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Human Genetics Lab Manual


Redirected T cells genetically modified with a chimeric antigen receptor (CAR) have induced spectacular remissions of refractory leukemia/lymphoma in early phase trials, attracting interest to use CAR T cells in a variety of other applications including solid cancer and nonmalignant diseases. However, extensive preclinical explorations demand highly effective and robust procedures for the genetic modification of blood T cells; the same applies for engineering with a recombinant T cell receptor. We present laboratory procedures in a step-by-step protocol to engineer human and mouse T cells with a CAR by γ-retro- or lentiviral transduction for further preclinical testing.




Human Genetics Lab Manual



Genetic testing availability in the health care system is rapidly increasing, along with the diffusion of next-generation sequencing (NGS) into diagnostics. These issues make imperative the knowledge-drive optimization of testing in the clinical setting. Time estimations of wet laboratory procedure in Italian molecular laboratories offering genetic diagnosis were evaluated to provide data suitable to adjust efficiency and optimize health policies and costs. A survey was undertaken by the Italian Society of Human Genetics (SIGU). Forty-two laboratories participated. For most molecular techniques, the most time-consuming steps are those requiring an intensive manual intervention or in which the human bias can affect the global process time-performances. For NGS, for which the study surveyed also the interpretation time, the latter represented the step that requiring longer times. We report the first survey describing the hands-on times requested for different molecular diagnostics procedures, including NGS. The analysis of this survey suggests the need of some improvements to optimize some analytical processes, such as the implementation of laboratory information management systems to minimize manual procedures in pre-analytical steps which may affect accuracy that represents the major challenge to be faced in the future setting of molecular genetics laboratory.


Revealing monogenic holes in the host defense of otherwise healthy humans has profound clinical implications, offering many families worldwide the possibility of molecular diagnosis and genetic counseling, as well as treatments aimed at restoring a deficient immune response. Patients with genetically impaired type II IFN production, for example, are prone to tuberculosis and benefit from type II IFN.


Basic concept of evolution, evolution as a unifying framework for the study of biology as well as the study of humans, study of human behavior, from mating to religion, from an evolutionary perspective. Introductory course for the Evolutionary Studies program (EvoS), also open to all students in all the schools and colleges at the University. Does not fulfill any requirements for the Biology major or minor. 4 credits. Course fee applies. Refer to the Schedule of Classes. Levels: Undergraduate


FRI Ecological Genetics I is part of the FRI program which provides students with an authentic research experience in genetics at biochemical, cellular and/or organismal levels, through a combination of lecture and laboratory sessions. These topics will be covered in preparation for and within the context of research projects conducted in the FRI Ecological Genetics research stream courses. This course satisfies the requirement of BIOL 115 Introductory Biology Laboratory. Prerequisite: Admittance to the FRI Program and HARP 170. Offered every spring. 4 credits. Course fee applies. Refer to the Schedule of Classes. Levels: Undergraduate


First part of one-year course covering normal human structure and function. Topics include physical-chemical basis of life processes, integrative function of the nervous system, anatomical and physiological interaction of the skeletal-muscular systems and basic endocrinology. Lecture and laboratory. Prerequisites: BIOL 113; CHEM 102 or CHEM 105 or CHEM 108. Does not satisfy the requirements for the major or the minor in biology. 4 credits. Course fee applies. Refer to the Schedule of Classes. Levels: Undergraduate


This course is directed to students interested in microbiology with an emphasis in health related issues. Provides an introduction to the structure, physiology, genetics, ecology, and the evolution of microorganisms. Considering the increasing the detrimental effect of microbes to our health, with infectious diseases being one of the major causes of morbidity and mortality in the developing and developed world, special attention is given to the role of microbes in infectious diseases. Chemotherapeutic and immune control of infectious diseases are also discussed in detail. Prerequisites: BIOL 113 and CHEM 102 or 104 or 107 or 111. No freshman permitted. Offered every spring 4. credits. Levels: Undergraduate


An introduction to genetics. Topics cover the nature and inheritance of genetic material, molecular biology of gene function, gene expression and regulation, genetic variation, evolution and population genetics, methods and tools of genetic research. Prerequisite: BIOL 113 and 114. Offered fall and spring with an online summer option. 4 credits. Levels: Undergraduate


Genetics laboratory course with emphasis on transmission and population genetics, Mendelian segregation, linkage, mapping mutations, complementation, molecular evolution and practical laboratory and statistical techniques. Prerequisites: BIOL 113, 114, 115. 4 credits. Course fee applies. Refer to the Schedule of Classes. Levels: Undergraduate


FRI Ecological Genetics II is part of the FRI program which provides students with an authentic research experience in genetics at biochemical, cellular and/or organismal levels, through a combination of lecture and laboratory sessions. These topics will be covered in preparation for and within the context of research projects conducted in the FRI Ecological Genetics research stream courses. Prerequisite: HARP 170 and BIOL 241. Offered Fall only. 4 credits. Course fee applies. This course satisfies the requirement of BIOL 115 Introductory Biology Laboratory. Refer to the Schedule of Classes. Levels: Undergraduate


Second part of one-year course covering normal human structure and function. Topics include circulatory dynamics, immunology, respiration, digestion, metabolism, temperature regulation, salt and water balance, reproduction and development. Lecture and laboratory. Prerequisites: BIOL 251. 4 credits. Course fee applies. Refer to the Schedule of Classes. Levels: Undergraduate


Chemical and physical features of the marine environment. A survey of pelagic and benthic communities, with an emphasis on temperate intertidal rocky shores. The biology of key organisms is explored and the effect of human activities on marine communities is considered. Prerequisite: BIOL 114. 4 credits. Levels: Undergraduate


Major global issues examined via ecological fundamentals and their application. Fundamentals include climate patterns, energy flow, nutrient cycling, population dynamics, plant ecology, species interactions. Issues include biodiversity crisis, ecosystem services, global warming, habitat fragmentation, human population growth, invasive species, pollution (acidification, biocides, eutrophication, nitrogen saturation), population exploitation. Graduate students will not receive graduate credit for this course. Prerequisite: BIOL 114; Students may earn credit for either BIOL 355 or BIOL 373, not both. Offered both fall and spring. 4 credits. Levels: Undergraduate


Plant structure, function, evolution, diversity and relationships to humans, other organisms and the environment. Prerequisites: BIOL 113, 114, or consent of Instructor. Lecture and laboratory. 4 credits. Course fee applies. Refer to the Schedule of Classes. Levels: Undergraduate


Seminar focusing on AIDS (acquired immune deficiency syndrome). Involves in-depth analyses of human immunodeficiency virus (HIV) and its impact on the immune system of the host. This includes discussions of genetic complexity of HIV, and cutting edge research into developing immune, biochemical and molecular tools to target its life cycle and develop therapies and vaccines against it. Oral topics include CD4/GP120 fusion inhibitors, neutralizing antibodies, chemokine co-receptors, targeting regulatory genes TAT, REV and NEF, inhibiting reverse transcriptase, HIV protease and integrase, RNAi/Crispr approaches, evolution of HIV, vaccines, non-progressors, maternal/pediatric AIDS, epidemiology, and use of HIV as a therapy. Prerequisites: Biol 113 and 114. Offered in fall and spring. 2 credits. Levels: Undergraduate


This course provides an introduction to evolutionary concepts relevant to biological and human social sustainability. Evolutionary training is essential because: a) the genetic evolution of nonhuman species takes place on ecological time scales; and b) human cultural change is also an evolutionary process. A single set of evolutionary principles can therefore be applied to both the natural and human components of coupled natural and human systems. This is a highly interdisciplinary course in the style of a graduate seminar. Undergrads must be prepared to work hard but no specialized knowledge is required at the beginning. 4 credits. Levels: Undergraduate


Evolutionary theory as a theoretical framework that can be applied to a diversity of subjects in the biological and human-related sciences. Built around the EvoS seminar series. 2 credits. Graduate students will not receive graduate credit for this course. Levels: Undergraduate


Information can be transmitted across generations by cultural in addition to genetic processes, especially in humans but also other species. This course will review the modern study of culture as an evolutionary process, including the social and psychological mechanisms that enable cultural transmission to take place, the differences and similarities between biological and cultural evolution, and the consequences of gene-culture co-evolution. Prerequisites: BIOL 105 (cross listed as ANTH 280F), ANTH 111, BIOL 351, or permission of instructor. 4 credits. Levels: Undergraduate 041b061a72


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