Meet the Scientists Behind the Breakthroughs

Recognizing Dr. Barseghyan and Dr. Bornhorst

In the ever-evolving world of scientific discovery, breakthroughs often capture headlines and spark public imagination. But behind these monumental achievements are dedicated scientists, tirelessly working to push the boundaries of knowledge. At Imagine An Answer, we believe breakthroughs begin with bold curiosity and rigorous science. In this article, we want to introduce two of the researchers whose determination is pushing pediatric brain tumor science forward: Dr. Hayk Barseghyan and Dr. Miriam Bornhorst.

Dr. Hayk Barseghyan, PhD

Children’s National Hospital / Pediatric Mendelian Genomics Research Center

Dr. Barseghyan is a genomic scientist specializing in identifying complex structural changes in DNA that traditional methods often overlook. His research spans pediatric brain tumors and rare genetic disorders, bringing precision “diagnostic closure” to families who have long waited for answers.

He co‑authored landmark studies with Dr. Bornhorst applying optical genome mapping (OGM) to uncover novel genetic fusions in pediatric brain tumors. His expertise in computational genomics allows researchers to interpret vast datasets and reveal hidden patterns that influence tumor behavior.

Dr. Barseghyan is also a pioneer in introducing new genomic technologies, such as long-read sequencing (LRS), into pediatric oncology research. These approaches allow scientists to study not just genes but also their regulation—deepening our understanding of how tumors grow and resist treatment.

By bridging laboratory innovation with clinical application, Dr. Barseghyan is helping expand the frontier of what’s possible in pediatric brain cancer diagnosis and care.

Dr. Miriam Bornhorst, MD

Ann & Robert Lurie Children’s Hospital, Northwestern University Feinberg School of Medicine

Dr. Bornhorst leads research at the intersection of genomics, neuro-oncology, and cancer predisposition syndromes. Her lab focuses on identifying novel biomarkers in brain tumors, especially for patients with conditions like NF1 or when conventional testing finds no clear driver.

One of her major efforts is advancing OGM as a new diagnostic tool in pediatric brain tumors. While standard tests often look for small gene changes, OGM detects larger structural variants that are often missed. Early findings show that ~30% of patients whose standard tests came back negative actually had clinically important structural variants identified by OGM.

In 2024, Dr. Bornhorst secured a $3.7 million Cancer Moonshot Scholars grant to bring OGM closer to clinical use. This project will study more than 1,500 pediatric brain tumor samples, with the goal of making precision diagnosis faster and more reliable.

She has also been recognized with awards such as the Department of Defense Neurofibromatosis Research Program New Investigator Award, highlighting her commitment to understanding tumor metabolism and growth. Her vision is clear: translate discoveries from bench to bedside so that children and families benefit more quickly from research breakthroughs.

What They’ve Accomplished Together

Philanthropy from Imagine An Answer helped drive vital research to better understand pediatric low-grade gliomas (pLGG) at a molecular level. This work united Dr. Barseghyan at Children’s National and Dr. Bornhorst at Lurie Children’s Hospital of Chicago to launch the first-ever study applying optical genome mapping (OGM) to pLGGs.

• Breakthrough: OGM revealed larger chromosomal rearrangements that standard genetic testing misses, opening the door to more precise treatments.

• Progress: Over the past two years, the team mapped 33 tumor samples — 15 aggressive and 18 non-aggressive, including 18 pilocytic astrocytomas.

• Impact: Their ongoing research is analyzing links between genetic changes, tumor aggressiveness, treatment response, and patient outcomes. This knowledge will shape how doctors identify and treat aggressive brain tumors in children.

Summary

These scientists form part of a cross‑disciplinary, international effort that turns every genetic discovery into a step toward better treatment. Their breakthroughs directly advance Imagine An Answer’s mission: giving children with brain tumors faster answers, better therapies, and more hope. Their stories remind us that community support fuels real scientific progress.