Medullary Kidney Disease

Medullary Kidney Disease 1 Research

How does MKD1 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 the research?

If you have MKD1 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 kidney@wakehealth.edu if you are interested. 

In 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 MKD1 clinical research work together?

  • Provide education for patients, doctors and scientists about MKD1. 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 MKD1 research?

Participating in research, as well as adding yourself and family to the MKD1 registry will likely be helpful to your family and all families suffering from MKD1. 

We encourage any and all questions regarding MUC1 and MKD1 research.   Please contact Dr. Anthony Bleyer at kidney@wakehealth.edu  or (336)716-4513.  We will answer your questions promptly.  If interested, we will contact you about current and future MKD1 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

Recent Publications

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Zivná M, Hart TC, Hart PS.  Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cysitc Kidney Disease Type 1.  Clin J Am Soc Nephrol.  2014 Mar;9(3):527-35.

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.

Last Updated: 04-07-2014
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