Cord blood against hereditary disease
An article by Russian scientists on the treatment of a hereditary disease with the help of umbilical cord blood has been published in Nature
The journal of the publishing house Nature (Bone Marrow Transplantation) published an article by Russian scientists about the world's first patient who successfully passed all stages of treatment of a genetic disease with a new high-tech method using umbilical cord blood.
A girl with Schwachman-Diamond syndrome was transplanted stem cells from her brother, a savior child born with the help of IVF and preimplantation genetic diagnosis (PGD). Thanks to PGD, the brother did not inherit a genetic disease and was born genetically identical to his sister in tissue compatibility.
The organizer of the unique project and the developer of the treatment method is the Human Stem Cell Institute (HSCI). To implement the new method, the HSCC united several research teams and clinical groups around itself: Hemabank – Umbilical Cord Blood Bank, the Genetico Center, the Institute of Reproductive Genetics (Chicago), the R.M. Gorbacheva Research Institute, the Genesis Clinic, the St. Petersburg Maternity Hospital No. 17.
The performed transplantation is the world's first case of using preimplantation genetic diagnosis for the treatment of Schwachman-Diamond syndrome. In total, we know about several dozen successful cord blood transplants, from genetically compatible brothers and sisters born with PGD, for the treatment of other diseases. For the first time in the world, such a method was introduced in the USA by a group of scientists led by our compatriot Yuri Verlinsky. The method has been used in the USA, Europe for the treatment of diseases such as Fanconi anemia, thalassemia, leukemia, Crabbe disease, Oumen syndrome, Diamond-Blackfan syndrome. And now for the treatment of Schwachman-Diamond syndrome.
According to Artur Isaev, director of the ISHR: "the results of our long-term work have been published in an authoritative journal, which once again confirms the importance of a new treatment method developed by Russian specialists. The work has been reviewed by one of the leading scientific publishers, and we hope that the new treatment method will be able to be used and applied in other clinics around the world, and it will be introduced into wide practice."
Schwachman-Diamond syndrome is a severe genetic disease. It is manifested by skeletal disorders, predisposition to leukemia, violation of hematopoiesis, immune system and pancreatic function. The only effective method of treatment is transplantation of bone marrow stem cells or umbilical cord blood from a compatible donor. However, it is not possible to find a compatible donor for most patients.
A girl with Schwachman-Diamond syndrome was born in 2009. The first child in the family died from symptoms similar to the same hereditary disease, but doctors did not carry out a genetic diagnosis, did not establish a diagnosis, and the family did not receive recommendations for the prevention of the disease. The girl became the second child, and at the age of 6 months, she was hospitalized in a serious condition, where specialists diagnosed her and decided to conduct a bone marrow transplant. Due to the lack of a compatible donor, in 2010 the girl underwent transplantation using the cells of the father, compatible with the daughter by only 50%. The operation was unsuccessful and ended with rejection of the transplant, but the girl survived.
The girl's parents planned the birth of another child, but feared that he could also inherit a serious illness.
In 2011, the stem cell bank Gemabank announced the sponsorship of the introduction into Russian healthcare of a new method of treatment and prevention of rare hereditary diseases using IVF, PGD and umbilical cord blood cell transplantation (Adam Nash Program). To this end, the HSCC opened the Genetico Center in Moscow with a unique genetic laboratory with the task of integrated introduction of new technologies for the prevention and treatment of hereditary diseases. Within the framework of the program, a preimplantation genetic diagnosis procedure was organized for the family. Specialists of the Center for Genetics and the Institute of Reproductive Genetics (Chicago) have developed a personalized test system for the study of genetic mutations in a single cell. During IVF at the Genesis clinic, embryologists performed a biopsy of single cells of each of the resulting embryos (on the 3-5 day of development at the stage of 8-50 cells). Further, in the laboratory, geneticists examined and identified "sick" embryos and embryos free from severe disease, as well as tissue-compatible with a sick girl. The mother was implanted with an embryo that does not have a serious disease and is tissue-compatible with the girl. In 2014, a healthy boy was born in the family. His fully compatible umbilical cord blood was collected during childbirth and stored in a Hemabank.
In May 2016, specialists of the Gorbacheva Research Institute performed a transplant on the girl using umbilical cord blood and hematopoietic bone marrow cells of her younger brother. The transplantation was successful, the brother's cells completely took root, and today the girl feels well.
According to the attending doctors: "Hematopoietic cell transplantation makes it possible to correct one of the manifestations of the Schwachman-Diamond syndrome – bone marrow insufficiency, and prevent transformation into myelodysplastic syndrome and acute leukemia. The girl from the first month of life had the development of anemia (decrease in hemoglobin), neutropenia (decrease in the number of neutrophils), thrombocytopenia (decrease in platelets) joined from about 10 months. All this time, the child needed transfusions of blood components, special antimicrobial prophylaxis. Despite antibacterial and antifungal therapy, the girl had the development of life-threatening infectious complications. At the age of 3 months, a transformation into myelodysplastic syndrome was revealed. After transplantation of hematopoietic cells from her brother, the engraftment of donor cells was achieved, and blood cells in sufficient quantities began to be produced in the girl's body. She does not need blood transfusions, the risk of life-threatening infectious complications and transformation into leukemia has significantly decreased. However, bone marrow transplantation does not affect the functioning of the pancreas, so the little patient still needs replacement therapy with pancreatic enzymes. As well as some nutritional support, for example, additional intake of fat-soluble vitamins."
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31.03.2017