Pathogenetics. an introductory review

Pathogenetics refers to studying the different aspects of initiation/development/progression and pathogenesis of genetic defects. It comprises the study of mutagens or factors capable of affecting the structural integrity of the genetic material leading to mutational changes that, in the majority of cases, result in harmful effects due to the resulting disturbances of functions of mutated components of the genome. The study of mutagens depicts different types of mutagenic factors, their nature, their classification according to their effects on the genetic material and their different modes of action. The study of mutation involves different types of mutations classified according to various parameters, e.g. magnitude, severity, target of mutational event as well as its nature, which can be classified, in turn, according to whether it is spontaneous or induced, static or dynamic, somatic or germinal mutation etc. Finally, pathogenetics comprises studying and delineating the different and innumerable pathophysiological alterations and pathogenetic mechanisms that are directly and indirectly involved in, and leading to, the development of genetic disorders, coupled with a parallel study of various anti-mutation mechanisms that play critical roles in minimizing the drastic effects of mutational events on the genetic material and in effective protection against the development of these diseases

Formal genetic maps

Formal genetic maps are databases, represented as text or graphic figures, that can be collected/organized/formulated and constructed for nearly any, and every, structural or functional region of the genetic material. Though these maps are basically descriptive, their analysis can provide relevant crucial data that can be applied for different purposes in many fields. The more comprehensive these maps are the more significant information that can be provided through their analysis. Formal genetic maps comprise four main categories: physical maps detailing the structural characteristics of different regions/sequences of both the nuclear and the mitochondrial genomes, functional maps describing the varied functional potentials of the different components of the gen-ome/transcriptome/proteome, experimental induced maps that are intentionally designed and constructed for specific purposes and constructed maps that are deduced and extracted from other formal maps to serve particular targets that cannot be achieved solely by the constituent maps. Formal genetic maps have a wide spectrum of applications in all fields of human genetics including basic genetics as well as medical genetics. The beneficial impact of the different types of formal genetic maps imposed their application in nearly all fields of medical genetics including basic/clinical/diagnostic/therapeutic/prophylactic and applied genetics and made these maps indispensable tools in research studies relevant to these fields

Cancer: Some genetic considerations

Malignant transformation of normal cells to cancer cells represents an enigmatic phenomenon because of the many ambiguous controversies embodied within most of its aspects. Within a clinical context, cancer, with very few exceptions, is a dreadful disease that ends lethally. Within a biological context, however, cancer is a peculiar biosystem that has its own rules that regulate the actions/interactions/structure and behavior of its components. Unfortunately, the majority of these rules are, still, unknown. The current disappointing situation as regards research trials aiming at constructing effective treatments for cancer might be attributed, in part, to incomplete recognition of the significant differences between these two contexts of malignant transformation. Although the peculiar characteristics of cancer as a self-dependent biosystem are well studied and well defined, the basic dilemma of malignant transformation continues to exist: we know, largely, how things happen but we do not know, to any extent, why they happen. Though the logic that motivates researches aiming at formulating genetic therapies for cancer is quite reasonable, as cancer is primarily a genetic alteration, lack of essential basic knowledge regarding the different aspects of this alteration adjourn successful radical cure of cancer. Till comprehensive disclosure of the underlying mechanisms regulating growth/progression/metastasis and survival of malignant cells is attained, treatments of cancer based on different strategic concepts, viz. proteomic therapies rather than genetic therapies, might, hopefully, be the best approaches available in the fight against cancer in the current as well as in the coming era

Biological evolution: Some genetic considerations

The concept of biological evolution has long been accepted as a palatable theory aiming at explaining how life began and how creatures diverged so widely along the life span of the earth. Meticulous analysis and criticism of the different postulations of this concept, however, reveals that evolution is an illogic concept based on theoretical hypotheses that can never be tested. Creation, on the other hand, represents the other side of the coin, and up till now debates confronting creation versus evolution are still occupying much interest of atheist as well as of believer biologists. The motive for accepting the concept of evolution by most biologists, stems solely from their atheism and their saying that creation can neither be experimented nor validated, the same criticism directed against their assumptions regarding the basic aspects of evolution. This article, through analysis, criticism and reevaluation of some relevant genetic considerations that have long been traditionally considered as observations in support of the concept of evolution, viz. genetic memory and evolutionary variations, genomic adaptations to stress and evolution, comparative genomics and natural versus targeted selection, tries to elucidate and reveal some insensible assumptions embodied within the core ideas of evolution that stand in direct controversy with many well-known facts regarding the structure, function and behavior of living matter. Natural selection might be observed in nature but not in life. The concept of biological evolution is an illogic and insensible hypothesis since it stands in direct contradiction with our current knowledge regarding the behavior as well as the structural and functional characteristics of the human genome and human proteome. Additionally, almost all basic postulations of this concept can neither be tested nor imitated for experimentation, which is a prerequisite for acceptance and validation of any scientific hypotheses

Stem cells .. basics and applications

Stem cells are cells that divide to form one daughter cell that goes on to differentiate, and one daughter cell that retains its stem-cell properties. All stem cells regardless of their source have three general properties: they are unspecialized, they are capable of dividing and renewing themselves for long periods, and under certain physiologic or experimental conditions, they can be induced to become cells with special functions, i.e. they can give rise to specialized cell types. Importance of stem cells Sources of stem cells Prospects of stem cells Spectrum of stem cell research Stem Cells in Early Development Biological Characteristics Of Stem Cells Using Stem Cells for Human Therapy Practical Aspects of Embryonic Stem Cell Research Adult Stem Cells The Potential Uses Of Human Stem Cells The Production Of Human Embryonic Stem Cells By Somatic Cell Nuclear Transfer L Chromatin Decondensation and Nuclear Reprogramming by Nucleoplasmin