Over this past week, the Harrington Discovery Institute announced five recipients of its introductory Harrington UK Rare Disease Scholar Award competition. The Institute, which is involved with Cleveland’s University Hospitals, describes itself as:

an international initiative that helps translate scientific discoveries into medicines that benefit society. Our programs address a range of disease areas and therapeutic needs, with an emphasis on unmet needs.

What began in 2012 has worked to address unmet needs for patients with rare diseases. Did you know that only 5% of rare diseases have approved therapy options? So, in conjunction with the Morgan Stanley Global Impact Funding Trust (GIFT) Cures, and the Harrington Discovery Institute’s charitable Fund for Cures UK, the Harrington UK Rare Disease Scholar Award competition was born. Ultimately, the competition was designed to grant funding to those making waves in rare disease research, treatment, and diagnoses.

Harrington UK Rare Disease Scholar Award Recipients

Altogether, over 50 people applied to the competition, which began this past January. The program asked for researchers and doctors to submit research proposals relating to rare diseases, drug discovery and development, and other patient needs. All recipients will maintain the rights to their intellectual property. Harrington Discovery Institute will only assist recipients with marketing, research, and development.

The recipients for the award are as followed. They are also listed with their associated organizations and research focuses:

• Dr. Helen Waller-Evans, DPhil, from Cardiff University
  • Dr. Waller-Evans is interested in understanding lysosomal storage disorders (LSDs), such as Fabry disease or Gaucher disease. These conditions often cause progressive organ damage, impeding function. Through her research, Dr. Waller-Evans hopes to determine what type of novel inhibitors can be used to address and treat LSDs, as well as halt organ damage.
  • In her description on her Cardiff University page, Dr. Waller-Evans explains: “I have a particular interest in developing therapies that act on lysosomal proteins for use in psychiatric and neurological diseases.”
• Dr. Pietro Fratta, MD, PhD, from the University College London
  • Dr. Fratta’s focus in understanding how gene therapy might be efficacious for treating patients with Kennedy disease. This rare neuromuscular disorder causes proximal and bulbar muscle deterioration. Learn more about Kennedy disease.
• Dr. Angela Russell, DPhil, from the University of Oxford
  • Duchenne muscular dystrophy (DMD) is one of nine forms of muscular dystrophy. Patients with DMD are unable to make dystrophin in their muscles. There is no cure for DMD. However, there are drugs designed to reduce symptoms, such as steroids, supplements, and amino acids. In Dr. Russell’s research, she hopes to find additional drugs that might be used for the treatment of DMD.
• Dr. Haiyan Zhou, MD, PhD, from the University College London
  • Dr. Zhou’s research centers around SPTLC1-related hereditary sensory neuropathy. This condition often causes “shooting” or “lightning” pains, or feelings of numbness. SPTLC1 gene mutations may cause painful or painless neuropathy. In Dr. Zhou’s research, he hopes to uncover new therapies to treat patients with painful neuropathy.
• Dr. Wyatt Yue, PhD, from the University of Oxford
  • Finally, Dr. Yue’s research looks at primary hyperoxaluria, a rare disorder that affects the kidneys. Caused by AGXT gene mutations, primary hyperoxaluria causes oxalate accumulation, blocking the kidneys and bladder. In his research, Dr. Yue will explore potential inhibitors to prevent this accumulation.