The usual treatment for people with Dyskeratosis Congenita is a bone marrow transplant from an unaffected family member or from unrelated donor. But in the past, the chemotherapy needed to facilitate engraftment of donor blood forming cells frequently made patients with Dyskeratosis Congenita very sick. Historically, a high number of them have not been able to live through the bone marrow transplant. We designed a chemotherapy treatment specific to organ sensitivities of the patients with Dyskeratosis Congenita to improve the outcomes of the transplant. Ten patients have been treated to date. We were able to show that most children and adults prepared for bone marrow transplantation in this novel way were able to replace the faulty blood and immune systems with the healthy ones from the donor.
Dyskeratosis Congenita is a rare, congenital disorder that has major consequences on bone marrow function, in addition to multiple other impacts on skin, nails, and mucosa and predisposes affected individuals to cancer. The exact pathology of the disease is not fully understood, but it appears to be primarily a disorder of poor chromosome maintenance, specifically the ends of the chromosomes. Chromosomes contain DNA, the genetic instructions used to construct other components of cells, such as proteins.
The most common form of Dyskeratosis Congenita is caused by errors in a protein, termed dyskerin, which helps protect the ends of chromosomes (called telomeres) from shortening. Dyskerin protects the telomeres during cell division, in much the same way as plastic tips on shoelaces prevent the lace from fraying.
Without functional dyskerin, each time a cell divides its chromosome ends get a little shorter. Eventually the critical genetic information in the chromosome is exposed resulting in life-threatening consequences, such as anemia (not enough red blood cells), severe decreases of infection fighting cells (white blood cells) and low numbers of blood clotting elements (platelets). Patients with Dyskeratosis Congenita may appear to be prematurely aging and have a shortened lifespan.
Additional information on Dyskeratosis Congenita can be found on the National Cancer Institute website: http://www.marrowfailure.cancer.gov/DC.html and on the website for National Organization of Rare Diseases (NORD): http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dyskeratosis%20Congenita .