H63D Syndrome Research Consortium
The International H63D Syndrome Research Consortium is a network of more than 35 scientists representing twelve nations. It is a non-profit and financially independent organization for research into all types of iron storage diseases.
1 History
The consortium was founded in 2019 in response to the irritation of Asian scientists, in particular that their studies and research findings were ignored in Western Europe and North America. As a result, the H63D Syndrome Research Consortium was founded through which the scientists can address the public directly. Modern communication tools such as "social media" are used intensively.
2 Research & Awareness
Research is primarily done on the HFE mutation in gene H63D, since this location is not focussed on Europe and North America as C282Y is. What is more, it can rarely trigger hemochromatosis but more frequently the H63D syndrome (NTBI iron poisoning) which is in the need of awareness within the medical community. However, the work of the consortium is not limited to this mutation. The common variant C282Y and many others are also the subject of the consortium's research. Another main task is to raise awareness for the more rare iron storage disorders and the dangers of non-transferrin-bound-iron (NTBI iron).
At present, the following experts are members of the consortium:
- Dr. Marianne Kaufmann
- Manuel H.G. Ronquillo, MD
- Dr. Sven Sørensen
- A.K. Tripathi, PhD
- Avi Feldman, PhD
- Dr. I. Slotki, M.Sc.
- Jacob S. Adams, PhD
- A.M Gardeck, MD
- Riku Honda, PhD
- Dr. Anastasios Papadopoulos
- Dr. Moshgan Mohammadi
- Dr. Boris Dimitrov
- Dr. Ali Akbar Hosseini
- Dr. Yashida Akko
- Silas E. Frank, M.Sc.
- John M. Smith, PhD
- Dipl.-Biol. Thomas Berg
- and many more
3 Links
- Consensus Paper 2019
- Iron Disorders Institute, 2010
- The consortium’s social media page
- m.me/IronDisordersResearch (Contact for laypeople)
- h63d@groupmail.com (Contact for physicians and scientists only)
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