Apr. 07, 2014
TOPIC: Medical
Posted at April 7, 2014 2:17 pm by E. Michael D. (Mike) Scott

2 Responses to The Evolution of Dedicated Centers for Rare Disease Treatment and Research

  1. Di says:

    Are there any research institutions, pharmaceutical companies or hospitals that are investigating and /or treating the inborn error of metabolism, Hyperprolinemia, from lack of the PRODH gene which prevents the body from breaking down protein, specifically the amino acid Proline in food? The consequences of increased Proline in the blood/ body are profoundly devistating yet I cannot find any information about enzmyme replacement therapy or clinical trials / research being done anywhere. Thank you for help.

  2. Katie says:

    Thank you for this post! As a soon-to-be genetic counselor, I work with individuals and families daily that have rare diseases and disorders. Knowing that I will have to inform these families that there is no current treatment, is my least favorite part of the job. All many of these families need is hope for the future, and that is what your list provides. Just like you said, of course we would like this process to move faster and find effective, cost-effective treatments for all rare disorders, but as a science community, we are moving in the right direction. I will keep this list of centers with me and continue to check in on this blog to help stay current on trials and research centers that patients can become involved in.

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