Bagri family philanthropy enables UCL study into rare childhood neurological condition

DHPR deficiency is an ultra-rare neurological condition caused by changes to a gene known as QDPR, leading to insufficient levels of dopamine and serotonin which are vital for brain development and function. 

In early infancy it is characterised by low muscle tone, developmental delay, movement disorders, feeding problems, sleep disturbance, and seizures. Clinical management relies on a restrictive lifelong low protein diet alongside medication.

While this approach improves some biochemical measures, a UCL initiative (Preclinical Evaluation of Precision Gene Editing Approaches for Dihydropteridine Reductase Deficiency – to be known as the Bagri CURE-DHPR Study) will seek to provide a basis for treatments to address the underlying cause.

Based on two known disease-causing variants in QDPR, Principal Investigator Professor Manju Kurian (UCL Great Ormond Street Institute of Child Health) and her team plan to develop and test precise gene-editing strategies with the potential to restore meaningful enzyme activity.

The work championed by the Bagri family will focus on robust disease models and high-quality data for clinical application and utilise the joint research and clinical infrastructure of UCL, including the Zayed Centre for Research in the Institute of Child Health and the UCL School of Pharmacy.

“Today, children born with DHPR deficiency are sadly likely to experience long term neurological complications,” said Prof Kurian. “With the Bagri family, we share the ambition to change that. We are hugely grateful for their vital support in our joint mission to establish whether precise correction of relevant gene variants is the key to changing the course of this disease.”

“This act of philanthropy is symbolic of what we can do in partnership with far-sighted partners in our Here, it will happen campaign,” said Dr Michael Spence (UCL President & Provost). “Together, UCL and the Bagri family are building the science behind what would be the first disease-altering treatment for a condition which affects people at the earliest stage of life.”

“For families affected by rare disease, progress can never come quickly enough,” said donor Amisha Bagri. “We are proud to partner with UCL in advancing rigorous preclinical research into DHPR deficiency. This work is an important step in building the scientific foundations needed to better understand the condition, explore future treatment possibilities, and contribute to knowledge that may benefit the wider rare disease community.”

The Bagri family’s support is informed by lived experience and aims to shine a spotlight on rare diseases and the importance of investing in research that can translate into improved patient outcomes. It reflects a wider commitment to moving science forward in areas where greater focus, visibility and investment are urgently needed.

UCL is at the forefront of translating discovery into diagnostics and treatments for people living with neurological diseases. As part of the Here, it will happen campaign, the institution is partnering with world-leading philanthropists to solve global health, societal, climate and education challenges.

About Bagri Family Philanthropy

The Bagri family’s private philanthropy is individual giving, reflecting a deep commitment to the people, institutions and causes they support. Guided by curiosity and belief in excellence, they approach philanthropy with passion, personal engagement, and a long-term perspective.  

The family’s wider philanthropic work also includes support through the Bagri Foundation, across arts and culture, healthcare, education and relief work.

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UCL Great Ormond Street Institute of Child Health
UCL School of Pharmacy
UCL Giving
Bagri Family Private Philanthropy

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Scientist examining DNA autoradiogram. Via Getty Images (credit: westend61)