Medullary Kidney Disease
Mucin-1 Kidney Disease Research
How does MKD being a
rare disease affect research to find a treatment?
In common diseases, there are usually many families that
suffer from the disease. It is not hard
to find families to study. For example,
a researcher will find families right near his medical center to study. Some families may be busy and not feel
ready to do research. This is usually
not a problem because there are so many families that can participate. Research findings will benefit many different
families. The government gives a lot of
funding for these diseases, so there are many scientists interested in them.
In rare diseases, it is quite the opposite. There are very few families that have a
disease. Therefore, doctors studying the
disease cannot find families near their medical center to study. Instead, they must work with families from
all over the world. This involves a lot
of cooperation between individuals and doctors.
Since there are so few families, the participation of
each family is very important. The more
families we have, the more we can learn about the disease and factors that make
it better or worse. This is ideal for
studying diseases from which many people suffer. For rare diseases, even a single family can
provide an incredible amount of information.
There are also many fewer doctors studying each rare
disease. This is because funding is
limited, and most doctors are interested in more common diseases.
Another important factor to consider is that for many
diseases, research will help others greatly.
For example, a patient taking part in a diabetes study will have little
benefit compared to the many diabetic individuals throughout the world who
could benefit from a diabetes study.
However, with rare diseases, the studies are most likely to benefit
those who participate and their families, since the disease is so rare.
For these reasons, the partnership between affected families
and the doctors and scientists studying the disease are incredibly
important. This research will only be
successful if doctors, scientists, and patient families all work together.
What can I do to help
If you have MKD or think you may have it, it would be
helpful to enter a registry of individuals with this disease. Providing blood and urine samples for
different studies is most helpful.
Contact Dr. Anthony Bleyer at email@example.com
if you are interested.
addition, if you have had biopsies of any organs, or any tissue removed, we
would like to contact the hospital where this was done and obtain a sample. This will help us to see how the abnormal
protein is deposited in different tissues in the body.
How does laboratory research on MUC1 and MKD clinical research work together?
- Provide education for patients, doctors and scientists about MKD. If doctors do not know about the disease, they cannot perform research. If patients can not look up research and information on the internet, they cannot find resources for support.
- A registry can be created of families that doctors and scientists can use for testing hypotheses in the laboratory and test potential MKD1 treatments.
How can I be involved in MKD research?
Participating in research, as well as adding yourself and family
to the MKD registry will likely be helpful to your family and all
families suffering from MKD.
We encourage any and all questions regarding MUC1 and
MKD research. Please contact Dr. Anthony Bleyer at firstname.lastname@example.org
or (336)716-4513. We will answer your questions
promptly. If interested, we will contact you about current
and future MKD studies that apply to your family's history.
We are also excited to be working with the Uromodulin Kidney Disease
Foundation which provides support for families, doctors and
researchers. For more information, visit: ukdcure.org
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Bleyer AJ, Kmoch S. Medullary Cystic Kidney Disease Type 1. GeneReviews® [Internet]. Initial posting: August 15, 2013.
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, Defelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar;45(3):299-303.