Christian Lantz
DPhil Candidate in Biomedical Sciences, NIH-Oxford
Sophie, Jordan and Cooper New
Global collaborations are needed to meet the challenges of rare disease and to drive progress in scientific research towards delivering therapies for people living with rare diseases.
Individuals with rare diseases and their families typically have a long journey to a diagnosis with little hope for a cure. The Oxford-Harrington Rare Disease Centre, a partnership between the University of Oxford and Harrington Discovery Institute, brings together the resources and capabilities needed to accelerate novel treatments for patients living with a rare disease.
Individually rare, collectively common
There are 400 million people across the globe living with a rare disease, affecting 1 in 17 people during their lifetime. Although individual rare diseases are rare, collectively they represent about one-third of human diseases. Fewer than 5% of rare diseases have approved treatments.
The Oxford-Harrington Rare Disease Centre (OHC) was established to accelerate treatments and cures. Its work supports the drug development life cycle from early drug discovery to preclinical studies, clinical development, regulatory approval and ultimately through to commercialisation.
“This affiliation represents a commitment to patients first and a tremendous opportunity to improve the health and outcomes of those living with a rare disease,” says Jonathan S. Stamler, MD, President of Harrington Discovery Institute.
Finding hope and community
Sophie and Jordan New learned through genetic testing that their young son, Cooper, has FBXO11, an intellectual developmental disorder. This ultra-rare disease occurs in less than one in a million people.
Cooper’s parents, and grandparents Rusty and Liz Cooper, set out to learn as much as possible about FBXO11 and any potential treatments. Rusty, a financial advisor at Morgan Stanley, learned about Harrington Discovery Institute at University Hospitals in Cleveland, Ohio through Morgan Stanley GIFT Cures℠ powered by Harrington Discovery Institute. This programme provides opportunities for philanthropists to combine their resources to magnify the impact of their medically related giving, whether on a specific disease or across a broader spectrum.
“For the first time in Cooper’s life, someone understood our son. Not only did they understand our medical mystery, but they also provided us with the most impactful gift we could’ve imagined, hope. Harrington turned on the lights in our blacked-out world,” says Jordan New.
Although individual rare diseases are rare, collectively they represent about one-third of human diseases.
From diagnosis to doctorate
Christian Lantz was diagnosed at age eight with the rare neuromuscular disease, limb-girdle muscular dystrophy. His diagnosis inspired his interest in science and the ambitious decision to pursue a doctorate in neuromuscular disease research.
Lantz, now a doctoral student in the National Institutes of Health (NIH) Oxford-Cambridge Scholars Program, researches a group of rare diseases originating from mitochondria, causing amyotrophic lateral sclerosis (ALS), a form of dementia, and a form of spinal muscular atrophy (SMA). He is mentored by the OHC Director, Professor Matthew Wood, at the University of Oxford.
His project links the immense resources of the NIH and National Center for Advancing Translational Sciences (NCATS) in the US with disease-specific expertise and UK institutions with a shared mission. These invaluable projects create the global networks that will bring together the funders, researchers, drug development experts, foundations and regulatory bodies that will drive rare disease drug delivery.
“I feel very fortunate to be involved in rare disease research having experienced living with a rare disease. The rate of advancements in gene therapy and research gives me hope that many more rare diseases will be addressed with treatment options in the future,” says Lantz.
Help us cure rare diseases
We invite you to join us in supporting the OHC and its mission to advance cures for rare diseases. Your support will help us to continue to fund drug discovery and development and provide the resources needed to advance promising scientific breakthroughs into treatments for patients. Together, we can make a difference in the lives of those living with rare diseases and their families.
