Navarra大学的研究者Borja Sáez Ochoa提出了诊断多发性骨髓瘤(MM)的新的遗传方法,多发性骨髓瘤是骨髓癌的一种类型,研究者发现的这种新方法可以在早期阶段检测到多发性骨髓瘤疾病。??
Borja Sáez Ochoa生物学家在Navarra大学科学学院遗传部和德国Schleswig-Holstein医院人类遗传研究所做的论文主要着重于对多发性骨髓瘤遗传学基础研究和后期发育的细胞遗传学诊断策略的研究。??
鉴于这个目的,他通过统计学方法对一群多发性骨髓瘤病人的细胞发生的变化进行了分析。该方法论可以发现特殊染色体改变之间的联系,以及新类型疾病的描述。另外,荧光原位杂交技术可以鉴别有关病理学表现的新的循环遗传改变。??
多发性骨髓瘤主要发病于60岁以上的老人。2001年,在Spain发现了1716个多发性骨髓瘤病例,其中1554人死于该疾病,。根据Borja Sáez研究,他们通过研究计划发展起来的新的诊断方法,比如,FISH 和FICTION策略,可以在疾病的早期阶段快速简单地发现遗传的改变,这样可以进行早期诊断。另外,他还强调,这些操作促进了未来更有效治疗多发性骨髓瘤的分子靶的描述。??
多发性骨髓瘤遗传诊断的新技术已经在Spain的20家医院得到应用。在不远的将来,这些实验将容许我们根据每个病人的遗传改变来采纳相应的治疗方案,但这可能不能完全治愈该疾病,他可能转移为一种慢性疾病而成为没有任何症状的病。
英文原文:
An advanced genetic diagnostic method for multiple myeloma
A researcher at the University of Navarra, Borja Sáez Ochoa, has proposed a new genetic diagnostic method for multiple myeloma (MM), a type of bone marrow cancer, which permits the detection of this disease in earlier stages.
The dissertation of this biologist, produced in the Department of Genetics of the School of Sciences of the University of Navarra, and in the Institute of Human Genetics of the University Hospital of Schleswig-Holstein, en Kiel (Germany), is oriented towards the study of the genetic base of this cancer, and the posterior development of cytogenetic diagnostic strategies for the detection of alterations with prognostic value.
For this purpose, he has analyzed, by means of statistical methods, the cytogenetic changes in a group of patients with MM. This methodology has permitted the discovery of associations between specific chromosomal changes, and thus the description of a new classification of the disease. In addition, the technique of hybridization in situ with fluorescence allowed him to identify new recurrent genetic changes that are involved in the appearance of this pathology.
A disease associated with old age
Multiple myeloma is a disease which primarily affects persons above 60 years of age. In 2001 in Spain, 1716 new cases were detected, and 1554 patients with the disease died, with 20 of these in Navarra. According to Borja Sáez, with the new methods of diagnosis developed through this research project, such as the FISH and FICTION strategies, we will be able to detect genetic alterations rapidly and easily in the early stages of the disease, permitting its early diagnosis. In addition, he emphasized that these procedures will promote the description of molecular targets for future, more effective treatments of MM.
These new techniques for genetic diagnosis of MM are already being applied in 20 hospitals in Spain. And in a not too distant future, these tests will permit us to offer each patient a treatment adapted to the genetic modifications that he or she presents, which, while they may not provide a cure for the disease, will make it possible to transform it into a chronic and asymptomatic pathology.