Ongoing Research

University College London (UCL), UK
Professor Nick Greene and team

The scientists at UCL are currently working on understanding the development of NKH and to develop novel therapies, such as
gene therapy for NKH. They are currently using mice and cell models and are exploring a number of experimental areas.

You can find out more about their work here.

The University of Colorado, USA
Dr Johan van Hove and team

The Colorado research team focuses on understanding the biochemistry of NKH, building a clinical study of children with NKH and exploring effective therapies for NKH.

You can read more, here.

Dr Van Hove has been working in the field of NKH for over 30years, and his initial research papers have formed the foundationof the research practiced today.

The Boler-Parseghian Center for Rare & Neglected Diseases and the University of Notre Dame, USA

The Notre Dame research team focuses on finding effective therapies for NKH; as well as collating a natural history of the disease (understanding how NKH progresses).

You can learn more about their research, here.

The Mikaere Foundation shares recent research updates, at:
mikaerefoundation.org/research-updates

Getting involved with Research

There are a few ways you can support ongoing research into NKH:

• Fundraising: each of the research teams benefit from funding raised by families within the NKH community. This funding is essential for their functioning and continuing research into NKH. Any fundraising you can do will support future prospects for patients with NKH.
  
  
• Natural History studies: you can support by filling in surveys that contribute to research into NKH. These are sometimes available via
  charities, research teams or NKH organisations.
  
  
• Donation of skin samples: The UCL team is collecting skin samples; and the Notre Dame team is also collecting skin and blood samples. You can contact them directly: UCL: n.greene@ucl.ac.uk | Notre Dame: bcalhoun@nd.edu
  
  
• Embryo donation: if you undergo IVF and an embryo is shown to be affected by NKH, you can donate the embryos to the UCL team. Email: n.greene@ucl.ac.uk
  
  
• Brain and tissue bank: if a child with NKH dies, you can choose to donate their brain and tissue to the University of Maryland. There
  is more information available on that at medschool.umaryland.edu