A unique operation was performed in Russia for the first time
The child-savior saved his sister from a deadly hereditary disease
The Human Stem Cell Institute (HSCI) reports on the first patient in Russia who has successfully passed all stages of treatment of a genetic disease with a new high-tech method. Doctors reported that the last stage of treatment – transplantation of umbilical cord blood and bone marrow cells to a six-year–old patient from St. Petersburg - was successful. A girl with Schwachman-Diamond syndrome was transplanted stem cells from her brother, a savior child born with the help of preimplantation genetic diagnosis (PGD) and IVF. The brother was born genetically identical in tissue compatibility and did not inherit a genetic disease.
The organizer of this unique project and the developer of the treatment method is the Human Stem Cell Institute. Since 2011, the HSCC has united several research teams and clinical groups to introduce a new method of treatment in Russia: Hemabank – cord blood Bank, the Russian Genetico Center, as well as the Institute of Reproductive Genetics (Chicago), the R.M. Gorbacheva Research Institute, Genesis Clinic, Maternity Hospital No. 17 of St. Petersburg.
Schwachman-Diamond syndrome is a severe genetic disease that manifests itself with skeletal disorders, predisposition to leukemia, impaired 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, for the majority of patients with Schwachman-Diamond syndrome, it is not possible to find a compatible donor.
A girl with Schwachman-Diamond syndrome was born in 2009. She was the second child in the family. The first child died from symptoms similar to the same hereditary disease, but doctors did not carry out a genetic diagnosis and the diagnosis was not established. At the age of 6 months, the girl 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 might also inherit the Schwachman-Diamond syndrome. According to the parents, the doctors recommended that they no longer have children and said that all the children would be sick. Specialists of the Institute of Human Stem Cells came to the family's aid.
In 2011, the Hemabank Stem Cell Bank, established by the HSC in 2003, announced funding for a program to introduce a new method of treatment and prevention of rare hereditary diseases into Russian healthcare using IVF, PGD and umbilical cord blood cell transplantation technologies (Adam Nash Program). To this end, the ISC opened the Genetico Center in Moscow with a unique genetic laboratory. As part of the program, the HSCC, together with the Genetico laboratory, organized a preimplantation genetic diagnosis procedure unique for Russia for 10 families, including the family of a girl with Shvakhman-Diamond syndrome. To carry out the treatment, in the interests of each of the families, the specialists of the Center for Genetics and the Institute of Reproductive Genetics (Chicago) have developed unique personalized test systems with which you can study genetic mutations in a single cell.
For the family of a girl with Schwachman-Diamond syndrome, during IVF at the Genesis clinic, embryologists performed a biopsy of single cells of each of the embryos obtained (on the 3-5 day of development at the stage of 8-50 cells). Usually, during the IVF procedure, from 1 to 20 eggs are obtained and fertilized. Then, in the laboratory, geneticists examined all the embryos. "Sick" embryos and embryos free from severe disease, as well as tissue-compatible with the sick girl were identified. The mother was implanted with an embryo free from severe disease and tissue-compatible with the girl. It was planned that umbilical cord blood stem cells would be collected from the born savior child for subsequent transplantation to his sister. All stages were successful, and 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.
The performed transplantation is the first case in Russia of using preimplantation genetic diagnostics for the treatment of Schwachman-Diamond syndrome. In total, the world knows about several dozen successful transplantations of hematopoietic stem cells from genetically compatible brothers and sisters born with the help of PGD. For the first time in the world, such a method was introduced in the USA by a group of scientists led by Yuri Verlinsky, our compatriot. 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.
Almost all stages of this treatment technique are already used separately in the practice of Russian healthcare: cord blood collection, cord blood and bone marrow transplantation, IVF. And they are funded by the state with appropriate indications. In addition to the key study for such treatment – PGD.
PGD is a personalized genetic research and development of test systems that are developed for each individual mutation in accordance with the genetic characteristics of the family. The Genetico Center spends about 3 months to develop such a test before conducting a study. All the tests under the Adam Nash program and the organization of treatment were funded by the HSC with its own funds. Part of the IVF services were provided at the expense of the Genesis clinic, transplantation and the rest of the treatment were provided at the expense of the Ministry of Health and the Advita and Rusfond charitable foundations.
In the coming months, a scientific publication is expected to be published on this large-scale work of researchers.
Artur Isaev, director of the Institute of Human Stem Cells, comments: "For knowledgeable specialists, this method does not look so difficult, but we have spent a lot of effort on its implementation in Russia for 6 years, we have worked long and patiently waiting for the result. I believe now that this method and PGD will be included by the Ministry of Health in the treatment standards as one of the options for the treatment of a number of hereditary diseases and will be available to hundreds of families. On behalf of the company, I would like to thank all colleagues from the HSC group, as well as transplantologists, reproductologists, geneticists, our colleagues from Chicago for the work done and perseverance in achieving the goals set."
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03.10.2016