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Wednesday, July 26, 2017

Dying sister saved specially conceived younger brother

For the first time in Russia there was a unique case: the younger brother saved her sister with a very rare fatal genetic disease. Brother for girls with the syndrome of Shwachman-diamond parents conceived purpose, and with the help of science — choosing the healthy embryo on the outcome of preimplantation diagnosis. Growing child became the Savior for sister, sharing her own healthy stem cells.

photo: pixabay.com

As told “MK” in the Institute of human stem cells, six-year-old girl with the syndrome of Shwachman-diamond from St. Petersburg became the first Russian patient, who successfully conducted such high-tech treatment. It took place in several stages. The latter was the transplantation of cord blood cells and bone marrow from her brother, the child-Saviour,born using preimplantation genetic diagnosis (PGD) and IVF. The boy was genetically identical tissue compatibility with the sister, but the deadly disease is not inherited.

It is a very severe genetic disease, characterized by skeletal disorders, predisposition to leukemia, a violation of hematopoiesis, the immune system and pancreatic function. And the only thing that can help these patients is stem cell transplantation of bone marrow or cord blood from a compatible donor. The only trouble is that for the vast majority of patients with syndrome Shwachman-diamond compatible donor simply does not exist.

Girl with syndrome Shwachman-diamond was born in 2009. The family she was the second child. The first child died of symptoms similar to the same hereditary disease, but doctors have not carried out a genetic diagnosis and the diagnosis has not been established. At the age of six months the child was in serious condition in the hospital — that’s when the real truth came out about her present diagnosis. Doctors told the family about the only possible way of treatment, however, a suitable donor for the child, alas, was not. There was nothing to do the doctors decided on a risky move doing the child a bone marrow transplant from his father, which is compatible with the girl only 50%. Unfortunately, the operation went wrong and ended with rejection of the graft. But the girl survived.

Her parents really wanted another child, but knew he could be as terminally ill. And doctors strongly recommend them in the future to have children: he said that the syndrome will be passed to all subsequent generations.

But science came to the rescue. With 2011 in our country there program implementation in the Russian health care a new method for the treatment and prevention of rare hereditary diseases using technologies like IVF, PGD and cell transplantation, umbilical cord blood (Program Adam Nash). The programme HSCI scientists together with colleagues from the genetics laboratory organized preimplantation genetic diagnosis for 10 families, including families of girls with the syndrome of Shwachman-diamond. For treatment by the Russian scientists together with colleagues from the Reproductive Genetics Institute (Chicago) has developed personalized test system with which to investigate the genetic mutations in a single cell.

Parents of girls with the syndrome of Shwachman-diamond had to have another child through IVF. In the course of conducting the artificial insemination the embryologist had a biopsy of cells obtained from each embryo, and genetics have researched all of the embryos in the laboratory. Further, in a genetics lab researching all embryos. Sorted them into “sick” embryos and embryos free from serious diseases and denisovskyi with a sick little girl. In the end, the mother is implanted not only healthy embryos, but also one that is fully compatible with her daughter. It was planned that the unborn child is the Savior will be collected stem cells from umbilical cord blood for subsequent transplantation to the sister. All the steps were successful, and in 2014, he was born a healthy boy. It is fully compatible umbilical cord blood was collected at birth and stored in genebank.

In may 2016 the specialists of the research Institute. Gorbachev held the girl a transplant using cord blood and hematopoietic cells in the bone marrow of his younger brother. The transplant went well, the cells brother has taken root and today she feels well.

– Transplantation is the first in Russia case of the use of preimplantation genetic diagnosis for the treatment of syndrome Shwachman-diamond. All the world knows about the number of successful transplants of hematopoietic stem cells from a genetically compatible siblings born through PGD. For the first time in the world this method was introduced in the United States, a group of scientists under the leadership of Yuri Berlinskogo, our compatriot. The method used in the U.S. and Europe for the treatment of diseases such as Fanconi anemia, thalassemia, leukemia, Krabbe disease, syndrome Omena, the syndrome diamond-Blackfan. In the coming months on this large-scale work of researchers is expected to yield scientific publications, – the Director of HSCI Artur Isaev.

Almost all the stages of the methods of treatment alone are used in the practice of Russian health care: the umbilical cord blood collection and transplantation of umbilical cord blood and bone marrow, ECHO. And they are funded by the state if indicated. In addition to the key studies for such treatment, of PGD. PGD is a personalized genetic test and development of test systems for each mutation according to the genetic characteristics of the family. The development of such test prior to conducting the survey on average takes about 3 months.

“I think now, and a new method, and PGD will be included in the standards of care as one of the options of treatment of some hereditary diseases and will be available to hundreds of families,” says Artur Isaev.


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