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Vol. LXIV, No. 20
September 28, 2012
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Digest

NIH Researchers Restore Children’s Immune Systems

Researchers have demonstrated that a refined gene therapy approach safely restores the immune systems of some children with severe combined immunodeficiency. This photo of a nurse and child inside a laminar airflow system, circa 1985, shows the kind of protection SCID patients used to require.
Researchers have demonstrated that a refined gene therapy approach safely restores the immune systems of some children with severe combined immunodeficiency. This photo of a nurse and child inside a laminar airflow system, circa 1985, shows the kind of protection SCID patients used to require.

Researchers have demonstrated that a refined gene therapy approach safely restores the immune systems of some children with severe combined immunodeficiency (SCID). The rare condition blocks the normal development of a newborn’s immune system, leaving the child susceptible to every passing microbe. Children with SCID experience chronic infections, which usually triggers the diagnosis. Their lifespan is 2 years if doctors cannot restore their immunity.

The findings from facilities including NIH, UCLA and Children’s Hospital Los Angeles were reported in the Sept. 11 advance online issue of the journal Blood.

In the 11-year study, the researchers tested a combination of techniques for gene therapy, arriving at one that produced normal levels of immune function for three patients.

“Doctors who treat patients with SCID have had limited treatment options for too long,” said Dr. Dan Kastner, scientific director of the National Human Genome Research Institute. “The research teams and the patients who have participated in the studies have together achieved an impressive advance toward a cure that is welcome news for both the scientific and patient communities.”

Gene therapy is an experimental method for treating patients with genetic diseases. It is intended to integrate functioning genes among those naturally existing in the cells of the body to make up for faulty genes. Researchers in the current study tested a set of methods to improve outcomes for children with a particular form of SCID.

While rare, SCID became widely known because of the remarkable boy-in-the-bubble story of the 1970s.

Potential Therapeutic Targets Found for Lung Squamous Cell Carcinoma

Researchers have identified potential therapeutic targets in lung squamous cell carcinoma, the second most common form of lung cancer. The Cancer Genome Atlas (TCGA) Research Network study that appeared online Sept. 9 and in print Sept. 27 in the journal Nature comprehensively characterized the lung squamous cell carcinoma genome. The study found a large number and variety of DNA alterations, many of which seem to be driving forces behind pathways that are important to the initiation and progression of lung cancer.

“With these findings, TCGA researchers have set the stage for the development, testing and implementation of advanced diagnostics and therapeutics for lung squamous cell carcinoma,” said NIH director Dr. Francis Collins.

Researchers have made important strides in understanding and developing precision medicine treatments for adenocarcinomas, which are the most common type of lung cancer. But these treatments have been largely ineffective in treating lung squamous cell carcinoma. This carcinoma frequently develops in the large airways in the center of the lungs, while adenocarcinomas often arise at the edges of the lungs. Lung adenocarcinomas sometimes affect non-smokers, while lung squamous cell carcinomas arise almost exclusively in smokers.

“This report provides an unprecedented view of the spectrum and high rate of genomic mutations that are found in lung squamous cell carcinoma,” said NHGRI director Dr. Eric Green. “We hope this report will spur basic research to better understand the genesis of the disease, and in clinical research as these new findings are factored into potential treatment approaches.”

Study Shows Feasibility of MRI to Guide Heart Catheter Procedures

Heart catheter procedures guided by magnetic resonance imaging (MRI) are as safe as X-ray-guided procedures and take no more time, according to a pilot studyconducted at NIH. The results of the study indicate that real-time MRI-guided catheterization could be a radiation-free alternative to certain X-ray-guided procedures.

A report of the study, which was conducted by researchers at NHLBI, was published online in the European Heart Journal.

“This could be the first chapter of a big story,” said Dr. Robert Balaban, NHLBI scientific director. “It provides evidence that clinical heart catheter procedures are possible without using radiation, which could be especially valuable in areas such as pediatrics.”


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