Era Of Molecular Genetics Research Articles

Therapy of Primary Breast Cancer in the 21st Century: A Prediction.

New treatment selection criteria will arise from molecular biology parameters of growth and treatment response, most probably coupled with the increasing use of initial chemotherapy and repeated minimally invasive surgery. Secondary and hopefully also primary prevention of breast cancer will become more and more successful in the era of molecular genetics, and such interventions will be more directed to individuals and groups at defined higher risk. Surgery will increasingly tend towards “minimally invasive surgery,” which favors not only cosmetics and quality of life, but also more appropriate imaging follow-up. Primary (preoperative) chemo- and endocrine therapy will become the standard initial form of breast cancer treatment, with the intent of down-staging of the tumors to allow later breast-conserving procedures, but also to use the tumor as a biological response parameter and hopefully also for better clinical outcome. Economical parameters might become more and more decisive, as we will have to live with much more “evidence based medicine” and with much more restricted allocation of resources in the future. This might mean, that we will have to diligently develop more simple and cheaper, but not prognostically worse treatment strategies in years to come. More specifically: Do we still need all of the traditional steps in diagnosis and treatment of breast cancer in order to achieve the same results? Finally in all of this, we have to make clearcut assumptions, supported also by society and people involved: How do we value “gained years of life” in breast cancer adjuvant and prevention trials? This certainly is not predominantly a medical or economical, but rather an ethical, social and political problem, which has to be finally answered by our socio-cultural environment, and not by doctors alone.

Realities and virtual realities of inborn errors of metabolism: biochemical genetics in the molecular genetic era.

Realities and virtual realities of inborn errors of metabolism: biochemical genetics in the molecular genetic era.

Male pseudohermaphroditism

Male pseudohermaphroditism (MPH) is a complex variety of sexual differentiation disorders characterized by deficiency of masculinization of the internal and/or external genital organs in the presence of testicular development as the male gonad. This condition is caused by embryonic failure in the processes of male sexual development, which is a sequence of mechanisms originating from the genetic sex determination triggered by the SRY gene on the Y chromosome, followed by genital sex differentiation influenced by the fetal testis. Resulting phenotypical features of MPH vary from complete female to mostly normal but with some ambiguity in the maleness. Pubertal changes are also important factors related to etiology. Recent elucidation of detailed mechanisms of male differentiation and its derangements has been achieved in the era of molecular genetics. Classical classification of MPH, mainly based on anatomical and endocrinological findings obviously needs to subject to a complete revision. The newest version of MPH classification is reviewed and discussed in relation to etiological backgrounds of each type of the disorder. Main etiological factors are: failure of the SRY and its related genes involved in the testis determination; failure of anti-mülerian hormone (AMH) for normal involution of the female duct system; disordered production or function of androgen receptors essential for the fetal differentiation of the male genital organs; 5 alpha-reductase deficiency syndrome; defective responsiveness of the testis to gonadotropin due to Leydig cell agenesis; various types of enzyme defects involved in testicular androgen biosynthesis; fetal testicular dysgenesis syndromes occurring at various stages of embryogenesis; and other less clearly defined entities of MPH. Implications are that other types of sexual differentiation disorders than MPH, such as true hermaphroditism, gonadal dysgenesis and some other disorders that have been considered to be distinct entities, may have close linkage to MPH through dysgenetic process of gonadal development with subsequent degeneration and/or tumorigenesis. Molecular basis of these probably related disorders should be elucidated in the near future and some clues to preventive measures for these genetically determined malformations are awaited.

Australian genetics: a brief history.

Although Australia has a productive history in plant and animal breeding, fundamental genetics was late in becoming established. Before the 1950s there was no separate department of genetics in any university in the country. Reasons for the delay include geographical isolation, Australian and British colonial science policy, and the lack of a 'critical mass' of researchers. Through the efforts of Ian Clunies Ross and the CSIR several prominent scientists were induced to come from overseas to set up the framework for an Australian-based genetics community. Since that time fundamental genetics in Australia has flourished with high quality graduates in genetics being produced at a number of universities, and many local research programs being initiated. This period has seen the gradual internationalization of Australian genetics and increased collaboration with overseas researchers taking place. This paper provides an historical overview of the origins and progress of genetics in Australia beginning with plant breeding in the first decades of this century to the present era of molecular genetics. Significant personalities, institutions, policies, reports and publications are discussed in order to make sense of the current structures.

Advances and retreats in the molecular genetics of major mental illness.

With the last two decades, the importance of genetic factors in the aetiology of major mental illness has been firmly re-established and psychiatric research has now firmly embraced the era of molecular genetics. Despite a number of false starts in the study of schizophrenia and affective disorder, there have been successes in unmasking some of the aetiological secrets of Alzheimer's disease. We will give an overview of the rationale behind these studies and the major findings to date.