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Category Archives: Human Genetics

The Genetic Basics: What Are Genes and What Do They Do? – A …

Posted: May 16, 2016 at 11:44 pm

Chromosomes contain the recipe for making a living thing. They are found in almost every cells nucleus and are made from strands of DNA (deoxyribonucleic acid). Segments of DNA called "genes" are the ingredients. Each gene adds a specific protein to the recipe. Proteins build, regulate and maintain your body. For instance, they build bones, enable muscles to move, control digestion, and keep your heart beating.

Two of these 46 chromosomes determine the sex of a person. A girl inherits two X-chromosomes, one from her mother and one from her father. A boy inherits one X-chromosome from his mother and a small Y-chromosome from his father.

A gene can exist in many different forms, calledalleles. For example, lets say that there is one gene which determines the color of your hair. That one gene may have many forms, or alleles: black hair, brown hair, auburn hair, red hair, blond hair, etc. You inherit one allele for each gene from your mother and one from your father.

Each of the two alleles you inherit for a gene each may be strong ("dominant") or weak ("recessive"). When an allele is dominant, it means that the physical characteristic ("trait") it codes for usually is expressed, or shown, in the living organism. You need only one dominant allele to express a dominant trait. You need two recessivealleles to show a recessive form of a trait. See the heredity diagram for tongue rolling to see how dominant and recessive alleles work.

Tongue Rolling Heredity Diagram

There are several ways the genetic code can be altered. Sometimes genes are deleted or in the wrong place on a chromosome, or pieces of genes are swapped between chromosomes. As a result, the gene may not work or may turn on in the wrong part of the body.

"Point mutations" alter the genetic code by changing the letters in the codons -- the three-symbol genetic words that specify which protein to make. This can change the protein.

Original message: SAM AND TOM ATE THE HAM

Kind of point mutation

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The Genetic Basics: What Are Genes and What Do They Do? - A ...

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Genetics Conferences | Human Genetics Conferences | Europe …

Posted: March 10, 2016 at 1:42 pm

Track 1:Cellular and Molecular Genetics

The study of genetics at the level of the basic building blocks of cells and at the DNA level. Cells are as complex as they are tiny and much is still unknown about the inner workings of these building blocks of life. If you'd like to log hours in a lab and use advanced equipment to help advance the understanding of how cells work, studies in cellular and molecular biology could be for you. Biology is the study of living things, and cellular or molecular biology studies living things on the smallest possible scale. To prepare for a career in cellular or molecular biology, individuals must have a strong understanding of chemistry, statistics and physics. The research of cellular and molecular biologists is integral to things like the development of new medications, the protection of aquatic ecosystems and the improvement of agricultural products. A student pursuing an undergraduate or graduate degree in cellular and molecular Genetics spends time divided between classroom lectures and practical laboratory instruction. Research is an important part of this field, and students must be comfortable using highly advanced pieces of equipment to conduct experiments. In addition, cellular and molecular biology programs teach students about cellular structures and their functions, how cells make and use things like proteins and enzymes and much more. Courses covered in a molecular or cellular biology degree program may include microbiology, epidemiology, microscopy and molecular genetics. The following Study.com articles offer more details about this field of study.

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International Conference on Clinical AndMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31October 02November 2016 (Valencia, Spain); International Conference on Genetic Counselling AndGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); 2015 Midwest Conference onCell Therapy& Regenerative Medicine September 18-19 2015 (Kansas City, Missouri); 2nd Cell &Gene TherapyConference 9-10 September 2015 (Philadelphia, United States); Cell &Gene TherapyEurope 29-30 September 2015 (Barcelona, Spain); Cell Manufacturing andGene TherapyCongress 2015 2-3 December 2015 (Brussels, Belgium).

Track 2:Clinical Genetics

Clinical Genetics is the medical specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of Genetic Services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. In addition a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. Individuals identified through childhood or pregnancy screening programmes also require genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk. Testing for genetic factors that affect drug prescribing will also increasingly become an important activity.

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World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling AndGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 3:Genomics: Disease & Evolution

Genomicsis a discipline ingeneticsthat appliesrecombinant DNA,DNA sequencingmethods, andbioinformaticsto sequence, assemble, and analyze the function and structure ofgenomes(thecompleteset of DNA within a single cell of an organism).Advances in genomics have triggered a revolution in discovery-based research to understand even the most complex biological systems such as the brain.The field includes efforts to determine the entireDNA sequenceof organisms and fine-scalegenetic mapping. The field also includes studies of intragenomic phenomena such asheterosis,epistasis,pleiotropyand other interactions betweenlociandalleleswithin the genome.In contrast, the investigation of the roles and functions of single genes is a primary focus ofmolecular biologyorgeneticsand is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.

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Cell &Gene TherapyCongress, 19-21 May 2016 (San Antonio, USA); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); 2nd International Congress on Neuroimmunology and Therapeutics, March 31-April 02, 2016 (Atlanta, USA); 2nd International Conference and Exhibition on Antibodies, July 14-15, 2016 (Philadelphia, USA); 16th International Congress of Immunology, August 21-26, 2016 (Melbourne, Australia); IMMUNOLOGY 2016, AAI Annual Meeting, May 1317, 2016 (Seattle, WA); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 4: Cancer Genetics:

Canceris agenetic disorderin which the normal control ofcell growthis lost.Cancer geneticsis now one of the fastest expandingmedical specialties. At themolecularlevel, cancer is caused bymutation(s)inDNA, which result in aberrantcellproliferation. Most of these mutations areacquiredand occur insomatic cells. However, some peopleinherit mutation(s) in thegerm line. The mutation(s) occur in two classes of cellulargenes:oncogenesandtumor suppressor genes. Under normal conditions, tumor suppressor genes regulate cellular differentiation and suppression of proliferation. Mutations in these genes result in unchecked cellular proliferation resulting in tumors with abnormalcell cyclesand tumor proliferation. The tumor suppressor genes contribute to cancer by the inactivating ofloss of function mutation.

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International Conference onCervical Cancer,22-23 September, 2016 (Vienna, Austria); 6th World Congress onCancer Therapy, 01-03 December, 2016 (Baltimore, USA); 13th Global Summit onCancer Therapy17-19 October, 2016 (Dubai, UAE); International Conference onPancreaticand Colorectal Cancer, 29-30 March, 2016 (Atlanta, USA); Global Summit onMelanomaAnd Carcinoma, 14-15 July, 2016 (Brisbane, Australia); Chromatin andEpigeneticin Cancer ( Atlanta, Georgia); Advances inOvarianCancer Research: Exploiting Vulnerabilities (Orlando, Florida); Advance inBreast CancerResearch ( Washington, DC); Advances inPediatric CancerResearch (Florida); New Horizons in Cancer Research Conference (Sanghai, China).

Track 5:Stem cells and Regenerative Medicine

Many of the stem cells being studied are referred to aspluripotent, meaning they can give rise to any of the cell types in the body but they cannot give rise on their own to an entirely new body. (Only the earliest embryonic cells, which occur just after fertilization, can give rise to a whole other organism by themselves.) Other stem cells, such as the ones found in the adult body, aremultipotent, meaning they can develop into a limited number of different tissue types. One of the most common stem cell treatments being studied is a procedure that extracts a few stem cells from a person's body and grows them in large quantities in the laboratorywhat scientists refer to as expanding the number of stem cells. Once a sufficient number have been produced in this manner, the investigators inject them back into the patient. You could say that medicine up until now has been all about replacements. If your heart valve isn't working, you replace it with another valve, say from a pig. With regenerative medicine, you're treating the cause and using your own cells to perform the replacement. The hope is that by regenerating the tissue, you're causing the repairs to grow so that it's like normal.

Genetic disorders may or may not be heritable, i.e., passed down from the parents' genes. In non-heritable genetic disorders, defects may be caused by new mutations or changes to the DNA

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World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling AndGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 6:Cancer and Genome Integrity

The research program in the Genome Integrity is focused on the exploration of the causes and effects of genomic instability, mechanisms of DNA repair and the study of DNA repair breakdown as an initiating or protective event in aging and cancers. The program will emphasize a mechanistic understanding of the pathways that maintain genomic integrity, the intersection of these pathways with normal cellular physiology and cancer and the application of these insights to the development of new therapeutic strategies.The Genome integrity has made major contributions towards a detailed understanding of DNA repair pathway selection as a primary influence on genomic stability and drug resistance/sensitivity in breast and ovarian cancers and the influential role of DNA repair proteins in the promotion of specific hematological malignancies

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World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 7:Diabetes and Obesity

The UK is officially the 'fattest' country in Europe, with approximately1 in 5adults overweight and one in every 15 obese. Over the next 20 years, the number of obese adults in the country is forecast to soar by a staggering 73% to 26 million people. According to health experts, such a rise would result in more than a million extra cases oftype 2 diabetes,heart diseaseandcancer. Obesity is also no longer a condition that just affects older people, although the likelihood does increase with age, and increasing numbers of young people have been diagnosed with obesity. While the exact causes of diabetes are still not fully understood, it is known that factors up the risk of developing different types of diabetes mellitus.For type 2 diabetes, this includes being overweight or obese (having a body mass index - BMI - of 30 or greater).In fact, obesity is believed to account for 80-85% of the risk of developing type 2 diabetes, while recent research suggests that obese people are up to 80 times more likely to develop type 2 diabetes than those with aBMI of less than 22.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track 8:Congenital disorders

Congenital disorder, also known ascongenital disease,birth defectoranomaly is a condition existing at or beforebirth regardless of cause. Of these diseases, those characterized by structural deformities are termed "congenital anomalies" and involve defects in a developingfetus. Birth defects vary widely in cause and symptoms. Any substance that causes birth defects is known as ateratogen. Some disorders can be detected before birth throughprenatal diagnosis(screening). Birth defects are present in about 3% of newborns in USA.Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990.[9]The type with the greatest numbers of deaths arecongenital heart disease(323,000), followed byneural tube defects(69,000).

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4th International Conference on Integrative Biology, July 18-20, 2016 (Berlin, Germany); International Conference on Genetic Counseling and Genomic Medicine, August 11-12, 2016 (Birmingham, UK); International Conference on Synthetic Biology, August 15-17, 2016 (London, United Kingdom); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); World Congress onHuman Genetics, 31 October02 November 2016 (Valencia, Spain); Mitochondrial Dynamics (D2), April 3-7, 2016 (Colorado, USA); Mitochondrial Medicine 2016, June 15-18, 2016 (Seattle,USA); The 2016 Gordon Research Conference on Mitochondria & Chloroplasts, June 19-24, 2016 (Vermont, USA); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 9:Cytogenetics

Cytogeneticsis a branch ofgeneticsthat is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis ofG-bandedchromosomes, other cytogenetic banding techniques, as well asmolecular cytogeneticssuch asfluorescentin situhybridization(FISH) andcomparative genomic hybridization(CGH). Chromosomes were first observed in plant cells byKarl Wilhelm von Ngeliin 1842. Their behavior in animal (salamander) cells was described byWalther Flemming, the discoverer ofmitosis, in 1882. The name was coined by another German anatomist,von Waldeyerin 1888.

The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (thekaryotype) was the carrier of the genes. Levitsky seems to have been the first to define the karyotype as thephenotypicappearance of thesomaticchromosomes, in contrast to theirgeniccontents. Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normaldiploidhuman cell contain? In 1912,Hans von Winiwarterreported 47 chromosomes inspermatogoniaand 48 inoogonia, concluding anXX/XOsex determinationmechanism. Painterin 1922 was not certain whether the diploid number of man was 46 or 48, at first favoring 46.He revised his opinion later from 46 to 48, and he correctly insisted on man having anXX/XYsystem. Considering their techniques, these results were quite remarkable.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track 10:Transplantation

Transplantation is the transfer (engraftment) of human cells, tissues or organs from a donor to a recipient with the aim of restoring function(s) in the body. When transplantation is performed between different species, e.g. animal to human, it is named xenotransplantation. Development of the field of organ and tissue transplantation has accelerated remarkably since the human major histocompatibility complex (MHC) was discovered in 1967. Matching of donor and recipient for MHC antigens has been shown to have a significant positive effect on graft acceptance. The roles of the different components of the immune system involved in the tolerance or rejection of grafts and in graft-versus-host disease have been clarified. These components include: antibodies, antigen presenting cells, helper and cytotoxic T cell subsets, immune cell surface molecules, signaling mechanisms and cytokines that they release. The development of pharmacologic and biological agents that interfere with the alloimmune response and graft rejection has had a crucial role in the success of organ transplantation Combinations of these agents work synergistically, leading to lower doses of immunosuppressive drugs and reduced toxicity. Reports of significant numbers of successful solid organ transplants include those of the kidneys, liver, heart and lung. The use of bone marrow transplantation for hematological diseases, particularly hematological malignancies and primary immunodeficiencies, has become the treatment of choice in many of these conditions

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World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 - 26 April 2016 (Dubrovnik, Croatia)

Track 11:Neurodevelopmental disorders

Neurodevelopmental disordersare impairments of the growth and development of the brain orcentral nervous system. A narrower use of the term refers to a disorder of brain functionthat affectsemotion,learning ability,self-controlandmemoryand that unfolds as the individualgrows. The term is sometimes erroneously used as an exclusive synonym forautismandautism spectrumdisorders. The development of the brain is orchestrated, tightly regulated, and genetically encoded process with clear influence from the environment. This suggests that any deviation from this program early in life can result in neurodevelopmental disorders and, depending on specific timing, might lead to distinct pathology later in life. Because of that, there are many causes of neurodevelopmental disorder, which can range from deprivation,geneticandmetabolic diseases, immune disorders,infectious diseases,nutritionalfactors, physical trauma, and toxic and environmental factors. Some neurodevelopmental disorderssuch asautismand otherpervasive developmental disordersare considered multifactorialsyndromes(with many causes but more specific neurodevelopmental manifestation).

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track12:Pharmacogenetics

Pharmacogeneticsis the study of inheritedgeneticdifferences in drugmetabolic pathwayswhich can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects.The term pharmacogenetics is often used interchangeably with the termpharmacogenomicswhich also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behavior through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function. In oncology,pharmacogeneticshistorically is the study ofgerm line mutations(e.g.,single-nucleotide polymorphismsaffecting genes coding for liver enzymes responsible for drug deposition andpharmacokinetics), whereaspharmacogenomicsrefers tosomatic mutationsintumoralDNA leading to alteration in drug response (e.g.,KRASmutations in patients treated withanti-Her1biologics).

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track13:Pharmacogenomics

Pharmacogenomics is the study of how genes affect a persons response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a persons genetic makeup. Many drugs that are currently available are one size fits all, but they dont work the same way for everyone. It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience negative side effects (called adverse drug reactions). Adverse drug reactions are a significant cause of hospitalizations and deaths in the United States. With the knowledge gained from the Human Genome Project, researchers are learning how inherited differences in genes affect the bodys response to medications. These genetic differences will be used to predict whether a medication will be effective for a particular person and to help prevent adverse drug reactions.The field of pharmacogenomics is still in its infancy. Its use is currently quite limited, but new approaches are under study in clinical trials. In the future, pharmacogenomics will allow the development of tailored drugs to treat a wide range of health problems, including cardiovascular disease,Alzheimer disease, cancer, HIV/AIDS, and asthma.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track14:Drug discovery

Driven by chemistry but increasingly guided by pharmacology and the clinical sciences,drugresearch has contributed more to the progress of medicine during the past century than any other scientific factor. Improving the science ofdrug developmentand regulation is important in fulfilling the public health. The advent of molecular biology and, in particular, of genomic sciences is having a deep impact ondrug discovery. Emphasis is placed on the contrast between the academic and industrial research operating environments, which can influence the effectiveness of research collaboration between the two constituencies, but which plays such an important role indrug innovation. The strategic challenges that research directors face are also emphasized.

RelatedGenetics Conferences|Human Genetics Conferences|Conference Series LLC

International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track15:Bioinformatics in Human Genetics

Recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the growing role of hospital information technology (IT) systems and electronic health records, amass ever-increasing amounts of data before human genetics scientists and clinicians. However, they have ever-improving tools to analyze those data for research and clinical care. Correspondingly, the field of bioinformatics is turning to research questions in the field of human genetics, and the field of human genetics is making greater use of bioinformatic algorithms and tools. The choice of "Bioinformatics and Human Genetics" as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in human genetics. Experts from among the attendees of the Paris 2010 Human Variome Project symposium provide a survey of some of the "hot" computational topics over the next decade. These experts identify the promise-what human geneticists who are not themselves bioinformaticians stand to gain-as well as the challenges and unmet needs that are likely to represent fruitful areas of research.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track16:Anthropology

Anthropologyis the study ofhumanity.Its main subdivisions aresocialandcultural anthropology, which describes the workings of societies around the world,linguistic anthropology, which investigates the influence of language in social life, and biological or physical anthropology. Anthropology concerns long-term development of the human organism.Archaeology, which studies past human cultures through investigation of physical evidence, is thought of as a branch of anthropology in the United States, although in Europe, it is viewed as a discipline in its own right, or grouped under related disciplines such as history.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game ofEpigenomicsConference, 24 - 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial AmericanCytogeneticsConference,16-18 May, 2016 (Oregon, USA); The EuropeanHuman GeneticsConference 2016, 21-24 May, 2016 (Barcelona, Spain); 4thInternational workshop onCancer Genetic&CytogeneticDiagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin andEpigenetics, 20-24 Mar 2016 (Whistler, Canada)

1. Scope and Importance of Human Genetics:

Scope: The Scope of the conference is to gather all the Doctors, Researchers, Business Delegates and Scientists to approach and deliver all the attendees about the latest scientific advancements on the respective sphere. This Human Genetics Conference is the premier event focusing on understanding individual and organizational behaviour and decision-making related to genetics and molecular biology, biotechnology, pharmaceuticals, medicals and academia.

Importance: Conference on Human Genetics is a much celebrated conference which basically deals with the latest research and developments in the sphere of genetics and molecular biology. This Conference will provide a perfect platform to all the International mix of leading Research Scholars, and Scientists achieved eminence in their field of study, research academicians from the universities and research institutions, industrial research professionals and business associates along with Ph.D. Students to come and inform all the attendees about the latest scientific advancements on the respective sphere.

2. Why its in Valencia, Spain?

In the last decade, pre-implantation genetic diagnosis and screening (PGD; PGS) have become widely used in IVF treatments: in 2005 nearly 6000 PGD/PGS (5 per cent of all IVF cycles) had been performed in Europe. The diffusion of these technologies, however, is not homogenous; whilst in some countries PGD is prohibited and in others is hardly implemented, Spain performs 33 per cent of all the PGD/PGS (ESHRE 2007). Combining the analysis of juridical documents with semi-structured interviews to past and present members of the Spanish National Assisted Reproduction Committee (CNRHA), this study suggests that the remarkable diffusion of PGD/PGS in Spain may be largely due to the interaction between the growing momentum enjoyed by embryonic stem cell research and a vibrant expansion of IVF business along the Mediterranean coast. In this process, genetic issues per se seem to play a minor role, although the prevention of genetic diseases constitutes the formal rationale for the extension of PGD from monogenic, early onset diseases to polygenic, late-onset ones.

3. Member Associated with Human Genetics Research

The Members who are associated with Genetics Research includes Societies, Associations, Institutes, Universities and other Research Organizations.

A. City Statistics: Approximately, more than 2876 members involved in Genetics and related researches in the city of Valencia.

B. Country Statistics: Approximately, more than 17775 members involved in Genetics and related researches in Spain.

C. Worldwide statistics: Europe: Approximately, more than 56083 members involved in Genetics and related researches. USA: Approximately, more than 24285 members involved in Genetics and related researches. Global: Approximately, 1291100 members involved in Genetics and related researches.

4. Societies Associated with Human Genetics Research

Some of the renowned societies involved in genetic research

A. Societies in Valencia and Spain:

B. Societies in Europe:

C. Societies in Globe:

5. Industries Associated with Human Genetics Research:

The Major Industries or Companies and laboratories associated with Genetics research are listed below:

A. By City - Some of the major companies in Valencia:

Sistemas Genomicos, Reproductive Genetics Unit, Paterna (Valencia); Instituto de Medicina Genmica, IMEGEN, Paterna (Valencia); LifeSequencing; Oncovision etc.

B. By Country Some of the major companies in Spain:

AC-Gen Reading Life SL, Valladolid; Cidegen, SL, Salamanca; Diagnostico Genetico Canarias, Las Palmas de Gran Canaria; Genetadi Biotech, GENETADI, Derio-BILBAO (SPAIN); GENETAQ, Molecular Genetics Centre, Malaga; Genetracer Biotech, Santander; Genyca, Madrid; Health in Code S.L., Corua; Innovagenomics S.L, Innovagenomics, Salamanca; Diagnostics in Iron Metabolism Diseases (DIRON), Badalona

C. Global:

Abbott Laboratories; AutoGenomics; Biocartis; Bio-Rad Laboratories; Cepheid; EKF Diagnostics; Elitech Group; IntegraGen; Interpace Diagnostics; Myriad Genetics; Perkin Elmer; Qiagen; Quest Diagnostics; Roche Diagnostics; WaferGen Biosystems

6. Universities Associated with Human Genetics

A. City Statistics:

University of Valencia , Universidad catolica de Valencia, Valencian international university, CEU Cardenal Herrera University, La Universidad Catlica de Valencia

B. Country Statistics - Spain:

University of Zaragosa, University of Barcelona, Universitat Pompeu Fabra, Universidad Complutense de Madrid , Universidad Autonoma de Madrid

C. Worldwide Statistics:

European university Switzerland, Vilnius university, Uppsala University, Universita degli study di Torino, Maastricht University, Graz University of Technology, Harvard University, Leiden University Medical Center, Center for Human and Clinical Genetics, University of Oxford, Stanford University, University of Cambridge.

7. Market Value on Human Genetics Research:

The global market for Genetic Testing is forecast to reach US$2.2 billion by 2017. Increasing knowledge about the potential benefits in genetic testing is one of the prime reasons for the growth of the genetic testing market. Advancements in the genetic testing space, aging population and a subsequent rise in the number of chronic diseases, and increasing incidence of cancer cases are the other factors propelling growth in the genetic testing market.

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Contact Us – Welcome to the Department of Genetics at …

Posted: March 8, 2016 at 7:45 pm

Mailing Addresses

Main Departmental Office: Human Genetics Institute Life Sciences Building 145 Bevier Road Piscataway, NJ 08854-8082

Undergraduate Departmental Office: Department of Genetics, Nelson Bio Labs-B416 604 Allison Road Piscataway, NJ 08854-8082

Dr. Linda Brzustowicz - Chair This email address is being protected from spambots. You need JavaScript enabled to view it. (P) 848-445-1638 (F) 732-445-1636

Marylou Carmona - Department Administrator This email address is being protected from spambots. You need JavaScript enabled to view it. (P) 848-445-1638 (F) 732-445-1636

Kathleen McDonald - Administrative Assistant This email address is being protected from spambots. You need JavaScript enabled to view it. (P) 848-445-1146 (F) 732-445-6920

Dr.Christopher Rongo - Vice Chair This email address is being protected from spambots. You need JavaScript enabled to view it. (P) 848-445-0955 (F) 732-445-5735

Email: Gary A. Heiman, PhD This email address is being protected from spambots. You need JavaScript enabled to view it.

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Human Genetics – Sarah Lawrence College

Posted: February 23, 2016 at 2:42 pm

Explore innovation at the nexus of health, science, and society. Join the world-renowned Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College.

The mission of the Human Genetics program is to improve health care for all people by educating genetic counselors so they are prepared to meet current and future needs of their clients, their communities, their profession, and society at large.

Established in 1969, the program was the first of its kind in the United States. It remains the largest graduate program in Human Genetics in the world, and has trained half of the nations genetic counselors.

As defined by the National Society of Genetic Counselors, genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. This process integrates:

The American Board of Genetic Counselingdiscusses the profession in general terms and lists the accredited genetic counseling training programs. The National Society of Genetic Counselorsprovides additional information about the field as well as a function that allows you to find a genetic counselor in your community. In addition, Sarah Lawrence College hosts an annual Genetic Counseling Career Day that provides a wide array of information about the profession.

The Joan H. Marks Graduate Program in Human Genetics gives students a comprehensive understanding of the medical, scientific, and counseling aspects of human genetics, placing equal emphasis on medical genetics and psychological approaches to working with patients.

The interdisciplinary curriculum enables students to integrate both theoretical and practical knowledge while developing research, analytical, and communication skills.

The program has a worldwide reputation for excellence and attracts a rich mix of students from around the world.

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Home Institute for Human Genetics at UCSF

Posted: November 3, 2015 at 12:43 pm

Y.W. Kans pioneering research into the hemoglobinopathies sickle cell anemia and thalassemia has widely impacted genetic research, diagnostics, and treatment of human disease. The Institute for Human Genetics is proud to recognize Y.W. Kan with a symposium honoring his decades-long contributions.

Y.W. Kan arrived at UCSF in the 1970s when he and many others (including Herb Boyer and Bishop & Varmus) helped usher in the era of molecular genetics. With long-time collaborator Andre Dozy, he discovered the first polymorphism in human DNA by Southern blot analysis in 1978, launching the ability to map genes on human chromosomes.

He and another long-time collaborator, Judy Chang, used those same techniques in 1979 to show how missing genes cause disease. He is the recipient of many national and international awards for his contributions. He continues to investigate the treatment of these diseases using stem cell and iPS cell therapies.

The Symposium will feature presentations from James Gusella, Katherine High, Dennis Lo, Bertram Lubin, Robert Nussbaum, Stuart Orkin, and Griffin Rodgers. Stuart Orkin will be featured as the 2015 Charles J. and Lois B. Epstein Visiting Professor.

Featured topics will includegene mapping, gene therapy, hemoglobinopathies, and non-invasive prenatal testing.

The IHG Symposium will be held November 2, 2015 at 1:00-6:30 in Cole Hall on the UCSF Parnassus campus and will include a poster session and awards.

IHG Symposium website|Register Now

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European Journal of Human Genetics

Posted: September 26, 2015 at 5:44 pm

NPG will be exhibiting at the American Society of Human Genetics (ASHG) conference in Baltimore, USA from 6-10 October 2015. Visit the NPG stand for free copies, giveaways and more!

Volume 23, No 10 October 2015 ISSN: 1018-4813 EISSN: 1476-5438

2014 Impact Factor 4.349* 70/289 Biochemistry & Molecular Biology 36/167 Genetics & Heredity

Editor-in-Chief: G-J B van Ommen

Thank you to everyone who attended our 'How to get published' session at ESHG. For those who didn't make it, please see our presentation and booklet which we hope will help with the whole process of publishing.

European Journal of Human Genetics offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from the press release or our FAQs page.

The Practical Genetics series delivers a one-stop-shop information resource for genetics clinicians.

Clinical Utility Gene Cards, commissioned by EuroGentest, bring together information on specific diseases and provide clinicians with guidance on disease characteristics and genetic testing.

Latest research highlights and reviews from the NPG family of journals

Author Benefits of publishing in European Journal of Human Genetics

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Genetics – Smithsonian’s Human Origins Program

Posted: September 15, 2015 at 5:42 am

DNA

Through news accounts and crime stories, were all familiar with the fact that the DNA in our cells reflects each individuals unique identity and how closely related we are to one another. The same is true for the relationships among organisms. DNA, or deoxyribonucleic acid, is the molecule that makes up an organisms genome in the nucleus of every cell. It consists of genes, which are the molecular codes for proteins the building blocks of our tissues and their functions. It also consists of the molecular codes that regulate the output of genes that is, the timing and degree of protein-making. DNA shapes how an organism grows up and the physiology of its blood, bone, and brains.

DNA is thus especially important in the study of evolution. The amount of difference in DNA is a test of the difference between one species and another and thus how closely or distantly related they are.

While the genetic difference between individual humans today is minuscule about 0.1%, on average study of the same aspects of the chimpanzee genome indicates a difference of about 1.2%. The bonobo (Pan paniscus), which is the close cousin of chimpanzees (Pan troglodytes), differs from humans to the same degree. The DNA difference with gorillas, another of the African apes, is about 1.6%. Most importantly, chimpanzees, bonobos, and humans all show this same amount of difference from gorillas. A difference of 3.1% distinguishes us and the African apes from the Asian great ape, the orangutan. How do the monkeys stack up? All of the great apes and humans differ from rhesus monkeys, for example, by about 7% in their DNA.

Geneticists have come up with a variety of ways of calculating the percentages, which give different impressions about how similar chimpanzees and humans are. The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. A comparison of the entire genome, however, indicates that segments of DNA have also been deleted, duplicated over and over, or inserted from one part of the genome into another. When these differences are counted, there is an additional 4 to 5% distinction between the human and chimpanzee genomes.

No matter how the calculation is done, the big point still holds: humans, chimpanzees, and bonobos are more closely related to one another than either is to gorillas or any other primate. From the perspective of this powerful test of biological kinship, humans are not only related to the great apes we are one. The DNA evidence leaves us with one of the greatest surprises in biology: the wall between human, on the one hand, and ape or animal, on the other, has been breached. The human evolutionary tree is embedded within the great apes.

The strong similarities between humans and the African great apes led Charles Darwin in 1871 to predict that Africa was the likely place where the human lineage branched off from other animals that is, the place where the common ancestor of chimpanzees, humans, and gorillas once lived. The DNA evidence shows an amazing confirmation of this daring prediction. The African great apes, including humans, have a closer kinship bond with one another than the African apes have with orangutans or other primates. Hardly ever has a scientific prediction so bold, so out there for its time, been upheld as the one made in 1871 that human evolution began in Africa.

The DNA evidence informs this conclusion, and the fossils do, too. Even though Europe and Asia were scoured for early human fossils long before Africa was even thought of, ongoing fossil discoveries confirm that the first 4 million years or so of human evolutionary history took place exclusively on the African continent. It is there that the search continues for fossils at or near the branching point of the chimpanzee and human lineages from our last common ancestor.

Due to billions of years of evolution, humans share genes with all living organisms. The percentage of genes or DNA that organisms share records their similarities. We share more genes with organisms that are more closely related to us.

Humans belong to the biological group known as Primates, and are classified with the great apes, one of the major groups of the primate evolutionary tree. Besides similarities in anatomy and behavior, our close biological kinship with other primate species is indicated by DNA evidence. It confirms that our closest living biological relatives are chimpanzees and bonobos, with whom we share many traits. But we did not evolve directly from any primates living today.

DNA also shows that our species and chimpanzees diverged from a common ancestor species that lived between 8 and 6 million years ago. The last common ancestor of monkeys and apes lived about 25 million years ago.

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European Society of Human Genetics: Home

Posted: August 8, 2015 at 1:42 pm

is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.

The 2015 registration process for the European registered Clinical Laboratory Geneticist (ErCLG) by the European Board of Human Genetics has started and is open until September 15, 2015.

Information on eligibility criteria, required documents and the submission process can be found here.

Applications can be made exclusively via the new online submission tool.

11.Jun.2015

We wish to thank almost 2,700participants and over 145 exhibiting companiesand their staff for having attended the ESHG Conference in Glasgow. We hope to see you in Barcelona in May 2016.

View the following sessions as web-cast:

-Opening Plenary Session- selected talks -ESHG-ASHG Building Bridges Symposium on "Genetic testing in children" -Plenary Debate: "Should all geneticists have their genome sequenced?" -Mendel Lecture -ESHG Award Lecture

Access the streaming

Videos are nowavailable as on-demand download.

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UCLA Human Genetics

Posted: July 12, 2015 at 2:42 pm

The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies.

The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions.

Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. Our faculty and staff welcome inquiries from prospective students. We also hope that a quick look at our web pages will give you a better idea of the Department's research and educational activities.

News Highlights

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Program Information | Johns Hopkins – Institute of Genetic …

Posted: at 2:42 pm

Fields of Study and Research

Many general areas of research are available in the Human Genetics program:

Approximately 10 - 12 new students are admitted to the program each year. Our students interact with trainees in several other programs at Hopkins including postdoctoral fellows in Human Genetics, as well as predoctoral students in many of the other graduate programs on the School of Medicine campus including Biochemistry, Cellular and Molecular Biology (BCMB); Neuroscience; Immunology; and Cellular and Molecular Medicine (CMM).

Below are listed the courses required of all students in the program. These includes a human biology core that has been adapted from the basic medical school curriculum. The first course that incoming students will take is Genetics & Medicine: History of Ideas. In this seminar course, students revisit articles that have been the cornerstome of the evolution in the field and discuss the historical and scientific context in which such discoveries were made.

Further on, our students are required to take courses that are part of the core curriculum for BCMB and other programs on campus, where they will acquire an extensive knowledge of molecular biology, genetics of model systems, and human genetics. The introductory course in Human Genetics and three advanced genetics seminars are required, as well as basic graduate courses in Molecular Biology, Fundamentals of Genetics, Biochemistry and Cell Biology. We believe that the time spent in formal course work, although significant in the first year and a half of the program, provides our students with an excellent, broad-based foundation for careers in biomedical research.

Listed in blue boxes are those courses that are shared with other Graduate Programs in the School of Medicine. Those courses listed in a red box are specific for Human Genetics Students.

Electives available include existing courses in human biology as well as those in genetics and molecular biology. In addition, there are many other courses available in the Schools of Medicine, School of Public Health and at Homewood which may be appropriate for individualized programs. These include courses in Bioinformatics, Advanced Biostatistics and many other subject-related topics.

Research training begins soon after the student enters the program. The rotation electives are selected by the student according to his/her interests. A series of informal luncheon meetings with the faculty as well as the Human Genetics Student/Faculty retreat, held in September each year, provides the student with an opportunity to become acquainted with the research activities of each of the preceptors.

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