Remethylation Disorders Research Strategy

Remethylation Disorders Research Strategy

HCU Network America’s Research Strategy for Homocystinuria due to remethylation defects includes overall principles and criteria to guide the prioritization of research opportunities and identify specific areas of focus.

Our Research Strategy aims to:

  • Define key priorities for future research for Remethylation Disorders (CblC, D, E, F, G, J, K, and Severe MTHFR); and
  • Guide prioritization and evaluation of research grants funded by Cobalamin and Severe MTHFR HCU Patient Community Groups.

Key Focus Areas

Several areas of unmet need in the diagnoses and management of Remethylation Disorders have been identified through advice from academic researchers and clinical experts. We have defined 4 key priority focus areas for future research and patient advocacy:

4-Brittany - Conference Presentation -Research Strategy - cropped

We expect our near-term Research Strategy and grants program to focus primarily on the advancement of new treatment modalities, in order to maximize the benefit to patients and improve long-term outcomes/disease manifestations.. We will use 3 guiding criteria for the prioritization and evaluation of research grants.

  • Potential risk/benefit of approach to improve patient care
  • Probability research in this area would move forward without funding from HCU Network Australia and HCU Network America (HCUNAs). Lower priority is placed on an area if industry funding is available.
  • Probability funding a project in this area would contribute significantly to progressing research in this area, including potentially attaining proof of concept to motivate industry funding. 

We would encourage patient groups from other countries to contact us if they are able to help fund research studies.