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Biomarker Roundup No. 2

October 2, 2014

Finger Blood Test for Malaria

Malaria diagnostic requires less blood and expertise
The parasitic disease malaria continues to be a major public health concern in tropical and subtropical countries. Currently, when healthcare providers diagnose malaria, they typically collect blood samples intravenously. The samples are stained to allow technicians to count the number of parasites present, and thus determine how severe the individual disease case is. However, this technique is prone to human error.

In an effort to create a simpler and more effective diagnostic for malaria, a team of scientists from the Singapore-MIT Alliance for Research and Technology found a way to use magnetic resonance relaxometry to measure the levels of hemozoin – a weakly paramagnetic substance and waste product of parasitic metabolism of hemoglobin – in blood samples. The diagnostic prototype for the device uses a 0.5 tesla magnet and is small enough to fit on a table or lab bench. It requires only 10 microliters of blood from a finger prick, thus making it less invasive than current, standard malaria diagnostics.

“There is real potential to make this into a field-deployable system, especially since you don’t need any kind of labels or dye. It’s based on a naturally occurring biomarker that does not require any biochemical processing of samples,” said senior researcher Jongyoon Han, whose study is published in the journal Nature Medicine.

The scientists are currently establishing a company to sell this device commercially.

Researchers find gene linked to diabetes
Public health experts understand that Type 2 diabetes may be a more prevalent problem for certain ethnic populations than for others. This knowledge is important because it can help health workers target their population management strategies surrounding Type 2 diabetes, a disease that raises the risk of cardiovascular disease and limb amputations.

Mexicans are among the most at-risk groups for Type 2 diabetes. To understand this risk better, a team of researchers from the Broad Institute, the National Institute of Nutrition and the Institute of Biomedical Research of the UNAM sequenced the DNA of more than 8,000 people of Mexican descent. Study participants either lived in Mexico City or Los Angeles, California.

Results showed that 30 percent of mestizo Mexicans and up to 50 percent of indigenous Mexicans carried a mutated version of the SLC16A11 gene. This gene was strongly linked to maturity-onset diabetes of the young. This information is important because it would allow health care providers to learn more about specific diabetes cases that are presented before them in the clinic, and thus make better treatment decisions. Instead of analyzing patients’ genes for various mutations, clinicians can focus solely on mutations in SLC16A11.

Study unveils new genetic mutations tied to prostate cancer
Research led by scientists from the Moffitt Cancer Center uncovered 23 new regions of the human genome that are linked to the risk of prostate cancer, as published in the journal Nature Genetics. This brings the number of genetic variants tied to the malignant disease to 100.

“This study gives us a more complete list of genetic factors that increase a man’s prostate cancer risk,” researcher Jong Park, Ph.D., said in a statement. “The goal is to now take this information and use it to develop a reliable test that can be used in addition to current screening methods.”

These results were based on the analysis of the genes of nearly 90,000 men, including those of European, Japanese, Latino and African descent.

Prostate cancer is the most commonly diagnosed non-skin malignancy found in men in the U.S., affecting about 1 in 6 males during their lifetime. The strongest risk factor is a family history of the disease.

Genetic tests can identify causes for individual cases of lupus
A team of scientists from Australian National University discovered that DNA sequencing is an effective way to identify the genetic causes of lupus, an autoimmune disease that affects 1 in 700 individuals in Australia. The study, published in the journal Arthritis and Rheumatology, centered on a 10-year-old-girl who suffered a stroke at the age of 4 as a result of lupus.

DNA sequencing tests revealed the patient had a mutated TREX1 gene, which led to abnormal production of interferon-alpha. Fortunately, there are clinical trials that aim to temper this process in adults. The patient herself, though, still needs to undergo steroid and immunosuppres​sive therapy.

In the meantime, the study authors point to their work as indicative of the potential of personalized medicine.

“We are optimistic that this represents proof of principle for a new approach to diagnosis and treatment of a range of complex immunological disease,” Matthew Cook, co-director of the Centre for Personalized Immunology at ANU, said in a statement.

This study opens the door for researchers to hunt for more gene mutations tied to lupus. Ultimately, though, it helps demonstrate the value of personalized medicine, in which treatment decisions are determined in part by patients’ genes.

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