Dr. Helen Su, a clinical immunologist who has made key discoveries into the genetic causes of rare immune system diseases in children, has been awarded the fourth annual Gale and Ira Drukier Prize in Children’s Health Research by Weill Cornell Medicine.

Credit: Stephanie Diani/Provided

The Drukier Prize honors an early-career pediatrician whose research has made important contributions toward improving the health of children and adolescents. Su, chief of the Human Immunological Diseases Section at the National Institute of Allergy and Infectious Diseases, part of the National Institutes of Health, is being recognized for her innovative research into rare pediatric immunodeficiency diseases and translating findings into potential treatments for these patients.

This work also extends to more common diseases such as allergies and viral infections.

“Dr. Su is a talented clinician-scientist whose discoveries have furthered our understanding of the genetic causes of rare pediatric immune diseases,” said Dr. Augustine M.K. Choi, the Stephen and Suzanne Weiss Dean of Weill Cornell Medicine. “Her innovative research using cutting-edge approaches and efforts to translate her work into new treatments has offered hope to countless children affected by these disorders and their families.”

“We are thrilled to be recognizing Dr. Su with this award,” said Gale Drukier and Weill Cornell Medicine Overseer Ira Drukier, who together in 2014 established the prize. “Dr. Su’s dedication to bettering the lives of young patients through her groundbreaking pediatric research into DOCK8 immunodeficiency syndrome and other rare immune disorders is exceptional.”

“Dr. Su’s research illustrates the value of understanding the basis of rare hereditary immune disorders,” said Dr. Virginia Pascual, the Drukier Director of the Gale and Ira Drukier Institute for Children’s Health. “Not only has her work helped to guide treatment for children with these diseases, but she has also advanced the field of immunology through her fundamental insights into how the human body protects itself from infection. Her research has the potential to help children worldwide.”

Su’s research brings together clinical information with technological developments in genomics, biochemistry and molecular biology – such as sequencing all the protein-coding regions of the human genome – to identify gene mutations associated with diseases that affect the immune system. The findings may lead to improved diagnosis and better treatments.

Su’s work has provided critical insights into DOCK8 immunodeficiency syndrome, a rare immune system disease that is difficult to diagnose because it masquerades as more common conditions, such as respiratory infections, middle ear infections, eczema, food allergies and skin infections. Children with DOCK8 immunodeficiency syndrome, however, reach a point at which infections of the skin and respiratory system worsen over time, and they are at increased risk for some forms of cancer.

In 2014, Su and her colleagues showed that when the DOCK8 protein is missing, as occurs in these patients, white blood cells that travel to the skin and normally fight off viral infections there die, impairing immunity within the skin.

Recently, Su and her colleagues identified a rare mutation in the gene that produces a protein called MDA5, which plays an important role in fighting viral infections. The faulty MDA5 protein results in a markedly increased susceptibility to infection by human rhinoviruses, the main causes of the common cold.

The Gale and Ira Drukier Prize in Children’s Health Research was established in December 2014 as part of a $25 million gift to Weill Cornell Medicine. The gift also created the Gale and Ira Drukier Institute for Children’s Health – a premier, cross-disciplinary institute dedicated to understanding the underlying causes of diseases that are devastating to children. As part of its mission, the institute awards the annual prize, which carries an unrestricted honorarium, to recognize the innovative work done by young investigators in pediatric research.

Su received her B.A. from Brown University in 1990 and her medical degree and doctorate in pathobiology, also from Brown, in 1998. Su has received several awards and honors, including the NIH Director’s Award in 2010 and NIH Merit Awards in 2015 and 2018, and the Society for Pediatric Research E. Mead Johnson Award in 2018.

Joseph Bonner is a freelance writer for Weill Cornell Medicine.