IBRI Project Leads to Disease Discovery

Posted: Updated:
INDIANAPOLIS -

A collaborative research project involving the Indiana Biosciences Research Institute has led to the discovery of a new disease. The IBRI says the monogenic disease, known as DHPS Deficiency, can lead to neurodevelopmental delay and seizures.

The study was led by IBRI and the Columbia University Vagelos College of Physicians and Surgeons, and identified the first human mutations of deoxyhypusine synthase, or DHPS, gene. DHPS is an enzyme that is critical for the production of an amino acid called hypusine, which works in cells to create protein and is essential for life, according to the IBRI.

The study began in mid-2017 and found the DHPS mutation in five people, mostly children. The study was published this month in the American Journal of Human Genetics

"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 Teresa Mastracci, who leads the Regenerative Medicine and Metabolic Biology group in the IBRI Diabetes Center.

The research team also included scientists and medical professionals from the 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).

  • Perspectives

    • World Refugee Day Shines Light on Untapped Pool of Talented Workers

      From Fortune 500 companies to local small businesses, a similar theme rings true. In this strong economy where unemployment is low and growth is high, companies are competing for top talent. In Indianapolis - according to the U.S. Bureau of Labor and Statistics - unemployment is just 2.8 percent, and investment and job growth are on the rise. This is great news for Indianapolis-area residents looking for work or opportunities to advance their careers, but for businesses and...
    More

Subscribe

Name:
Company Name:
Email:
Confirm Email:
HTML
INside Edge
Morning Briefing
BigWigs & New Gigs
Life Sciences Indiana
Indiana Connections
INPower
Subscribe
Unsubscribe

Events



  • Most Popular Stories

    • Lilly Exec Named BioCrossroads CEO

      After a national search, BioCrossroads has announced Patty Martin will become the life science initiative's next president and chief executive officer. Martin, who most recently served as chief operating officer for Lilly Diabetes, will begin her new role Monday. She will become just the third CEO in the organization's 17-year history, and succeeds David Johnson, who in December announced plans to step down from the role to serve as president and CEO of the...

    • Mahan Named Community Health Network Executive Director

      Former Indiana State Representative Kevin Mahan has accepted the position of executive director, security and safety preparedness for Community Health Network. Mahan will be responsible for the strategic vision and day-to-day operations of the Network’s security services, disaster planning, emergency preparedness efforts, and network valet services. 

    • Holcomb will chair the 2019 conference, set for November 7 in Indianapolis.

      Janet Holcomb to Chair Conference For Women

      Indiana First Lady Janet Holcomb will serve as chair for this year's Indiana Conference for Women. Nearly 2,000 people are expected to attend the ninth annual conference, in Indianapolis in November. Holcomb's career includes a stint as vice president of her family's bolt and fastener manufacturing business, R&R Engineering. She has also led fundraising efforts for political campaigns as well as nonprofit organizations focusing in areas including animal welfare, arts and...

    • (file photo courtesy of Radial)

      Radial Opens Fulfillment Center in Brownsburg

      Pennsylvania-based Radial Inc. says its new fulfillment center in Brownsburg is now open. The e-commerce technology and operations company says the nearly 700,000-square-foot facility is the largest in its network and will have the capacity to house about 2,000 employees.

    • (rendering courtesy of Jones Development Co.)

      New Business Park Planned for Whiteland

      Missouri-based Jones Development Co. has begun construction on a new business park in Johnson County. The 2.4 million-square-foot Whiteland Exchange will be located on 167 acres near I-65 in Whiteland.  Financial terms of the developer's investment in the project were not disclosed. The business park is slated to include modern industrial buildings for logistics, advanced manufacturing and related uses. Work is underway on the first two speculative buildings, which total nearly...