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An Introduction To Human Molecular Genetics : M...

Molecular biology is not simply the study of biological molecules and their interactions; rather, it is also a collection of techniques developed since the field's genesis which have enabled scientists to learn about molecular processes.[6] In this way it has both complemented and improved biochemistry and genetics as methods (of understanding nature) that began before its advent. One notable technique which has revolutionized the field is the polymerase chain reaction (PCR), which was developed in 1983.[6] PCR is a reaction which amplifies small quantities of DNA, and it is used in many applications across scientific disciplines.[7][8]

An introduction to human molecular genetics : m...

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Molecular biology sits at the intersection of biochemistry and genetics; as these scientific disciplines emerged and evolved in the 20th century, it became clear that they both sought to determine the molecular mechanisms which underlie vital cellular functions.[11] Advances in molecular biology have been closely related to the development of new technologies and their optimization.[12] Molecular biology has been elucidated by the work of many scientists, and thus the history of the field depends on an understanding of these scientists and their experiments.

The field of genetics arose as an attempt to understand the molecular mechanisms of genetic inheritance and the structure of a gene. Gregor Mendel pioneered this work in 1866, when he first wrote the laws of genetic inheritance based on his studies of mating crosses in pea plants.[13] One such law of genetic inheritance is the law of segregation, which states that diploid individuals with two alleles for a particular gene will pass one of these alleles to their offspring.[14] Because of his critical work, the study of genetic inheritance is commonly referred to as Mendelian genetics.[15]

In the early 2020s, molecular biology entered a golden age defined by both vertical and horizontal technical development. Vertically, novel technologies are allowing for real-time monitoring of biological processes at the atomic level.[23] Molecular biologists today have access to increasingly affordable sequencing data at increasingly higher depths, facilitating the development of novel genetic manipulation methods in new non-model organisms. Likewise, synthetic molecular biologists will drive the industrial production of small and macro molecules through the introduction of exogenous metabolic pathways in various prokaryotic and eukaryotic cell lines.[24]

While researchers practice techniques specific to molecular biology, it is common to combine these with methods from genetics and biochemistry. Much of molecular biology is quantitative, and recently a significant amount of work has been done using computer science techniques such as bioinformatics and computational biology. Molecular genetics, the study of gene structure and function, has been among the most prominent sub-fields of molecular biology since the early 2000s. Other branches of biology are informed by molecular biology, by either directly studying the interactions of molecules in their own right such as in cell biology and developmental biology, or indirectly, where molecular techniques are used to infer historical attributes of populations or species, as in fields in evolutionary biology such as population genetics and phylogenetics. There is also a long tradition of studying biomolecules "from the ground up", or molecularly, in biophysics.[29]

Biology is the study of life, past and present. Our curriculum offers courses in many fields, from theoretical to experimental biology, and from molecular and genetic mechanisms underlying life to the complex interactions of organisms in ecosystems. As a major research institution, the University of Chicago focuses all courses in the Biological Sciences Collegiate Division on scientific reasoning, research, and discovery. The goals of the Biological Sciences curriculum are to give students (1) an understanding of currently accepted concepts in biology and the experimental support for these concepts, and (2) an appreciation of the gaps in our current understanding and the opportunities and tools available for new discoveries. A major in Biological Sciences can prepare students for careers in a wide range of areas, including health professions, basic or applied research in academia or industry, education, and policy related to human, animal, and planetary health.

Dr. Chris Gunter earned her Ph.D. in human genetics at Emory University in 1998, studying fragile X syndrome and mechanisms of dynamic mutation. She then moved to Case Western Reserve University and completed both postdoctoral work on X chromosome inactivation and an editorial fellowship at the journal Human Molecular Genetics. From 2002 to 2008, Dr. Gunter served as a senior editor for the journal Nature, handling the areas of genetics, genomics, and gene therapy. She then joined the HudsonAlpha Institute for Biotechnology as the director of research affairs, where her responsibilities included creating an academic environment, teaching at the Universities of Alabama Huntsville and Birmingham, and providing scientific content for multiple audiences. After serving as the Program Committee Chair for the American Society of Human Genetics, she worked with students from Stanford University to study how gender influences participation in scientific conferences, and whether public discussion of the imbalance can have an effect.

Most recently, at the Emory University School of Medicine and the Marcus Autism Center, Dr. Gunter coordinated genetics activities and science communication, working with researchers and the public to publish and translate scientific findings. She served as the PI for the Dissemination and Outreach Core of the Center's NIH Autism Center of Excellence grant and is continuing her work on autism genomics in humans and nonhuman primate models.

Pluripotency and proliferative capacity of human embryonic stem cells (hESCs) make them a promising source for basic and applied research as well as in therapeutic medicine. The introduction of human induced pluripotent cells (hiPSCs) holds great promise for patient-tailored regenerative medicine therapies. However, for hESCs and hiPSCs to be applied for therapeutic purposes, long-term genomic stability in culture must be maintained. Until recently, G-banding analysis was considered as the default approach for detecting chromosomal abnormalities in stem cells. Our goal in this study was to apply fluorescence in-situ hybridization (FISH) and comparative genomic hybridization (CGH) for the screening of pluripotent stem cells, which will enable us identifying chromosomal abnormalities in stem cells genome with a better resolution. We studied three hESC lines and two hiPSC lines over long-term culture. Aneuploidy rates were evaluated at different passages, using FISH probes (12,13,16,17,18,21,X,Y). Genomic integrity was shown to be maintained at early passages of hESCs and hiPSCs but, at late passages, we observed low rates mosaiciam in hESCs, which implies a direct correlation between number of passages and increased aneuploidy rate. In addition, CGH analysis revealed a recurrent genomic instability, involving the gain of chromosome 1q. This finding was detected in two unrelated cell lines of different origin and implies that gains of chromosome 1q may endow a clonal advantage in culture. These findings, which could only partially be detected by conventional cytogenetic methods, emphasize the importance of using molecular cytogenetic methods for tracking genomic instability in stem cells.

All five subjects cover the same core material, comprising about 50% of the course, while the remaining material is specialized for each version as described below. Core material includes fundamental principles of biochemistry, genetics, molecular biology, and cell biology. These topics address structure and regulation of genes, structure and synthesis of proteins, how these molecules are integrated into cells and how cells communicate with one another.7.012 Introductory Biology () Prereq: NoneUnits: 5-0-7Credit cannot also be received for 7.013, 7.014, 7.015, 7.016, ES.7012, ES.7013Exploration into biochemistry and structural biology, molecular and cell biology, genetics and immunology, and viruses and bacteria. Special topics can include cancer biology, aging, and the human microbiome project. Enrollment limited to seating capacity of classroom. Admittance may be controlled by lottery.C. Drennan, L. Guarente

7.016 Introductory Biology () Prereq: NoneUnits: 5-0-7Credit cannot also be received for 7.012, 7.013, 7.014, 7.015, ES.7012, ES.7013Lecture: MWF10 (26-100) Recitation: TR9 (35-308) or TR10 (35-308, 8-205, 26-210) or TR11 (8-205) or TR12 (26-210) or TR1 (26-210) or TR3 (VIRTUAL) +finalIntroduction to fundamental principles of biochemistry, molecular biology and genetics for understanding the functions of living systems. Covers examples of the use of chemical biology, the use of genetics in biological discovery, principles of cellular organization and communication, immunology, cancer, and engineering biological systems. In addition, includes 21st-century molecular genetics in understanding human health and therapeutic intervention. Enrollment limited to seating capacity of classroom. Admittance may be controlled by lottery.S. Hrvatin, A. MartinTextbooks (Spring 2023)

7.03 Genetics (, ) Prereq: Biology (GIR)Units: 4-0-8Lecture: MWF11 (32-141) Recitation: M1 (38-166) or T10 (38-166) or T11 (38-166) or T12 (38-166) +finalThe principles of genetics with application to the study of biological function at the level of molecules, cells, and multicellular organisms, including humans. Structure and function of genes, chromosomes, and genomes. Biological variation resulting from recombination, mutation, and selection. Population genetics. Use of genetic methods to analyze protein function, gene regulation, and inherited disease.Fall: O. Corradin, M. Gehring, P. ReddienSpring: O. Corradin, M. Hemann, F. Sanchez-RiveraTextbooks (Spring 2023) 041b061a72


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