Indiana Biosciences Research Institute collaboration helps discover new genetic disease

January 28, 2019

INDIANAPOLIS, Jan. 28, 2019 -- A collaborative research project led in part by the Indiana Biosciences Research Institute (IBRI) has resulted in the first description of a new monogenic disease, named, “DHPS Deficiency.” 

Dr. Teresa Mastracci, who leads the Regenerative Medicine and Metabolic Biology (RMMB) group in the IBRI Diabetes Center, and Dr. Wendy Chung, Kennedy Family Professor of Pediatrics in Medicine at Columbia University Vagelos College of Physicians and Surgeons, and their teams and collaborators published a landmark study identifying the first human mutations in the deoxyhypusine synthase (DHPS) gene.

DHPS is an enzyme that is essential for the production of the unique amino acid, hypusine, which works in every cell of the body to help make proteins. The function of DHPS is essential for life. The mutations identified in the patients in the study cause a reduction in DHPS enzyme activity, which leads to clinical symptoms, including neurodevelopmental delay and seizures. The study, which began in mid-2017, identified five people, mostly children, from four unrelated families, who all developed similar if not identical symptoms of unknown cause, until the identification of common DHPS mutations. The research study was published Jan. 17, 2019, in the American Journal of Human Genetics.

The large collaborative team included scientists and medical professionals from Columbia University Irving Medical Center, Indiana Biosciences Research Institute (IBRI), Indiana University School of Medicine, NYU Langone Health, GeneDx, University of Calgary, Duke University Medical Center, Ann & Robert H. Lurie Children’s Hospital of Chicago, Feinberg School of Medicine at Northwestern University and the National Institutes of Health (NIH).

“This work is significant not only because it is the first description of a new monogenic disease, but as a result of the study’s publication, we’ll be able to find other affected individuals and families from around the world, as well as direct our research toward finding an effective treatment so that one day testing for DHPS Deficiency can be included when infants are screened for genetic diseases,” said Dr. Mastracci.


“The families affected by this disease have been so supportive of our work, which was essential to the success of the study. In the short time we’ve been working together, the DHPS Foundation has also been formed, which continues to help get the word out and support other families living with this disease,” said Dr. Chung. “As with so many rare genetic diseases, the more we work together and support advances in our understanding, the closer we come to translating our findings to therapies that reduce the burden of disease for all patients.”

Drs. Mastracci and Chung are also involved in a larger research consortium that includes groups from around the world that are studying similar and multiple rare cell disorders.

About IBRI

The Indiana Biosciences Research Institute (IBRI) is a non-profit, independent applied research institute formed in 2013. The IBRI exists to bring together companies and universities to work collaboratively on interrelated health issues that are of both global significance and have a disproportionate impact on Indiana residents—diabetes, metabolic disease and poor nutrition, and related health data science and analytics. Our motto is Discovery With Purpose, reflecting our commitment to the translation of scientific discovery into improved outcomes.

About DHPS Foundation

Founded in 2018, the mission of DHPS Foundation is to help identify and assist individuals with rare genetic disorders, and to work with interested researchers to develop treatment options and cures for those disorders. The Foundation’s initial focus is on increasing awareness and understanding of patients with DHPS deficiency and evaluating potential treatments to address this disease.

Mark Craft Indiana Biosciences Research Institute (IBRI) 317-983-3313