The idea and scope of activity of DNA Research Center
DNA Research Center mission is to conduct innovative research within the scope of genetics and biotechnology. Participation in scientific –research projects and services expansion enable us to implement our strategic goals. It comes from broadly understood care for quality of human life and health. The structure of the Center operates on the basis of medical ecosystem. The ecosystem enables integration of medical centers specialists and global medical genetics experts. Thanks to fully-equipped laboratories, there will be a possibility to conduct research and expand competences. In return, one will gain knowledge, experience and have access to innovative technologies.
The work carried out at the Center is closely related to a problem solution of the child's unknown future "included" in the genetic code, the problem of rare and cancerous diseases. They are based on mutations of certain genes and the theory of relationship between the genetic code and eating habits. Pursuing the overarching goal is followed by various initiatives. The mentioned goal is to cooperate with R&D companies in establishing remote online genetic diagnostics based on a specially developed application and automation to accelerate the diagnostic process.
A child and its future - Genetic research in couples planning pregnancy
The future parents are invariably accompanied by the fear of the planned offspring health. It goes without saying that the scientific achievements made it possible to determine a predisposition to the incidence of certain diseases, even before the embryo development, thanks to the DNA analysis. Genetic diseases pose a threat to serious physiological disorders which, in the worst cases, can prevent normal functioning of a child. The pathologies that affect human body can be divided into three groups.
- Conditioned by the inheritance of single mutated alleles (alleliopathy), including: haemophilia, cystic fibrosis, phenylketonuria, albicronuria, albinism, sickle cell anemia, Huntington's disease (HD), also known as Huntington's chorea, diseases mostly inherited in a recessive autosomal way, with the exception of haemophilia and daltonism inherited recessively through sex-linked genes.
- Conditioned by the inheritance of structural chromosomal aberrations in patients with cri du chat syndrome,
- Conditioned by the inheritance of numerical chromosomal aberrations. Among these classifications one can distinguish the following: autosomally inherited disease, Down Syndrome and two heterosomically inherited diseases, Turner syndrome and Klinefelter syndrome.
Genetic testing done before pregnancy can ensure that a child does not have any genetic defects (unless a woman or a man is a carrier of a defective gene) and helps developing a pregnancy plan. If the diagnostics show that potential parents are carriers of a defective gene, they may get as much information as possible about, for instance, how to prepare for having a child with a genetic disease, which of the prenatal testing should be performed to check the child's health and allow other preventive treatments to be considered, such as: taking advantage of sperm/egg bank or adoption. It is also important to perform prenatal tests in the early fetal life.
DNA Research Center also offers pre-implantation testing. This method involves genetic analysis of the ova before or after fertilization. In addition, it is possible to analyze embryos before implementing them to the uterus of a future mother. This makes it possible to provide medical support to couples who opt for in vitro fertilization. DNA Research Center offers a wide range of prenatal tests for pregnant women.
The summary of examinations conducted at the Center include:
- Diagnosis of cystic fibrosis with genetic analysis of germ cells. The main objective of the study is to detect 7 mutations in the CFTR gene. Testing is usually done first on one or both parents, and if parents are found to be carriers of the cystic fibrosis gene mutation, then the fetus can be tested for fetal testing.
- Diagnosis of haemophilia consists of amplification of the F8 gene, located in the long arm of the X-chromosome (Xq28) (the most common mutation for intron 22). Diagnosis of haemophilia B consists of amplification of the F9 gene. The material is analyzed by fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR)
- Diagnosis of Huntington’s disease including mutation in the IT15 gene coding for the huntingin protein located on the short arm of chromosome 4.
- Diagnosis for Phenylketonuria, based on the examination of those coding sections of the Phenylalanine Hydroxylase (PAH) enzyme, where mutations most often occur (exons 5, 7, 11, 12).
- Diagnosis for Down syndrome, including tests for aneuploidy in chromosome 21.
- Diagnostics for Edwards Syndrome including aneuploidy testing in chromosome 18.
- Diagnosis for Klineferter or Turner syndrome including karyotype analysis to diagnose chromosome aberrations involving the occurrence of an additional X chromosome (Klineferter) or its defect (Turner)
- Prenatal diagnostics using NIFTY, the non-invasive genetic testing, using only a small sample of the future mother's blood to determine the risk of trisomy of chromosomes 21,18 and 13 of the fetus. This is yet another innovative and easy way to successfully diagnose the predispositions of Edwards, Patau and Down Syndrome in a future descendant.
By taking advantage of the professionals' knowledge from all over the world, not only will the Center be an institution for the development of new technologies, but also a clinic with a friendly attitude, especially towards young inexperienced parents. Mobile diagnostic applications will also enable to conduct remote consultations with a physician of the selected specialization. The application will be available to all patients who decided to benefit from DNA Research Center offer.
Malignant neoplasms are diseases that occur in every population and have a relatively high mortality rate. In developed countries, this is the second leading causes of premature death after cardiovascular disease. For many years, both morbidity and mortality due to malignant neoplastic disease have increased. Only in recent years, inhibition of this tendency has been observed. Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells. Loss of control over the transformation is associated with mutations in genes coding proteins involved in the cell cycle: protooncogenes and anti-oncogenes. These mutations cause the cell not to respond at all, or respond inappropriately to signals from the body. The emergence of malignant neoplasm requires several mutations. This results in a long but usually asymptomatic period of the disease development. DNA Research Center conducts both diagnostic and prophylactic, as well as preclinical, examinations on the development of gene therapy for neoplasms. Genetic predisposition is a factor that increases the likelihood of the disease development of several times. Diagnostics conducted at the Center allows verification of the DNA sequencing and risk detection. The analyzes performed by the Center are primarily tests for the diagnosis of the following diseases:
- BRCA1 / BRCA2 gene mutations that cause breast and ovarian carcinoma
- CA-125, neoplastic antigen as an indicator of breast carcinoma, but also adenocarcinoma of the lung and pancreatic cancer.
- CA 15-3 neoplastic antigen as an indicator of breast carcinoma
- CEA antigen - an indicator of hepatocarcinoma, colorectal carcinoma, pancreatic cancer and thyroid carcinoma
- PSA antigen - an indicator specifying prostatic carcinoma
Due to technological development, the specialists working at the Center focus on improving next-generation sequencing (NGS). The said sequencing enables screening of more than a few thousand nucleotide changes in a single test (so-called cancer panels). The study provides cumulative data on any possible cancer lesions. Combining the research capabilities of one of the best-equipped laboratories with the experience and knowledge of outstanding biotechnology and oncology specialists, the Center wish to disseminate the gene therapy within its scope of business activity. Because of the inability to correct the whole genome, the treatments use the method of selective cells elimination with damaged genes. In the Center we offer the following therapies:
- genetic modification of neoplastic cells by inhibiting the mutant gene expression;
- molecular chemotherapy using, the so-called, suicide genes;
- genetic immunotherapy;
- pro-apoptotic gene therapy causing apoptosis induction in neoplastic cells.
Rare diseases are genetically determined conditions of chronic and often fatal course. About half of the cases appear in the childhood. Because of the prevalence rarity, the difficulties in recognizing and lack of social awareness, the knowledge on these diseases has been limited so far. With the development of medical technology, more than six thousand types of such conditions have been diagnosed, and new pathologies are regularly described in medical literature.
DNA Research Center conducts research both for the early diagnosis of the disease and the definition of an effective therapy, depending on the case. The aspects being the subject matter of the majority of research are:
- the DNA sequencing method used for diagnostic purposes, however, still not available for many patients;
- operations in the field of pharmacogenetics for the adaptation of an effective rare disease pharmacotherapy, depending on the genotype.
The genetic tests for early diagnosis of rare diseases include:
Genetics vs Diet and Exercise
- Test for the diagnosis of cystic fibrosis induced by a mutation in both copies of the CFTR gene;
- Test for the diagnosis of spinal muscular atrophy caused by heterozygous deletion within the SMN1 gene
- Test for the diagnosis of phenylketonuria due to a mutation in the gene coding enzyme, phenylalanine hydroxylase (PAH)
- Test for the diagnosis of congenital deafness caused by a mutation of the GJB2 gene coding gap junction protein - connexin 26.
DNA Research Center conducts research on development of personalized nutrition programs and gives a possibility to prepare the so-called "genodiet' based on a variety of information contained in the genetic code, and in the analysis of genes mutual influence. The genodiet analyzes will reduce the incidence of obesity among children, the percentage of which is 45% in Poland. The possibility to prepare a healthy diet plan based on a selected genotype is an effective tool to fight against diet-related diseases as well as food allergies and cardiovascular diseases. In order to promote healthy lifestyle, patients are also offered tests that further specify the individual genetic predispositions for a specific type of an optimized exercise training. Selecting the most suitable activity for a given person will primarily enable an effective reduction of body fat, but also improve athletic performance and speed up regeneration of the athlete's body.