Recovery Act Stories - Featured Research

Read about research supported by NINDS through the Recovery Act

New gene mutations linked to ALS and nerve cell growth dysfunction

John Landers, Ph.D.– University of Massachusetts Medical School
Researchers have linked newly discovered gene mutations to some cases of the progressive fatal neurological disease amyotrophic lateral sclerosis – ALS, also known as Lou Gehrig’s disease. Shedding light on how ALS destroys the cells and leads to paralysis, the researchers found that mutations in this gene affect the structure and growth of nerve cells. More »

Patient-derived stem cells could improve drug research for Parkinson's

Ole Isacson, M.D., Ph.D - McLean Hospital and Harvard Medical School
Researchers have taken a step toward better drug therapies for Parkinson's disease and Huntington's disease by investigating signs of distress and vulnerability in patient-derived cells. Cells derived from patients with Parkinson's had different responses to drug treatments depending on the type of Parkinson's each patient had. These are the latest advances from the NINDS iPS cell consortia. More »

Paralyzed individuals use thought-controlled robotic arm to reach and grasp

Leigh Hochberg, M.D., Ph.D.- Brown University and Massachusetts General Hospital
A trial funded in part by NIH is evaluating the BrainGate neural interface system, an investigational device intended to put robotics and other assistive technology under the brain's control. Two trial participants – both paralyzed by stroke years ago – learned to use the BrainGate to make complex reach-and-grasp movements with a robotic arm, simply by imagining they were using their own arms. More »

NIH-funded research points to potential therapy for tumor-associated epilepsy

Harald Sontheimer, Ph.D.- University of Alabama Birmingham
Brain tumors called gliomas are often associated with seizures, but why the seizures occur and how to effectively treat them have been elusive. New research shows that gliomas release excess levels of the brain chemical glutamate, overstimulating neurons and triggering seizures. Sulfasalazine, a drug on the market for treating certain inflammatory disorders, reduced seizures in mice with gliomas. More »

New model of ALS is based on human cells from autopsied tissue

Brian Kaspar, Ph.D.- Nationwide Children's Research Institute
By isolating cells from patients' spinal tissue within a few days after death, researchers funded by the National Institutes of Health have developed a new model of the paralyzing disease amyotrophic lateral sclerosis (ALS). They found that during the disease, cells called astrocytes become toxic to nerve cells – a result previously found in animal models but not in humans. The new model could be used to investigate many more questions about ALS, also known as Lou Gehrig’s disease. More »

In Autism, Are Brain Cells Strapped for Energy?

Douglas Wallace, Ph.D.- Children's Hospital of Philadelphia
Douglas Wallace, Ph.D., director of the Center of Mitochondrial and Epigenomic Medicine at the Children's Hospital of Philadelphia, theorizes that a significant number of autism spectrum disorders are linked to genes required by mitochondria. He is investigating that theory with a grant from the National Institute of Neurological Disorders and Stroke (NINDS), funded through the American Recovery and Reinvestment Act (ARRA). More »

Brain Mapping Goes Viral

Lynn Enquist, Ph.D.- Princeton University
Lynn Enquist, Ph.D., a molecular biologist at Princeton University in New Jersey, aims to visually dissect this jumble of connections by combining two existing brain mapping techniques. One technique, called Brainbow, involves marking individual brain cells with distinct, randomly generated colors. The other technique involves tracing the path of a virus as it hops from one cell to other connected cells. More »

Gene Scan Finds Link across Array of Childhood Brain Disorders

Murat Gunel, M.D.- Yale University
Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing – a new gene scanning technology that cuts the cost and time of searching for rare mutations. More»

NINDS Awards Recovery Act Funds to Support Neuroimaging Study of Stroke Patients

Greg Albers, M.D.- Stanford University
Following an acute ischemic stroke - the kind caused by a blood clot - treatment to restore blood flow to the brain must be started as soon as possible. Every passing minute without treatment increases the likelihood of irreversible brain injury. The current time window for the only drug approved by the Food and Drug Administration (FDA) to treat stroke is 3 hours from symptom onset. A new study will explore whether neuroimaging can be used to identify stroke patients who have salvageable brain tissue and are likely to benefit from therapies that open up blocked arteries up to 8 hours after the onset of stroke symptoms. More»

Researchers Seek Better Targeting, Better Understanding of Deep Brain Stimulation for Parkinson's Disease

Joel Perlmutter, M.D. - Washington University
When medications fail, many individuals with Parkinson's disease turn to deep brain stimulation (DBS). Yet while DBS often proves effective in relieving the movement problems associated with Parkinson's, it can have negative effects on cognition. The reasons for these effects - good and bad - are poorly understood. Joel Perlmutter, M.D., a professor of neurology and radiology at Washington University in St. Louis, theorizes that the effectiveness of DBS could be improved and its side effects reduced by targeting the stimulation to one key site in the brain and avoiding a nearby site only a few millimeters away. More»

Researchers Probe Chromosomal Abnormalities and their Role in Brain Disorders

James Lupski, M.D., Ph.D. - Baylor College of Medicine
In a biology classroom somewhere, students are looking at slides of dividing cells, learning about how the cells' chromosomes must be neatly lined up and sorted so that all the "daughter" cells end up with a full set. Sometimes, however, there are missteps in this dance of chromosomes, which are the structures that contain a cell's genes. Due to these missteps, a piece of one chromosome might be completely lost or inappropriately stitched onto another chromosome. Often, these chromosomal rearrangements are very small and not easy to see by a student's untrained eye, but they can still have a large impact on health. With support through the NINDS Genetics and Genomics signature project, James Lupski, M.D., Ph.D., at Baylor College of Medicine in Houston is using state-of-the-art techniques to study chromosomal rearrangements, to better understand what causes them, and to investigate how they contribute to disease. More»

Biomarkers for Diabetic Neuropathy

Eva Feldman, M.D., Ph.D. - University of Michigan, Ann Arbor
Neuropathy (nerve damage) is a common complication of diabetes, but there are few ways to predict who will develop it and how it will progress. Dr. Feldman will search for biomarkers of diabetic neuropathy onset and progression, guided by earlier work suggesting a connection with elevated triglyceride levels. Feldman will use microarray technology to analyze the expression of genes related to lipid metabolism in patient nerve biopsies and in a diabetic mouse model.

Development of an Instrumented System to Measure Mobility in Parkinson's Disease

Fay Bahling Horak, Ph.D. - Oregon Health and Science University, Portland
Movement disorders experts will team up with a local start-up business to develop, produce, and test a novel clinical balance and gait assessment tool, the instrumented Timed Up and Go Test (iTUG) for patients with Parkinson's disease. Data on balance and gait will be measured with wireless sensors worn on the limbs and trunk, and automatically transmitted to a computer and converted into mobility scores. This technology will permit clinical trials in Parkinson's disease to be conducted with fewer subjects, shorter duration and lower cost.

Evaluation of Wire Electrodes to Activate Respiratory Muscles to Restore Cough

Anthony DiMarco, M.D. - Case Western Reserve University, Cleveland
Many people with cervical spinal cord injuries (SCI) cannot cough strongly enough to clear their lungs, making them susceptible to life-threatening respiratory infections. Dr. DiMarco has shown that it is possible to stimulate the chest muscles and significantly improve cough in SCI patients by disc electrodes surgically implanted near the spinal cord, via a laminectomy. This grant will support a pilot study to evaluate a less invasive alternative - using a needle to place smaller wire electrodes near the spinal cord, similar to placing a catheter. The pilot study will test the wire electrode system in six patients as they undergo surgery to receive the disc electrodes.

Attenuating the Retinal and CNS Adverse Effects of Vigabatrin with NKCC1 Inhibitors

Frances Jensen, M.D. - Children's Hospital Boston and Harvard Medical School
In this study, Dr. Jensen seeks to improve the safety of the anti-epileptic drug vigabatrin. The drug is one of the few effective treatments for infantile spasms, and has also been FDA-approved for treating refractory seizures in adults. Unfortunately, vigabatrin also causes irreversible retinal toxicity in more than 30 percent of patients. Vigabatrin works by boosting levels of the neurotransmitter GABA, which activates chloride channels and typically inhibits neurons. However, thanks to high levels of a chloride importer protein called NKCC1, retinal photoreceptor neurons appear to become over-excited and damaged by GABA. Dr. Jensen will test whether bumetanide, an NKCC1 inhibitor and FDA-approved diuretic, can protect against the toxic effects of vigabatrin in rodent models.

Genotype and Metabolic Pathways in Glioblastoma

Elizabeth Maher, M.D., Ph.D. - University of Texas-Southwestern Medical Center, Dallas
Glioblastoma (GBM), the most lethal form of brain cancer, has been traced to defects in a number of intersecting genetic pathways. Despite their genetic diversity, GBM tumors share at least one feature: they consume large amounts of glucose, a phenomenon that can be visualized by PET scans. Dr. Maher will trace this consumption of glucose through specific metabolic pathways, in an attempt to determine whether GBM tumors with unique genotypes also have unique metabolic “readouts” that could be targeted therapeutically.