Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Unique Huntington's study moves forward

10.08.2006
Those at risk who decline gene test provide basis for look at early symptoms

Doctors have completed the first step of a unique medical research study, evaluating 1,001 individuals at risk of developing Huntington's disease who do not know – nor do they want to know – whether they carry the genetic defect that causes the condition.

An international team led by neurologist Ira Shoulson, M.D., of the University of Rochester Medical Center is trying to identify the earliest signs of the onset of the disease. The information will help clinicians design better studies of new drugs aimed at alleviating or postponing illness. It also helps researchers understand how patients evaluate potentially life-changing knowledge now available to patients through means such as genetic testing.

Shoulson and colleagues from the Huntington Study Group reported their progress on the study known as PHAROS, or Prospective Huntington At Risk Observational Study, in the July issue of the Archives of Neurology.

While the gene that causes the disease is known and can be identified through a blood test, fewer than one in 10 adults at risk for developing the disease have chosen to be tested. People at risk but who have not taken the test have a 50/50 chance of developing the disease. This at-risk group offers physicians a unique opportunity to witness the earliest signs of the disease, before anyone knows whether a person actually has the gene for Huntington's or not.

In the PHAROS study, one of the largest Huntington's studies ever undertaken, 1,001 healthy people between the ages of 26 to 55 who had at least one parent with the disease have stepped forward to participate. Patients, doctors and nurses from 43 hospitals and medical centers around North America, including Rochester, are taking part.

At enrollment in PHAROS, participants provide a blood sample to analyze whether or not they harbor the Huntington's gene, though neither they, the researchers, nor their physicians will ever be told the results of the individual analyses. Participants are being evaluated once every nine months for anywhere from four to 10 years.

"The at-risk individuals who are participating in PHAROS do not know if they have inherited the gene responsible for Huntington's disease or if they will ever even develop this serious disease," said Shoulson, who chairs the Huntington Study Group. "The enthusiasm and commitment of these individuals to participate in this type of long-term research is gratifying. We expect that the knowledge from this observational study will be put to good use when we begin clinical trials to delay the onset of Huntington's disease."

Huntington's is an inherited disorder that affects about 30,000 people in North America; another 150,000 people or so may have the gene that causes the disease. The defective gene, a sort of genetic stutter, leads to the destruction of brain cells, causing involuntary movements, cognitive problems, and often psychological problems like depression and paranoia. The disease usually strikes in young- to mid-adulthood, in a patient's 30s or 40s.

The study is relevant for many physicians and patients who have increasing access to information about the specific genetic causes of many diseases, even for conditions like Huntington's for which there is no cure or approved treatment. The issues these patients face portend concerns that nearly everyone will confront eventually, as researchers ferret out the genes that predispose some people to heart trouble, high blood pressure, Alzheimer's and Parkinson's diseases, stroke, and other diseases. People at risk for Huntington's disease today present a unique opportunity for researchers to examine the psychosocial, ethical, and practical issues faced by people who have chosen not to know whether they will develop a serious disease or not.

"The experience from PHAROS also informs us how persons at high risk to develop a disabling genetic disease deal with lingering uncertainties about their future health and complex choices about their participation in research," said Shoulson, part of a Rochester team that treats Huntington's patients from more than 200 families.

The group that has signed up is remarkably healthy, with more than 99 out of 100 participants either showing no detectable signs of Huntington's or a symptom not necessarily tied to the disease. Nearly all participants are employed, with the majority in professional or managerial jobs; overall the group of participants is highly educated, with nearly half having at least four years of education after high school. For reasons that researchers don't understand, more than twice as many women as men, 689 compared to 312, have signed up for the study.

Tom Rickey | EurekAlert!
Further information:
http://www.urmc.rochester.edu

More articles from Studies and Analyses:

nachricht Real-time feedback helps save energy and water
08.02.2017 | Otto-Friedrich-Universität Bamberg

nachricht The Great Unknown: Risk-Taking Behavior in Adolescents
19.01.2017 | Max-Planck-Institut für Bildungsforschung

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

From rocks in Colorado, evidence of a 'chaotic solar system'

23.02.2017 | Physics and Astronomy

'Quartz' crystals at the Earth's core power its magnetic field

23.02.2017 | Earth Sciences

Antimicrobial substances identified in Komodo dragon blood

23.02.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>