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Genetics vs. Genomics Fact Sheet – Genome.gov

Posted: December 18, 2022 at 12:33 am

Proteomics

The suffix "-ome" comes from the Greek for all, every, or complete. It was originally used in "genome," which refers to all the genes in a person or other organism. Due to the success of large-scale biology projects such as the sequencing of the human genome, the suffix "-ome" is now being used in other research contexts. Proteomics is an example. The DNA sequence of genes carries the instructions, or code, for building proteins. This DNA is transcribed into a related molecule, RNA, which is then translated into proteins. Proteomics, therefore, is a similar large-scale analysis of all the proteins in an organism, tissue type, or cell (called the proteome). Proteomics can be used to reveal specific, abnormal proteins that lead to diseases, such as certain forms of cancer.

Pharmacogenetics and Pharmacogenomics

The terms "pharmacogenetics" and "pharmacogenomics" are often used interchangeably in describing the intersection of pharmacology (the study of drugs, or pharmaceuticals) and genetic variability in determining an individual's response to particular drugs. The terms may be distinguished in the following way.

Pharmacogenetics is the field of study dealing with the variability of responses to medications due to variation in single genes. Pharmacogenetics takes into account a person's genetic information regarding specific drug receptors and how drugs are transported and metabolized by the body. The goal of pharmacogenetics is to create an individualized drug therapy that allows for the best choice and dose of drugs. One example is the breast cancer drug trastuzumab (Herceptin). This therapy works only for women whose tumors have a particular genetic profile that leads to overproduction of a protein called HER2. (See: Genetics, Disease Prevention and Treatment)

Pharmacogenomics is similar to pharmacogenetics, except that it typically involves the search for variations in multiple genes that are associated with variability in drug response. Since pharmacogenomics is one of the large-scale "omic" technologies, it can examine the entirety of the genome, rather than just single genes. Pharmacogenomic studies may also examine genetic variation among large groups of people (populations), for example, in order to see how different drugs might affect different racial or ethnic groups.

Pharmacogenetic and pharmacogenomic studies are leading to drugs that can be tailor-made for individuals, and adapted to each person's particular genetic makeup. Although a person's environment, diet, age, lifestyle, and state of health can also influence that person's response to medicines, understanding an individual's genetic makeup is key to creating personalized drugs that work better and have fewer side effects than the one-size-fits-all drugs that are common today. (See: Genetics, Disease Prevention and Treatment). For example, the U.S. Food and Drug Administration (FDA) recommends genetic testing before giving the chemotherapy drug mercaptopurine (Purinethol) to patients with acute lymphoblastic leukemia. Some people have a genetic variant that interferes with their ability to process this drug. This processing problem can cause severe side effects, unless the standard dose is adjusted according to the patient's genetic makeup. (See: Frequently Asked Questions about Pharmacogenomics).

Stem Cell Therapy

Stem cells have two important characteristics. First, stem cells are unspecialized cells that can develop into various specialized body cells. Second, stem cells are able to stay in their unspecialized state and make copies of themselves. Embryonic stem cells come from the embryo at a very early stage in development (the blastocyst staqe). The stem cells in the blastocyst go on to develop all of the cells in the complete organism. Adult stem cells come from more fully developed tissues, like umbilical cord blood in newborns, circulating blood, bone marrow or skin.

Medical researchers are investigating the use of stem cells to repair or replace damaged body tissues, similar to whole organ transplants. Embryonic stem cells from the blastocyst have the ability to develop into every type of tissue (skin, liver, kidney, blood, etc.) found in an adult human. Adult stem cells are more limited in their potential (for example, stem cells from liver may only develop into more liver cells). In organ transplants, when tissues from a donor are placed into the body of a patient, there is the possibility that the patient's immune system may react and reject the donated tissue as "foreign." However, by using stem cells, there may be less risk of this immune rejection, and the therapy may be more successful.

Stem cells have been used in experiments to form cells of the bone marrow, heart, blood vessels, and muscle. Since the 1990's, umbilical cord blood stem cells have been used to treat heart and other physical problems in children who have rare metabolic conditions, or to treat children with certain anemias and leukemias. For example, one of the treatment options for childhood acute lymphoblastic leukemia [cancer.gov] is stem cell transplantation therapy.

There has been much debate nationally about the use of embryonic stem cells, especially about the creation of human embryos for use in experiments. In 1995, Congress enacted a ban on federal financing for research using human embryos. However, these restrictions have not stopped researchers in the United States and elsewhere from using private funding to create new embryonic cell lines and undertaking research with them. The embryos for such research are typically obtained from embryos that develop from eggs that have been fertilized in vitro - as in an in vitro fertilization clinic - and then donated for research purposes with informed consent of the donors. In 2009, some of the barriers to federal financing of responsible and scientifically worthy human stem cell research were lifted.

Cloning

Cloning can refer to genes, cells, or whole organisms. In the case of a cell, a clone refers to any genetically identical cell in a population that comes from a single, common ancestor. For example, when a single bacterial cell copies its DNA and divides thousands of times, all of the cells that are formed will contain the same DNA and will be clones of the common ancestor bacterial cell. Gene cloning involves manipulations to make multiple identical copies of a single gene from the same ancestor gene. Cloning an organism means making a genetically identical copy of all of the cells, tissues, and organs that make up the organism. There are two major types of cloning that may relate to humans or other animals: therapeutic cloning and reproductive cloning.

Therapeutic cloning involves growing cloned cells or tissues from an individual, such as new liver tissue for a patient with a liver disease. Such cloning attempts typically involve the use of stem cells. The nucleus will be taken from a patient's body cell, such as a liver cell, and inserted into an egg that has had its nucleus removed. This will ultimately produce a blastocyst whose stem cells could then be used to create new tissue that is genetically identical to that of the patient.

Reproductive cloning is a related process used to generate an entire animal that has the same nuclear DNA as another currently or previously existing animal. The first cloned animals were frogs. Dolly, the famous sheep, is another example of cloning. The success rates of reproductive animal cloning, however, have been very low. In 2005, South Korean researchers claimed to have produced human embryonic stem cell lines by cloning genetic material from patients. However, this data was later reported to have been falsified.

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Genetics vs. Genomics Fact Sheet - Genome.gov

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Human Genetics and Molecular Biology, PhD – Johns Hopkins University

Posted: December 18, 2022 at 12:33 am

Ph.D. Program

The Johns Hopkins Human Genetics Training Program provides a training in all aspects of human genetics and genomics relevant to human biology, health and disease.

The overall objective of the Human Genetics program is to provide our students with a strong foundation in basic science by exposure to a rigorous graduate education in genetics, genomics, molecular biology, cell biology, biochemistry and biostatistics as well as a core of medically-related courses selected to provide knowledge of human biology in health and disease. Advances in human genetics and genomics continue at an astounding rate and increasingly they are being integrated into medical practice. The Johns Hopkins Predoctoral Training Program in Human Genetics (HG) aims to educate highly motivated and capable students with the knowledge and experimental tools that will enable them to answer important questions at the interface between genetics and medicine. Ultimately, our trainees will be the leaders in delivering the promise of genetics to human health.

The Human Genetics Program has also partnered with the Johns Hopkins Bloomberg School of Public Health (JHSPH) and the National Human Genome Research Institute (NHGRI) in establishing the Maryland Genetics, Epidemiology, and Medicine Training Program (MD-GEM). Funded by the Burroughs Wellcome Fund, MD-GEM takes a multidisciplinary approach by combining the expertise of all three institutions, to foster the development of a new generation of scientists. Interested Human Genetics students can participate in this additional training.

This program is also offered as training for medical students in the combined M.D./Ph.D. program. Students apply to the combined program at the time of application to the M.D. program. (See section entitled Medical Scientist Training Program).

Research laboratories are well equipped to carry out sophisticated research in all areas of genetics. The proximity to renown clinical facilities of the Johns Hopkins Hospital, including the Department of Genetic Medicine, and Oncology Center provides faculty and students with access to a wealth of material for study. Computer and library facilities are excellent. Because the program in human genetics is a university-wide activity, supporting facilities are extensive.

The program is supported by a limited number of teaching assistantships and predoctoral training funds from the National Institutes of Health. These fellowships, which are restricted to United States citizens and permanent United States residents, cover tuition and provide monthly stipends and are awarded to essentially all students in the program. Students are encouraged, however, to apply for fellowships from outside sources (e.g., the National Science Foundation, Howard Hughes Medical Institute) before entering the program.

Applicants for admission should show a strong academic foundation with coursework in biology, chemistry and quantitative analysis. Applicants are encouraged to have exposure to lab research or to data science. A bachelor's degree from a qualified college or university will be required for matriculation. We no longer require GREs to be taken.

The Human Genetics site has up-to-date information on How to Apply. For questions not addressed on these pages, please email Sandy Muscelli, the program administrator, at muscelli@jhmi.edu.

The program includes the following required core courses: Molecular Biology and Genomics, Cell Structure, Computational Bootcamp, Pathways and Regulation, Human Genetics, Evolving Concept of a Gene, Basic Mechanisms of Disease, Genomic Technologies, Rigor and Reproducibility in Research, Molecular Mechanisms of Disease and Systems, Genes and Mechanisms of Disease, some of which are listed in the entries of the departments of Cell Biology, Molecular Biology and Genetics, Biological Chemistry and Cell Biology. Numerous elective courses are available and are listed under sponsoring departments.

Our students must take a minimum of four electives, one of which must provide computational/statistical training.

Our students also take a two-week course in July at the Jackson Labs in Bar Harbor, Maine entitled "Human and Mammalian Genetics and Genomics: The McKusick Short Course" which covers the waterfront from basic principles to the latest developments in mammalian genetics. The faculty numbers about 50 and consists roughly in thirds of JAX faculty, Hopkins faculty and guest faculty comprising outstanding mammalian geneticists from other US universities and around the world.

The courses offered by the faculty of the program are listed below. All courses are open to graduate students from any university program as well as selected undergraduates with permission of the course director.

Students must complete three research rotations before deciding on their thesis lab. They must also participate in the Responsible Conduct of Research sessions offered by the Biomedical Program; starting at year 3, students must attend at least two Research Integrity Colloquium lectures per year.

Our students participate in weekly journal clubs, department seminars,monthly Science & Pizza presentations as well as workshops given twice a year on diversity, identity and culture.

At the end of the second year, students take their Doctoral Board Oral Examination. Annual thesis committee meetings must be held following successful completion of this exam.

Average time for completion is 5.5 years.

Graduates from the Human Genetics program pursue careers in academia, medicine, industry, teaching, government,law, as well the private sector. Our trainees are encouraged to explore the full spectrum of professional venues in which their training my provide a strong foundation. Driven by curiosity and a desire for excellence, our trainees stand out as leaders in the chosen arenas of professional life. They are supported in the development of their career plans by a program faculty and administration who are dedicated to their success, and by a myriad of support networks across the Johns Hopkins University, many of which are provided by the Professional Development Career Office of the School of Medicine.

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Human Genetics and Molecular Biology, PhD - Johns Hopkins University

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Tiziana to Participate in January Investor Meetings

Posted: December 18, 2022 at 12:22 am

New York, Dec. 16, 2022 (GLOBE NEWSWIRE) -- Tiziana Life Sciences Ltd. (Nasdaq: TLSA) (“Tiziana” or the “Company”), a biotechnology company enabling breakthrough CNS immunomodulation approaches to enhance the functionality of Treg-based therapies, announced today that the Company plans to present at the Biotech Showcase and host institutional investor and partnering meetings at this event, as well as at the LifeSci Corporate Access Event. Both in-person events are taking place January 9-10, 2023 in San Francisco, California.

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uniQure announces positive CHMP opinion for etranacogene dezaparvovec – gene therapy for adults with hemophilia B

Posted: December 18, 2022 at 12:22 am

If approved, etranacogene dezaparvovec would be the first licensed gene therapy in Europe for people living with hemophilia B If approved, etranacogene dezaparvovec would be the first licensed gene therapy in Europe for people living with hemophilia B

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Press Release: Dupixent® (dupilumab) recommended for EU approval by the CHMP for the treatment of eosinophilic esophagitis

Posted: December 18, 2022 at 12:22 am

Dupixent® (dupilumab) recommended for EU approval by the CHMP for the treatment of eosinophilic esophagitis

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BioStem Technologies Announces Up-Listing to the OTCQB Venture Market

Posted: December 18, 2022 at 12:22 am

POMPANO BEACH, FLORIDA., Dec. 16, 2022 (GLOBE NEWSWIRE) -- BioStem Technologies Inc. (OTCQB: BSEM), a leading regenerative medicine company focused on the development, manufacture, and commercialization of placental derived biologics, is pleased to announce that its common shares have been successfully up-listed from the OTC Pink Sheet Open Market to the OTCQB Venture Market (the “OTCQB”) by the OTC Markets Group Inc. (“OTC Markets”). The Company’s common shares will begin trading on the OTCQB under the symbol “BSEM” as of the opening of market on December 16, 2022.

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ORYZON Awarded EU Grant to Further Explore the Role of Iadademstat in Oncological Immunotherapy Approaches

Posted: December 18, 2022 at 12:22 am

MADRID, Spain and BOSTON, Dec. 16, 2022 (GLOBE NEWSWIRE) -- Oryzon Genomics, S.A. (ISIN Code: ES0167733015, ORY), a clinical-stage biopharmaceutical company leveraging epigenetics to develop therapies in diseases with strong unmet medical need, announced today the approval by the EU-intergovernmental organization EUREKA secretariat of funding for the BRAVE Project (Breaking immune Resistance of Advanced cancers by HERV-K Vaccination and Epigenetic modulation) under the Eurostars-3 program. This project will be developed in collaboration with two European partners: the Danish company ImProTher and the University of Copenhagen, and will evaluate the role of iadademstat in several immunotherapy strategies, including checkpoint inhibitors and/or oncological vaccines, in solid tumors.

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Athenex Exits 503B Sterile Compounding Business

Posted: December 18, 2022 at 12:22 am

Full-year 2022 product sales guidance maintained at 20-25% growth year-over-year Full-year 2022 product sales guidance maintained at 20-25% growth year-over-year

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CHMP recommends expansion of EU label for Hemlibra to include people with moderate haemophilia A

Posted: December 18, 2022 at 12:22 am

Basel, 16 December 2022 - Roche (SIX: RO, ROG; OTCQZ: RHHBY) today announced that the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) has recommended expansion of the Hemlibra® (emicizumab) European Union (EU) marketing authorisation. If approved, Hemlibra would also be indicated for the routine prophylaxis of bleeding episodes in people with haemophilia A (congenital factor VIII deficiency) without factor VIII inhibitors, who have moderate disease (FVIII ?1% and ? 5%) with a severe bleeding phenotype. It is estimated that people with moderate haemophilia A make up 14% of the haemophilia A population.3

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Palisade Bio Provides Update on U.S. Phase 2 Study Evaluating LB1148 for Post-Surgical Abdominal Adhesions

Posted: December 18, 2022 at 12:22 am

Topline data readout from study expected in first half of 2023

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