Our areas of focus
We fund research to
- Develop new therapies to treat classical homocystinuria and remethylation disorders by exploring novel mechanisms to obtain proof of concept to enable progression to clinical trials
- Advance newborn screening, specifically technologies to improve the early detection of classical homocystinuria and remethylation disorders, particularly via primary markers for newborn screening
We are research ready!
We are on an urgent mission to better newborn screening, understand disease manifestation and help drive better therapies for those affected by homocysteine-related disorders. Our team works rapidly to care for those diagnosed with the homocystinurias and to accelerate vital research.
Currently, there is one FDA-approved treatment across all homocystinurias and no cure for homocysteine-related disorders. The one treatment does reduce homocysteine levels, but in many cases, it's not enough on its own. The other therapies utilized are expensive and onerous, and still leave patients at risk for developing symptoms. The goal of our research is to better understand the disease manifestations, find treatment, and ultimately a cure!
HCU Network America is the only group in the US focused specifically on homocysteine-related disorders and funding critical research. Our path to better treatment is clear and we must act fast, as those left undiagnosed or untreated are at risk. We need your help.
The road to rare disease treatment and research is not often a straight path.
This roadmap is designed to put you in the driver's seat and in control of how to move your research forward. Whether you are an individual, advocate, or organization, this roadmap was created to help you better understand some of the potential routes to treatment and some of the key concepts that are part of these processes.
There are three ways you can use this resource:
- Follow the map to help understand the overall journey
- Access the additional information that is connected for an in-depth look at the options available to you and stories from those who have blazed a trail
- Stop in at the School of Rare Research for great resources that can fill in any background information you need to know
Get your copy at: https://globalgenes.org/event/rare-disease-drug-development/