Researchers have identified a genetic risk factor associated with ischemic stroke, a type of neurological disorder caused by the death of brain tissue due to inadequate blood and oxygen supply. Ischemic strokes often occur after a blood clot prevents blood from reaching the brain.

A study published in the April 16 issue of the New England Journal of Medicine reports that two genetic variants on chromosome 12 are strongly linked to incidence of stroke. These variants are in close proximity to two genes that are compromised during stroke. One, NINJ2, is linked to brain injury repair and the other, WNK1, is tied to blood pressure and hypertension.

The study showed that people with the genetic variation are 30 percent more likely to suffer from stroke than populations who do not exhibit the variation. These genetic symbols were found in roughly 20 percent of the studied Caucasian population and in about 10 percent of the studied African-American population.

The research team compared the incidence of these genetic factors in 1,544 people who had experienced stroke and 18,058 who had not. Populations studied were from the Netherlands and North America.

The report notes that these genetic codes are not likely the cause of stroke, but rather are somehow linked with the actual cause.

Visit the Healia Stroke Community and Support Group for more information and to share experiences with stroke.

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Although stem cells may one day prove to be effective treatments against many of the most devastating medical conditions and their use in medicine may become commonplace, a new study reports that several “rogue” stem cell clinics are already making such premature claims about stem cell treatments on their Web sites. These clinics are portraying the therapies they offer as safe, effective, and ready for routine use.

In a report published in the December issue of Cell: Stem Cell, researchers caution that patients should be wary of stem cell clinics that make confident claims about their services without firm medical evidence to back it up, because the existing published research does not support that "overoptimistic" picture.

At least 19 different Web sites offer stem cell therapies at clinics in countries such as China, Mexico, and Russia where there are fewer restrictions on the use of stem cells than in the United States. The Web sites tout treatments for conditions including multiple sclerosis, Parkinson's and Alzheimer's diseases, spinal cord injury, blindness, stroke, and heart attack.

In recent years, desperate patients with such conditions have visited overseas clinics believing them to be their last hope. While a review of published medical studies finds some encouraging evidence for the use of stem cells to treat such conditions, there is not yet any clear evidence of benefit from such treatment, and many studies cite the risk of serious side effects. In addition, the study notes the average cost of a course of such treatment was $21,500, excluding travel and accommodation for patients and care givers.

In the same issue of the journal, a report from the International Society for Stem Cell Research (ISSCR) describes new research guidelines that condemn the marketing of unproven therapies. The society has posted a patient handbook on its Web site to help people who are considering stem cell therapy.

The guidelines say that in limited cases, doctors may be justified in trying an experimental treatment outside of a formal study for small numbers of seriously ill patients. The guidelines recommend standards for that situation, such as approval from a group of experts with no vested interest in the treatment and a commitment by those offering it to proceed to a formal study. Read the complete guidelines in the patient handbook on the ISSCR website. 

If you or someone you know is facing a serious condition that might benefit from stem cells, keep in mind that there are controlled studies being conducted in the Untied States to examine the use of stem cells to treat several diseases. While these studies are usually small, if you meet the criteria for such a study you may be able to receive stem cell treatment for free. Such studies will ultimately help researchers determine if the grand potential of stem cells is real. To find a clinical trial involving stem cells, search Healia Clinical Trials Search for stem cells, or search Healia Clinical Trials Search for a particular disease (e.g. Parkinson’s disease).

 

_{Photo: Daino_16, stock.xchng, sxu license}

Doctors in Germany say that an HIV-positive patient given a bone marrow transplant appears to have been cured of his HIV infection. The patient, a 42-year-old American man living in Germany, received the transplant to treat leukemia and nearly two years later shows no sign of either HIV infection or cancer. The doctors stressed that this may be an unusual case and further investigation is needed to confirm the results.

While bone marrow transplants have been explored as a way to treat HIV infections in the past, this time the researchers used a new twist. They sought out a bone marrow donor who had a rare genetic mutation that seems to make people resistant to HIV infection. About one in 1000 Europeans and Americans inherits the Delta 32 mutation from both parents, which turns off a protein called CCR5 that the HIV virus needs to infect cells.

A bone marrow transplant involves administering high doses of radiation to kill off the patient’s own infected bone marrow cells and disable the immune system, then replacing it with donor bone marrow. The treatment is very risky and can be fatal as often as 20 to 30 percent of the time. As a result, bone marrow transplants are unlikely to become first-line treatments for HIV infections. However, the finding that it may be possible to induce HIV resistance by mutating CCR5 opens the door for similar studies using techniques such as gene therapy.

To find out more about HIV infection, visit the Healia Health Community for HIV/AIDS.

 

_{Photo: C. Goldsmith, Wikipedia, Creative Commons}

The month of July is National Hemocromatosis Awareness and Screening Month. Hemochromatosis is an inherited disorder which causes people to absorb extra iron from their diet. Because the body has no efficient way to excrete iron, excess iron builds up in the liver, heart, pancreas, pituitary, and joints.

According to the Iron Disorders Institute, an advocacy organization for people with iron disorders, body organs with excessive iron eventually fail to function and disease or premature death occurs. Excess iron levels can be reduced by removing blood through blood donations and chelation therapy using special medicines.

Chronic fatigue and joint pain are among the first and most common symptoms reported by people with hemochromatosis. Subsequent symptoms and findings may include abdominal pain, irregular heart rhythm, loss of period loss of interest in sex, hair loss, and skin color changes.

Do you have a question about hemochromatosis? Make sure to search healia.com for more information.

hemochromatosis iron disorder National Hemocromatosis Awareness and Screening Month

People who are more susceptible to genetic diseases because of family history are often given the option to have a genetic test, and the accompanying decision can be extremely difficult. Genetic tests are typically conducted using blood or other tissue to find genetic abnormalities. According to the National Institutes of Health (NIH), there are about 900 genetic tests available that may be indicated for various reasons:

• Finding genetic abnormalities in the fetus
• Finding out if individuals may carry an abnormal gene that may be passed to their children
• Screening embryos for genetic abnormalities
• Testing for genetic abnormalities before they cause symptoms
• Confirming a diagnosis in a person who has signs and symptoms of disease

There are pros and cons to genetic testing. Test results can have a big impact on a person’s emotions, social relationships, finances, and health choices. A negative test result may cause a feeling of relief and elimination of the need for special preventive checkups, tests, or surgeries. A positive test result can bring relief from uncertainty and allow people to make informed decisions about their future.

There is much concern about genetic discrimination. Examples of genetic discrimination include insurance companies and employers treating people differently because they have a gene alteration that increases their risk of a disease. The Health Insurance Portability and Accountability Act (HIPAA) of 1996 provides some protection for people who have employer-based health insurance.

The Act prohibits group health plans from using genetic information as a basis for denying coverage if a person does not currently have a disease. However, the Act does not prohibit employers from refusing to offer health coverage as part of their benefits, or prevent insurance companies from requesting genetic information (National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice).

Genetic testing requires a blood, hair, skin, or other tissue sample depending on what type of abnormality your physician is looking for. The sample is then sent to a specialized lab for analysis. It is important to discuss your situation with family, friends, genetic counselor, and physician before making a final decision. To search for more information regarding genetic testing, visit healia.com.

genetic test genetic disease genes

Yesterday, the New England Journal of Medicine published the findings of the The International Multiple Sclerosis Genetics Consortium that may result in new treatments for people with multiple sclerosis (MS). About 2.5 million people worldwide have MS, a disabling, progressive neurological disease that may ultimately result in paralysis.

In this breakthrough study, researchers linked three genes to MS and implicated that a dozen more may be involved as well. Amazingly, this is apparently the first major genetic discovery related to MS in about 30 years.

Interestingly, this dramatic research was made possible due to several major research teams worldwide that pooled their data for analysis and publication. This type of collaborative and coordinated research and analysis will likely be the standard for major biomedical research going forward. The Internet no doubt played a role in facilitating this collaborative research and will continue to do so to an even greater extent in the future.

multiple sclerosis MS IMSGC genes genetic research