KNRF Researchers

Dr. Stephanie Ceman (U of I):  The overall goal of Dr. Ceman’s research is to understand the genetic underpinnings of how the brain learns new skills and remembers new information.  Toward this goal, she is studying how the Fragile X gene mutation produces impaired cognitive function and other behavioral abnormalities such as autism.  This gene mutation causes a loss of the Fragile X protein (FMRP), which she found normally interacts with a protein enzyme (RNA helicase) called MOV10.  Because little is known about MOV10 in the brain, the goal of her grant is to breed a colony of mice that have no MOV10 in their brain and then study the impact of MOV10 deficiency on learning and memory.  She had hypothesized that the loss of MOV 10 would impair learning and memory, but was surprised to learn it improved learning and memory (hear a tone then react to avoid an electrical shock to the foot).  Future goals include studies of structural changes in the brains of these “MOV 10 knockout” mice and determine if other types of memory and learning are impacted in the same way(s).

Dr. Daniel Tranel (U of Iowa):  Dr. Tranel has created an educational program that is designed to improve the wellbeing of dementia patient caregivers and has developed a “Dementia Information Packet” for patients with early to mid-stage dementia.  His team has distributed 210 of these packets to patients and caregivers over the past year.  He is also exploring the use of music in treating dementia patients, specifically LIVE music.  He compared small group singing to standard verbal conversation, predicting that the music therapy intervention would result in improved self-reported feelings, positive emotions, and constructive social engagement when compared to the verbal discussion.  In support of his hypotheses, the singing-based intervention yielded a significant positive effective on self-reported feelings, observed emotions, and observed constructive engagement, particularly for those with moderate dementia.  Future goals include additional caregiver workshops to determine if there are measurable benefits from the workshop six months later. The music study results will be submitted for publication.

Dr. Grayson Holmbeck (Loyola University): Dr. Holmbeck has presented in the past regarding his research with Camp Independence, a YMCA program specifically created to help children with spina bifida live more independently.  His research is unique in that it spans 15 years.  Many campers have returned over the years to Camp Independence, and one of his focus areas is to measure the long-term effectiveness of Camp Independence and the benefits of annual participation compared to participation less frequently.  Findings from this research suggest that repeated participation in the camp independence intervention improves independence.  However, repeated attendance at camp did not affect changes in social functioning.  This study is the first investigation in which each camper’s participation and functioning level were examined over multiple years.  More generally, it is the first study, to our knowledge, of the cumulative effects of any summer camp-based psychosocial Intervention.  Future goals include continuing to accumulate data on long-term campers with annual camp experiences versus campers who have participated in fewer camps.  Fortunately, the camp returned this year to an in-person experience, after two years of “virtual” camp.

Dr. Daniel Llano (U of I): Dr Llano developed a new method of assessing the cerebral microvasculature and blood flow in mice, called super-resolution ultrasound localization microscopy (ULM).  He found that aging causes a decrease in blood flow in multiple brain regions and an increase in the tortuosity of blood vessels.  Future goals include using ULM as a tool to study Alzheimer Disease (AD).  He has already found quite profound reductions in brain blood flow in mice with genetically-induced Alzheimer pathology, especially in brain structures known to be affected in people with AD.  Over the next year, he plans to characterize these changes further and determine 1) which brain regions show most AD-related changes and 2) what the time-course is for these changes.  He ultimately hopes to use ULM to assess therapeutic interventions in these AD mice.  Such interventions include aerobic exercise and neuroprotective agents.

Dr. Robin Bowman (Lurie Children’s): Dr Bowman is working to perfect performing laparoscopic surgery on fetuses that have spina bifida.  Her hypothesis is that repairing the neural tube defects earlier will mitigate the impact and complications of spina bifida.  She has developed an important large database for tracking children that are treated for spina bifida (SB).  Neurological, urological, and orthopedic impairments are collected along with each patient’s surgical history.  Social status, sleep and swallowing studies, and cognitive/developmental progress are also collected.  Dr Bowman now has a uniquely large and comprehensive database of 665 patients to evaluate long-term surgical outcomes in a prospective manner.  Future goals include comparing the swallowing function and sleep quality in newborns with open spina bifida that was surgically closed prenatally versus postnatally. 

Dr. Rodger Elble (SIU Springfield):  Our Medical Director, Dr. Elble. performs research activities focused on the diagnosis and treatment of tremor disorders.  Clinical diagnosis is commonly based on the collective consideration of multiple clinical observations and tests, and Dr Elble published a paper describing a Bayesian statistical approach to tremor diagnosis.  He also discovered that “experts” are biased by their research interests and clinical expertise when diagnosing patients with tremor, resulting in frequent diagnostic disagreement among clinicians.  He also published articles on the use of electrophysiologic methods that are extremely helpful in the diagnosis, quantification, and pathophysiologic elucidation of all forms of tremor.  He collaborated in the adaptation of facial recognition software for the purpose of quantifying head tremor.  Examinations of patients with tremor and other movement disorders are routinely video recorded, and the video recordings are then assessed by “experts”.  However, it is now clear that video recordings can be assessed objectively with computerized visual analysis.  He collaborated with five pharmaceutical companies in the design and execution of controlled trials of new drugs for essential tremor, and published a paper that describes the results of the first trial that has been completed.  Finally, he has developed two patient reported outcome scales for the assessment of tremor on activities of daily living.  Both scales are now being validated in multicenter studies.  As an aside, Dr. Elble started with KNRF in August 1997, and since then, his work has been cited by other researchers more than 20,000 times.  Dr. Elble credits KNRF for making this possible and is very grateful for the many years of support.

Dr. Ty Hasselman (OSF Peoria):  Dr Hasselman has enrolled 204 patients in a study to compare the executive function deficits of children with congenital heart defects (CHD) at high risk versus low risk, with 169 in the high risk group and 35 in the low risk group.  He evaluated 35 of the 204 patients this year.  He is assessing neurodevelopment and executive function in patients ages 2 months to 17 years.  Future goals are to complete the enrollment and identify risk factors for impaired neurodevelopment and executive function.  Preliminary indications are that more than 50% of the high risk group have executive function deficits compared with 42% of those patients in the low risk group with no associated genetic syndromes.  Patients will be followed prospectively, treatment plans will be tailored to the information obtained in this study.

Dr. Elliot Roth (Northwestern U & Shirley Ryan Ability Center): The goal of Dr. Roth’s research is to better understand the impact of Long COVID and ways to improve recovery from it.  Specifically, he will assess the efficacy of intensive Attention Process Training (APT-3) for helping patients recover from long COVID brain fog.  Currently no guidelines exist for interventions that focus on cognitive ability improvements, and there is a lack of studies regarding assessing potential treatments.  Dr. Roth will focus on twenty (20) individuals with Long COVID that includes brain fog for three (3) months after initial infections.  His studies will include an assessment for depression, anxiety, and fatigue both pre- and post-treatment. 

Dr. Nico Dosenbach (Washington U): Dr. Dosenbach’s overall goal is to understand how brain plasticity works.  To do this, he casts a normal limb to promote useful plasticity (reorganization) in the brain to improve function in the opposite limb following brain injury.  He uses functional MRI (fMRI) brain scans to measure changes in brain activity when the dominant limb is “inactivated” with a cast (a model of paralysis due to stroke or cerebral palsy using normal volunteers).  As expected, he discovered that the brain diverts activity from the brain network that controls the casted limb and increases activity to the network controlling the freely moving limb.  An unexpected finding was that the activity within the “unused” network maintained its integrity and seemed to strengthen due to increased nerve activity within the unused network.  Future studies will attempt to confirm these observations in healthy volunteers and compare these results to those obtained in children paralysis due to brain injury.

Dr. Ahmad El Kouzi (SIU School of Medicine):  Dr. El Kouzi’s research focuses on Tolerance, Rebound and Overshoot (TRO) that occurs in patients with tremor disorders.  Patients with tremor disorders such as Parkinson’s disease may have electrodes implanted in their brain (deep brain stimulation, or DBS) to help control the tremors.  Tolerance is defined as DBS becoming less effective over time. Rebound is defined as having the tremors more pronounced when the DBS is turned off.  Finally, Overshoot is defined as more benefits than expected when the DBS is turned back on.  Dr. El Kouzi’s research investigates if the presence of TRO correlates to a rapid decline in the benefit of DBS, and if a greater magnitude of stimulation intensity is needed with patients experiencing TRO in order to control the tremors.  He is further investigating if the presence of TRO correlates to the placement of the electrode leads.