Published on in CHOP News
Ingo Helbig, MD , a pediatric neurologist in the Division of Neurology at Children's Hospital of Philadelphia (CHOP), director of the genomic and data science core of the CHOP Epilepsy Neurogenetics Initiative (ENGIN), and Assistant Professor of Neurology and Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, has been named a recipient of a 2019 Hartwell Individual Biomedical Research Award.
The Hartwell Individual Biomedical Research Award provides support for innovative, early-stage biomedical research with the potential to benefit children of the United States, specifically seeking to fund innovative and cutting-edge applied research that has not yet qualified for funding from traditional outside sources. The award is made possible by The Hartwell Foundation and provides funding for three years at $100,000 in direct costs per year. Helbig was funded for his research proposal entitled “Delineating Subgroups and Outcomes in Neurodevelopmental Disorders through Computational Phenotypes.”
Helbig has a strong interest in neurogenetics, combining bioinformatics and data science approaches to understand childhood epilepsies and neurodevelopmental disorders. He is one of only 11 researchers recognized nationwide in 2020 as a Hartwell Investigator by The Hartwell Foundation. Penn has participated for seven years in the Hartwell competition and received four Individual Awards.
Helbig’s project aims to understand how large-scale clinical information, including data derived from thousands of patients from their electronic medical records, can be meaningfully combined with genomic data to understand the causes, outcomes, and natural histories of neurodevelopmental disorders, including conditions such as developmental delay, attention-deficit/hyperactivity disorder, autism spectrum disorder, dyslexia, intellectual disability, and epilepsies. Approximately 15% of children in the United States between the ages of 3 to 17 are affected by neurodevelopmental disorders, which represent a significant burden to children and their families, as symptoms can last well into adulthood.
To address the gap in understanding clinical data, Helbig’s Hartwell project will include a systematic examination of clinical information and large-scale longitudinal data combined with genetic data from thousands of individuals with neurodevelopmental disorders. Combining genomic analysis in neurodevelopmental disorders with data analysis of large-scale electronic medical records will introduce a paradigm shift in biomedical genetics. Integrating clinical data in a computable format to discover relationships beyond the capacity of manual analysis will improve early diagnosis and predict outcome measures that should facilitate closing the gaps in special needs care and improve the lives of affected children and their families.
“The Hartwell Foundation seeks to inspire innovation and achievement by offering individual researchers like Ingo Helbig an opportunity to realize their professional goals while pursuing biomedical research to advance children’s health.," said Fred Dombrose, President of The Hartwell Foundation.
Each year The Hartwell Foundation invites a limited number of leading educational and research institutions in the United States to carry out an internal competition to nominate candidates from their faculty who meet the award’s criteria. In the 2019 competition, 16 distinguished institutions participated and 11 researchers from 10 different institutions received a Hartwell Individual Biomedical Research Award.
In selecting awardees, the Foundation takes into account the compelling and transformative nature of the proposed innovation, the extent to which a strategic or translational approach might accelerate the clinical application of research results to benefit children of the United States, the extent of collaboration in the proposed research, the institutional commitment to provide encouragement and technical support to the investigator, and the extent to which funding the investigator will make a difference.
In addition to the individual Award to Helbig, the University of Pennsylvania also receives funding for one postdoctoral fellowship that they designate to a scientist or engineer who has completed a Ph.D. or equivalent doctorate, who is still in the early stages of career development and exemplifies the values of the Foundation. Each Hartwell Fellowship provides $50,000 direct costs per year for two years to enable specialized training in biomedical research.
Helbig is a leading researcher in the field of neurogenetics and has authored or co-authored more than 180 scientific articles published in a variety of respected epilepsy and genetics journals. He is a member of several international societies, including the American Academy of Neurology and the Child Neurology Society. In 2019, he was one of the founding members of ENGIN at CHOP, a unique program which integrates genetic testing into the diagnosis and treatment of children with difficult-to-treat or unexplained epilepsies, and provides access to expert care for children with genetic epilepsy syndromes and other genetic neurodevelopmental disorders.
Helbig directs the training aspects of ENGIN and is the fellowship director for CHOP’s ENGIN fellowship.
He received his medical degree from the University of Heidelberg Medical School. After a research fellowship in pediatric epileptology at the Epilepsy Research Centre, Melbourne, Australia, Helbig completed his pediatric a child neurology training at the Department of Neuropediatrics at the University Hospital Schleswig-Holstein in Germany before transitioning to CHOP. Helbig has led several international collaborations in the field of epilepsy genetics and was a member of the Genetics Commission of the International League Against Epilepsy (ILAE) from 2014-2017. He currently leads the Epilepsiome Task Force of the ILAE Genetics Commission, which aims at increasing genetic literacy in the epilepsy community, and co-heads the ClinGen Epilepsy Gene Curation Expert Panel, tasked with curating diagnostic criteria for epilepsy genes. Helbig is widely recognized for the neurogenetics blog “Beyond the Ion Channel.”
About Children’s Hospital of Philadelphia: Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. In addition, its unique family-centered care and public service programs have brought the 564-bed hospital recognition as a leading advocate for children and adolescents.
Contact: Ben Leach, The Children’s Hospital of Philadelphia, 267-426-2857 or email@example.com