanna Mountain, Ph.D. – Faculty advisor, Assistant Professor, Department of Anthropological Sciences and Department of Genetics
  • Ronald Barrett, R.N., Ph.D. – Faculty advisor, Assistant Professor in Medical Anthropology
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New Scientist reports on gene therapy research

Gene therapy may switch off Huntington's

By Bob Holmes, Banff

Using gene therapy to switch off genes instead of adding new ones could slow down or prevent the fatal brain disorder Huntington's disease. The method, which exploits a mechanism called RNA interference, might also help treat a wide range of other inherited diseases.

Fig: Silencing Faults

"When I first heard of this work, it just took my breath away," says Nancy Wexler of Columbia University Medical School, who is president of the Hereditary Disease Foundation in New York. Though the gene-silencing technique has yet to be tried in people, she says it is the most promising potential treatment so far for Huntington's.

It involves a natural defence mechanism against viruses, in which short pieces of double-stranded RNA (short interfering RNAs, or siRNAs) trigger the degradation of any other RNA in the cell with a matching sequence. If an siRNA is chosen to match the RNA copied from a particular gene, it will stop production of the protein the gene codes for (see graphic).

Huntington's is caused by mutations in the huntingtin gene. The resulting defective protein forms large clumps that gradually kill off part of the brain. Studies in mice have shown that reducing production of the defective protein can slow down the disease, and Beverly Davidson at the University of Iowa thinks the same could be true in people.

"If you reduce levels of the toxic protein even modestly, we believe you'll have a significant impact," she says. Late in 2002, her team showed that it is possible to reduce the amount of a similar protein by up to 90 per cent, by adding DNA that codes for an siRNA to rodent cells engineered to produce the protein.

Disease-causing genes

The team was the first to use gene therapy to deliver such a payload, and they have now done the same with the huntingtin protein itself. Completely silencing the gene in people with the disease is not an option because brain cells may not survive without the protein. But we have two copies of most genes, and usually only one is defective in people with Huntington's.

Working on a similar disease using human cells, Davidson and her colleague Henry Paulson have now shown you can make an siRNA that recognises and silences only the mutant gene.

They could not target the disease-causing mutation itself because, as in Huntington's, the mutation merely makes a long stretch of repeats even longer, without actually altering any particular short sequence. But they did find another difference, a change in a single DNA letter that appears in 70 per cent of defective genes.

Adding an siRNA that matches this telltale sequence reduced expression of the defective protein by over 80 per cent, while production of the normal protein was hardly affected, Davidson told a gene therapy conference in Banff, Canada, last week. The hunt is now on for similar mutations in the huntingtin gene itself. One promising candidate has been discovered in about 40 per cent of disease-causing genes.

The same approach could probably be used for many other genetic disorders. Even if both copies of a gene are faulty, a healthy copy of the gene could be added alongside an siRNA that turns off both defective copies.

Related articles

RNAi protects living animals against disease

Interference technique is clean cancer killer

Clue to treatments for fatal Huntington's

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