Oxford-Harrington Rare Disease Centre featured on BBC Radio 4

April 09, 2024

Professor Matthew Wood, Director and Chief Scientific Officer of the Oxford-Harrington Centre for Rare Disease

Mila's Legacy, a recent programme on BBC Radio 4 by journalist Natasha Loder, details how the efforts to save one child with the rare Batten disease could lead to novel pathways to deliver therapeutics for patients with rare diseases. The episode featured Professor Matthew Wood, Director and Chief Scientific Officer of the OHC, Timothy Yu from Boston Children’s Hospital, as well as Julia Vitarello, founder of Mila’s Miracle Foundation.

Listen to the programme

How many medicines can you think of created for just one person? The likelihood is none - which is why there is so much to learn from Milasen. However, its creation and the efforts behind it could build a pathway towards some of the greatest advances in genomic medicine, and a new initiative being trialled in Britain has a huge role to play in making this happen.

Worldwide, an estimated 7,000 rare diseases affect more than 400 million people. Most of these diseases are genetic and have no effective treatment. Because these conditions are so rare, new medicines for them can’t be tested on groups of patients in traditional clinical trials.

The Rare Therapies Launch Pad is bringing together efforts from Mila's Miracle Foundation, the UK medicine’s regulator, the MHRA, Genomics England and the Oxford-Harrington Rare Disease Centre at the Department of Paediatrics, and Harrington Discovery Institute at University Hospitals in a world-leading initiative to build a new streamlined regulatory pathway to allow individualised drugs to be designed and approved for use in individual patients with rare diseases.

One such case study is that of Mila Makovec, who, at the age of seven, became the first person in the world to be treated with a medicine created just for her. A bubbly young girl from Colorado, Mila suffered from a very rare genetic disorder called Batten disease, which leads to an early death in children. Mila’s mother, Julia Vitarello, resolutely sought out scientists to try to discover a way to save her daughter. After relentless efforts, one doctor, Timothy Yu from Boston Children’s Hospital, imagined a possible treatment for Mila. The challenge involved making a completely unique treatment for Mila’s specific genetic mutation, which has inspired efforts to bring hope to the millions of children globally who are in the same position.

Listen to the full BBC Sounds programme via this link.

Read more about Mila's story here.