Tag Archives: amyotrophic lateral sclerosis

Novel Zebrafish Research Contributes to More Effective Diagnosis, Treatment of Neurodegenerative Disorders

Researchers at Penn State Neuroscience Institute not only conduct pre-human scientific studies of various medical conditions, but also see patients daily, giving these physicians a perspective not found in most laboratories. Mark Stahl, M.D., Ph.D., assistant professor of neurology and neural and behavioral sciences, details one such study involving “molecular tweezers” to break up the aggregation of misfolded proteins known as α -synuclein.1 These aggregated proteins are associated with the development of neurodegenerative disorders such as Parkinson’s disease, for which there are currently symptomatic therapies but no treatments that can alter the disease course.1

Zebrafish research

LEFT: Zebrafish overexpressing neuronal human alpha-synuclein (red) have poor morphology, neuronal death and poor survival. RIGHT: “Molecular tweezers” like CLR-01 can rescue this phenotype.

Continue reading

Leave a comment

Filed under Patient Care, Research

Ongoing Research Probes Genetic Basis For Amyotrophic Lateral Sclerosis

Genetic Basis for Amyotrophic Lateral Sclerosis

Dr. William Freeman examines the output from an Illumina HiSeq 2500, a Next Generation Sequencing instrument within the Penn State Hershey Institute for Personalized Medicine (IPM) capable of determining the 3 billion base sequence of a patient’s genome in only 24 hours for less than $5000. By comparison, determination of the first genome sequence 15 years ago required 10 years and $3 billion.

It has been long assumed that the majority of amyotrophic lateral sclerosis (ALS) cases occur sporadically, while only 5 to 10 percent are defined as genetic, in which ALS is inherited via a straightforward autosomal-dominant mechanism. However, researchers at the Penn State Hershey ALS Clinic and Research Center, working in collaboration with the Institute for Personalized Medicine at Penn State Hershey Medical Center, have now found that more cases occur as the result of extremely complex genetic factors than previously thought. Researchers have helped determine that many cases appear to be recessively inherited, which would account for the fact that there is no identifiable history elsewhere in close relatives. Continue reading

Leave a comment

Filed under Research

Research Examines Customization of Brain-Computer Interface (BCI) Technology in Patients with ALS and Cognitive Decline

The novel technology of brain-computer interface (BCI) uses brain activity, as measured by electroencephalogram (EEG) to control external devices, facilitating paralyzed patients’ ability to communicate. This technology¹ can allow patients with amyotrophic lateral sclerosis (ALS) to communicate even after they have lost the gaze control necessary for eye-tracking communication programs.¹ For maximum efficacy, BCI programs must account for aspects of disease heterogeneity, such as cognitive impairment, according to Andrew Geronimo, Ph.D., instructor, Penn State Hershey Neurosurgery.

“Our primary contribution to the ongoing ALS patient research is to account for cognitive impairment as we customize BCI programs for each patient,” says Geronimo, who is conducting ongoing studies in the area. “It represents the future direction of this field.” Cognitive decline is present in 50 percent of patients with ALS, once thought to be a purely motor neuron disease, with 15 percent of patients meeting the clinical criteria for dementia. While most clinicians are aware of this fact, the majority of BCI designers are not, a knowledge gap that Geronimo hopes to bridge with his work. Continue reading

Leave a comment

Filed under Research