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Article Date: 20 May 2008 - 3:00 PDT
Scientists have developed the first genetically altered monkey model that replicates some symptoms observed in patients with Huntington's disease, according to a new study funded by the National Institutes of Health. Researchers are now able to better understand this complex, devastating and incurable genetic disorder affecting the brain. This advance, reported in the online publication edition of Nature, could lead to major breakthroughs in the effort to develop new treatments for a range of neurological diseases.
Huntington's is an inherited disease caused by a defective gene that triggers certain nerve cells in the brain to die. Symptoms may include uncontrolled movements, mood swings, cognitive decline, balance problems, and eventually losing the ability to walk, talk or swallow. It affects five to 10 people in every 100,000. There is no known treatment to halt progression of the disease, only medications to relieve symptoms. Death typically occurs 15 to 20 years after onset.
This study marks the first time that researchers have developed a rhesus macaque model of a specific human disease using transgenic technologies, a marked improvement over mouse models. Transgenic animals are created using a recombinant DNA method to modify a genome.
"This research allows scientists to advance beyond mouse models which do not replicate all of the changes in the brain and behavior that humans with Huntington's disease experience," said John D. Harding, Ph.D., director of primate resources at the NIH's National Center for Research Resources (NCRR), which funded the study. "Primate models better mirror human diseases and are a critical link between research with small laboratory animals and studies involving humans."
To unravel the genetic components of this disease, NIH-supported researchers Anthony W.S. Chan, D.V.M., Ph.D.; Xiao-Jiang Li, M.D., Ph.D.; and Shi-Hua Li, M.D., Ph.D., collaborated with their colleagues at the Yerkes National Primate Research Center and other components of Emory University in Atlanta. The research was supported by the NCRR and the National Institute of Neurological Disorders and Stroke (NINDS) at NIH.
The Emory research team developed this transgenic monkey model by introducing altered forms of the Huntington gene into monkey eggs using a viral vector. The eggs were fertilized and the resulting embryos were introduced into surrogate mothers, resulting in five live births. The investigators are now studying the onset of the disease and its behavioral and cognitive effects, with the goal of using the monkey model to better understand disease mechanisms and to design therapies.
"Genetic advances make it easy to identify who has inherited the disease gene," said Walter Koroshetz, M.D., deputy director of the NINDS. "Now, with a primate model of Huntington's disease, we are one large step closer to finding better treatments for people with the disease as well as those destined to develop it."
The Yerkes primate center where this advance was made is one of eight supported by NCRR. The centers provide leadership, training and resources to foster scientific discovery and compassionate, quality animal care. Last year, the eight centers located around the country supported more than 2,000 researchers studying a wide range of diseases using non human primate models.
"Yerkes primate center is an ideal place to carry out this work because of its expertise in nonhuman primate transgenesis, non-invasive neural imaging, and experience with behavior assessment," said Dr. Harding.
Article adapted by Medical News Today from original press release.
Click here for more information about Huntington's disease.
NCRR, a part of NIH, provides laboratory scientists and clinical researchers with the resources and training they need to understand, detect, treat and prevent a wide range of diseases. NCRR supports all aspects of translational and clinical research, connecting researchers, patients, and communities across the nation. For more information, visit http://www.ncrr.nih.gov/.
The NINDS (http://www.ninds.nih.gov/) is the nation's primary supporter of biomedical research on the brain and nervous system.
The NIH - The Nation's Medical Research Agency - includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov/.
Source: Joyce McDonald
NIH/National Center for Research Resources
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The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.
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Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:
1) Gene Therapy for Friedreich's Ataxia research project:
The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.
2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.
The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.