The Heart-Brain Connection: The Link between LQTS and Seizures

brain and heart interactions concept best teamwork

In a study published this week in Neurology, researchers from the University of Rochester Medical Center found a clear association between the heart and the brain in patients with a rare cardiac disease called Long QT Syndrome (LQTS). Patients carrying LQTS genetic mutations were three times more likely to have experienced seizures in their past, compared to their family members who did not carry any LQTS mutations. Interestingly, LQTS patients who had a history of seizures also tended to have worse cardiac symptoms with about 20% having survived at least one lethal cardiac arrhythmia in their life.

Lead author, David Auerbach, Ph.D., senior instructor of Medicine in the Aab Cardiovascular Research Institute of the University of Rochester Medical Center, set a new clinical precedence for the link between seizures and LQTS with this study. He believes this provides a case for doctors to pay more attention to what is happening in LQTS patients’ brains or, more broadly, to “look outside the classic organ of interest” in any disease.

As a postdoctoral fellow, Auerbach studied the heart-brain connection in a severe genetic form of epilepsy, and found that cardiac arrhythmias were one cause of sudden unexplained death in people with epilepsy. When he came to URMC, he began investigating the converse – whether a genetic heart disorder was also associated with issues in the brain.

David Auerbach, PhD

In a KL2 Career Development project funded by the Clinical and Translational Science Institute at URMC, Auerbach tapped into the Rochester-based LQTS Patient Registry to answer this question. This unique resource was developed 40 years ago by the senior author of the study, Arthur Moss, M.D., Bradford C. Berk, MD, PhD, Distinguished Professor of Medicine at URMC. The registry contains information about more than 18,000 people including LQTS patients and their affected and unaffected family members, who provide a nearly ideal group of controls. “In essence, they have the same genetic makeup, except theoretically, the LQTS-causing mutation,” says Auerbach.

Auerbach and his colleagues found that patients with the three different types of LQTS (LQTS1-3) showed similar heart rhythm symptoms, but vastly different prevalence of seizures. LQTS1 and LQTS2 patients had much higher prevalence of seizures than LQTS3 or no mutation – with LQTS2 at the greatest risk.

Further investigation of the LQTS-causing mutation showed that the specific location of the mutation greatly affected the risk of cardiac arrhythmias and seizures.  In one location on the gene, the mutation protected against these symptoms, but in another location on the same gene, the mutation increased the risk of those symptoms. Understanding what each of these mutations does may shed new light on a basic mechanism of seizures and may inform LQTS treatments in the future.

To read the full study, click here.


This study involved a multi-disciplinary, collaborative effort of authors from the Departments of Medicine-Heart Research, Medicine-Aab Cardiovascular Research Institute, Neurology, and Pharmacology/Physiology at the University of Rochester Medical Center.

The University of Rochester Medical Center is home to approximately 3,000 individuals who conduct research on everything from cancer and heart disease to Parkinson’s, pandemic influenza, and autism. Spread across many centers, institutes, and labs, our scientists have developed therapies that have improved human health locally, in the region, and across the globe. To learn more, visit

CTSI Faculty Pilot Project Identifies New Hearing Test for Autism Risk

A new study born out of a Faculty Pilot project funded by the Clinical and Translational Science Institute may offer a new way to screen very young children for Autism. The study, which was published in the journal Autism Research, shows that children with Autism may have inner ear deficiencies that impact their ability to recognize speech.

Child in a hearing test

Many signs of Autism, such as social-communication impairments and restricted and repetitive behaviors, are present before age two, but most children with ASD are not diagnosed until age four. Most tests for ASD look for abnormalities in auditory communication and rely on speech to determine these abnormalities. Since speech delays are common among children affected by ASD, these tests are often ineffective.

Anne Luebke, Ph.D., associate professor in the University of Rochester Medical Center Departments of Biomedical Engineering and Neuroscience and study co-author, believes that the hearing test described in the study may lead to earlier ASD diagnoses and treatment, which will optimize the impact of the treatment.

In the study, researchers used speaker/microphone earplugs to measure hearing deficiencies in children between the ages of 6 and 17, roughly half of whom have been diagnosed with ASD. They found that the children with Autism showed signs that the ear was having difficulty processing sounds at a specific frequency (1-2 kHz) that is important for processing speech.  They also found a correlation between the degree of hearing impairment and the severity of ASD symptoms.

Loisa Bennetto, Ph.D., associate professor in the University of Rochester Department Of Clinical and Social Sciences in Psychology and a co-author of the study, suggests that difficulty in processing speech could contribute to some symptoms of ASD. “Consequently, early detection could help identify risk for Autism and enable clinicians to intervene early and correct impairment with hearing aids or other approaches that can improve the range of sounds that the ear can process,” she says.

Because the test is non-invasive, inexpensive, and does not require the subject to respond verbally, the team is currently exploring ways to adapt this technique to screen infants.


Luebke and Bennetto received a Faculty Pilot Award from the UR CTSI in 2010 to study cochlear efferent feedback in Autism. 

New Study: Race, Not Gender, is Key Factor in NIH Funding

ThinkstockPhotos-87671566A new study in Academic Medicine has found that race, not gender, is the most significant factor influencing funding from the National Institutes of Health (NIH). The study, led by University of Kansas economist, Donna Ginther, PhD, demonstrated that women of color were less likely to receive NIH funding compared with Caucasian women.

This research follows Ginther’s 2011 study on “Race, Ethnicity, and NIH Research Awards”, which showed that Asian and African American applicants were less likely to be awarded NIH research grants than Caucasian peers from similar backgrounds and with similar qualifications regardless of gender. In the current study, Ginther and her colleagues set out to identify possible “double binds”, or additional barriers, that Asian and African American women may face when applying for NIH funding.

Although researchers self-identify race, ethnicity, and gender, on grant applications, this information is removed prior to peer review. Nonetheless, applications may contain biographical features that provide clues to the applicant’s racial or gender identity. Ginther and her colleagues analyzed gender, race, professional degree, and level of experience of R01 awardees from 2000 – 2006.

Study results showed a lower probability of obtaining NIH grant funding among Asian and African American women PhDs and African American women MDs, compared to Caucasian women MDs and PhDs. Caucasian women were also just as likely as Caucasian men to obtain an R01. In fact, the study showed no disadvantage for women when race was not taken into account, suggesting that race/ethnicity plays a larger role than gender in NIH funding disparities.

While gender was not a factor in probability of securing NIH funding, the study reported that women submitted fewer applications and were more likely than men to drop out of the R01 applicant pool after a single, unsuccessful application. These trends are supported by previous studies and may explain why women constitute only about 30% of overall research project grant Principle Investigators (PIs), and only about 20% of NIH research center and small business research program PIs.

While the biomedical research workforce is becoming more diverse, certain racial/ethnic groups, women, and people with disabilities remain underrepresented. In 2010 African Americans comprised 12.6% of the U.S. population, but only accounted for 1.1% of scientists who received research project grants from the NIH. In comparison, Caucasians made up 72.4% of the general population and 71% of the NIH-funded scientists pool.

The findings from this study highlight the importance of addressing the racial gap among NIH awards. Researchers from under-represented populations should be encouraged to take advantage of various NIH mechanisms, such as the National Research Mentoring Network and the Women of Color Research Network, to obtain mentorship and professional development.

REDCap Tip of the Month: Adding Progress Bars in REDCap

Having a progress bar can be a nice visual aid for survey respondents and may help reduce survey dropout. REDCap doesn’t have the capability to create a progress bar out of the box, but you can add one with some clever use of HTML.

The following HMTL can be cut and pasted into any section of REDCap that accepts HTML. However, we do recommend that you use either a section header or a descriptive field for your progress bar.

Progress Bar

To create a custom progress bar, change the value of the bolded text in a HTML statement to the percentage you want. We do recommend you start with a progress of 2% instead of 0% in order to alert your participants to the existence of a progress bar.

Additionally, you change the color of the progress bar by changing the background color values. See a list of web-safe colors and their hex values (i.e. #8491A2).

This tip of the month was based on an idea by Luke Stevens of the Murdoch Children’s Research Institute in Melbourne, Australia.


This is a running update of the REDCap tip of the month provided by the University of Washington Institute of Translational Health Sciences. To read more tips on the ITHS website, click here.

UR CTSI Welcomes New Medical Students in the Academic Research Track

Each year, the University of Rochester Clinical and Translational Science Institute (UR CTSI) funds a handful medical students during a mentored “year-out” for research experience.  The Academic Research Track (ART) program offers students who are interested in pursuing research as part of their careers the opportunity to delve into basic, clinical, educational, or translational research through seminars, mentored research and an enriched medical school curriculum.

This highly competitive program offers NIH-level stipends with some additional funds to support students’ research projects. The UR CTSI also offers tuition reimbursement for funded scholars who wish to pursue a Master’s Degree at the University of Rochester School of Medicine and Dentistry concurrent with their year of research.

The new crop of ART scholars are now underway with a variety of research projects:

IanDeandreaLazarus2Ian De Andrea-Lazarus will be studying “Early Life Lead Exposure and Executive Functions Using the Stroop Day-Night Task” under the mentorship of Todd Jusko, Ph.D., during his year out.

Ian grew up in Bergenfield, NJ, and earned a Bachelor of Arts in Psychology with a minor in Chemistry at Gallaudet University, where he graduated summa cum laude and with University Capstone Honors. He is currently pursuing dual M.D./M.P.H. degrees at the University of Rochester School of Medicine and Dentistry (UR SMD).

Ian has demonstrated a keen interest in biomedical research since his undergraduate studies, conducting research in linguistic analysis at Gallaudet, and population health in the National Center for Deaf Health Research at UR CTSI. After graduating from Gallaudet, Ian studied thermoregulation and pain receptors associated with cancer during a two year Post-baccalaureate fellowship in the Laboratory of Cancer Biology and Genetics at National Cancer Institute while teaching Psychology as an adjunct professor at Gallaudet University.

Ian’s career goals are vast and varied. He has a passion for medicine – with an eye on neurosurgery, neurology, or psychiatry as a specialty – but he also considers himself an innovator. As a Deaf scholar, he is trying to develop new technologies to provide live captioning and interpretation for Deaf or Hard of Hearing individuals when interacting with hearing individuals – something a Deaf physician may have to do dozens of times a day.

Chase Kwon_Headshot1Chase Kwon, mentored by Lisa Beck, M.D., will implement, “A Systems Biology Approach to Identify Determinants of Staphylococcus Aureus Colonization in Atopic Dermatitis” during his ART study.

Chase grew up in Fort Lee, NJ, and attended Cornell University, where he graduated with a Bachelor of Arts in Biological Sciences in 2012. As an undergraduate, he worked in the Cerione Lab at Cornell, examining the role of a novel cellular signaling pathway in the transformation of healthy cells to cancerous cells.

Chase will return to his fourth year of medical school at URSMD after his year of research experience in the ART program. In the future, he hopes to pursue a career in academic medicine, combining his passion for clinical dermatology, medical education, and scientific research.

MagnoJinno Jinno (Tony) Magno, under the supervision of Jessica Shand, M.D., M.H.S., will study “HMGB1 modulation of inflammation and immune responses in MLL rearranged infant acute lymphoblastic leukemia”.

Tony grew up in Florence, CO, and graduated from the University of Colorado, Boulder, in 2012 with a dual Bachelor of Arts in Molecular, Cellular and Developmental Biology and Integrative Physiology. While pursuing his undergraduate degree, he conducted two research projects that gave him experience in both basic and population-based research.

At UC Boulder, Tony studied signaling pathways that influenced the development of neurons that play a major role in anxiety and depression. Shortly thereafter, he teamed up with the Colorado Area Health Education Centers to investigate whether health care education programs for high school and undergraduate students could increase the number of healthcare providers from rural and underrepresented backgrounds.

As a third year medical student, Tony has been conducting research related to his ART project for the past several years at URSMD. His research focuses on the role of a specific inflammatory molecule in treatment resistance of a deadly childhood cancer, called Mixed Lineage Leukemia-rearranged infant acute lymphoblastic leukemia. Developing drugs that target this inflammatory molecule – or other molecules in its signaling pathway – may help eradicate this cancer in affected children.

headshotWeisenthal1Sam Weisenthal will conduct an ART research project titled, “Using machine learning to predict ICU readmissions 48 hours before they occur”, under the mentorship of Martin Zand, M.D., Ph.D., while pursuing a Master’s degree in Data Science.

 Sam grew up in Syracuse, NY, and graduated magna cum laude from nearby Hamilton College with departmental honors and a Bachelor of Arts in Mathematics in 2013. He is also a member of the Phi Beta Kappa academic honor and Sigma Xi scientific research societies.

After college, Sam received an intramural research training award (IRTA) from the National Institutes of Health for which he helped build an open-source system to monitor the amount of X-ray radiation a patient receives during a CT scan. He also recently received funding from the Office of Medical Education to analyze text data via topic modeling.

During his undergraduate career, Sam had several volunteer experiences that allowed him to interact with patients. These experiences and the prospect of analyzing large amounts of electronic medical record data drew him to a career in medicine. Ultimately, he would like to marry his love of math, computer science, and medicine as a clinician and data analyst.


Ray Dorsey: Telehealth Will Transform the Health Care System

The University of Rochester Clinical and Translational Science Institute’s associate director for Clinical Trial Methods and Technologies, Ray Dorsey, M.D., M.B.A., co-authored a review article in the New England Journal of Medicine published this week.  The review suggests that the growth of telehealth, a patient-centered initiative for electronic distribution of health-related services and education, will have a profound impact on the delivery of health care in the coming decades.


Ray Dorsey

Ray Dorsey, M.D., M.B.A. 

Dorsey, who is also the director of the Center for Human Experimental Therapeutics at the University of Rochester Medical Center, and his co-author Eric Topol, M.D., at the Scripps Research Institute, believe telehealth will reduce the cost and increase the convenience of health care. Instead of waiting 20 days to secure a 20-minute appointment that, with travel time factored in, could take up two hours, patients could have a virtual visit with their physician almost any time of day in the comfort of their own home.

Telehealth is growing rapidly and its use has expanded from treating acute conditions, like stroke, to episodic and chronic conditions, like ear infections and Parkinson’s disease. Likewise, the application of telehealth has spread from hospitals to clinics, and finally to patients’ own mobile devices.

In fact, Dorsey and his colleagues at the University of Rochester developed a mobile phone application to remotely assess symptom progression and medication effectiveness in Parkinson’s disease patients. This application is part of the first national randomized controlled trial of telehealth in Parkinson’s disease, led by Dorsey. That trial, which will be completed later this summer, will determine the effectiveness of using video calls to connect Parkinson’s patients with expert care.

While telehealth has potential to provide basic health assessments to previously unreachable patients, Dorsey and Topol acknowledge that it will not replace traditional office visits. However, if properly harnessed, these new technologies will help providers and health care systems meet the growing burden of chronic diseases, increase access to care, and return health care to its patient-centered roots.

For a related article, click here.

To read the full review, click here.

Announcing the Winners of a New Collaborative Pilot Award Program

The University of Rochester Medical Center is teaming up with the State University of New York at the University of Buffalo (SUNY UB) on a collaborative genomics project. Both URMC and SUNY UB have strengths in bioinformatics, high performance computing, basic and translational genomics, including NIH funded Clinical and Translational Science Awards.

To accelerate collaboration between our institutions, a URMC-SUNY UB Collaborative Genomics Pilot Award Program has been implemented. The pilot awards will provide one year of seed funding to research teams with dual principle investigators – one from each institution – who are interested in understanding the genetic basis of diseases.

The winning proposals show promise to make rapid progress over the next year and build upon established strengths at both institutions.  The overall goal of this pilot funding is to help researchers obtain further federal or foundation funding and to take advantage of opportunities for regional collaboration across NY state.

Two projects were selected for funding:

The Role of CCR2 Blockade in Patients with Locally Advanced Pancreas Cancer


Epigenetics profiling of Exacerbation Susceptibility in Chronic Obstructive Pulmonary Disease

  • Patricia Sime M.D., professor of Medicine, University of Rochester Medical Center
  • Sanjay Sethi M.D., professor and chief of Pulmonary, Critical Care, and Sleep Medicine, University at Buffalo, SUNY