Category Archives: Gene Medicine

Sessions/Tracks

Track 1:Molecular Biology

Molecular biologyis the study of molecular underpinnings of the processes ofreplication,transcription,translation, and cell function. Molecular biology concerns themolecularbasis ofbiologicalactivity between thebiomoleculesin various systems of acell,gene sequencingand this includes the interactions between theDNA,RNAand proteinsand theirbiosynthesis. Inmolecular biologythe researchers use specific techniques native to molecular biology, increasingly combine these techniques and ideas from thegeneticsandbiochemistry.

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2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, Canada; 9th International Conference onGenomicsandPharmacogenomics, June 15-16, 2017 London, Uk; 6th International Conference and Exhibition onCellandGene Therapy, Mar 27-28, 2017 Madrid, Spain; Gordon Research Conference,Viruses&Cells, 14 - 19 May 2017, Lucca, Italy;Human Genome Meeting(HGM 2017), February 5-7 2017, Barcelona, Spain; Embl Conference:Mammalian GeneticsAndGenomics:From Molecular Mechanisms To Translational Applications, Heidelberg, Germany, October 24, 2017;GeneticandPhysiological Impacts of Transposable Elements, October 10, 2017, Heidelberg, Germany.

American Society for Cell Biology;The Society for Molecular Biology & Evolution;American Society for Biochemistry and Molecular Biology;The Nigerian Society of Biochemistry and Molecular Biology;Molecular Biology Association Search Form - CGAP.

Track 2:Gene Therapy and Genetic Engineering

Thegenetic engineeringis also called asgenetic modification. It is the direct manipulation of an organism'sofgenomeby usingbiotechnology. It is a set of technologies used to change the genetic makeup of the cell and including the transfer of genes across species boundaries to produce improved novelorganisms. Genesmay be removed, or "knocked out", using anuclease.Gene is targetinga different technique that useshomologousrecombinationto change anendogenous gene, and this can be used to delete a gene, removeexons, add a gene, or to introducegenetic mutations. There is an dna replacement therapy, Genetic engineering does not normally include traditional animal and plant breeding, gene sequencing, in vitro fertilization, induction of polyploidy,mutagenesisand cell fusion techniques that do not use recombinant nucleic acids or a genetically modified organism in the process,diseases treated with gene therapywas initially meant to introduce genes straight into human cells, focusing on diseases caused by single-gene defects, such as cystic fibrosis, hemophilia, muscular dystrophy and sickle cell anemia

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8thWorld Congress onMolecular Pathology, June 26-27, 2017 San Diego, USA; 11thInternational Conference onSurgical Pathology& Practice, March 27-28, 2017, MADRID, SPAIN; 13th EuropeanPathologyCongress, Aug 02-03, 2017, MILAN, ITALY; 28th Annual Meeting, Austrian Society ForHuman GeneticsAnd The Swiss Society OfMedical GeneticsCombined Meeting 2017 march 29, 2017 - March 31, 2017, bochum , Germany.

Association for Clinical Genetic Science;Genetics Society of America | GSA;Association of Genetic Technologists;Molecular Genetics - Human Genetics Society of Australasia;Genetic Engineering - Ecological Farming Association.

Track 3:Cell & Gene Therapy

Cell therapy is also calledcellular therapyorCyto therapy, in which cellular material is injected into patient this generally means intact, living cells. The first category iscell therapyin mainstream medicine. This is the subject of intense research and the basis of potential therapeutic benefit. Such research can be controversial when it involves human embryonic material. The second category is in alternative medicine, and perpetuates the practice of injecting animal materials in an attempt to cure disease.Gene therapyis the therapeutic delivery of nucleic acid polymers into a patient's cells as a drug to treat disease. Gene therapy is a way to fix agenetic problemat its source. The polymers are either translated into proteins, interfere with targetgene expression, or possibly correct genetic mutations. The most common form uses DNA that encodes a functional,therapeutic gene to replace a mutated gene. The polymer molecule is packaged within a "vector", which carries the molecule inside cells. Vectors used in gene therapy, the vector incorporates genes intochromosomes. The expressed nucleases then knock out and replace genes in the chromosome. The Center forCell and Gene Therapyconducts research into numerous diseases, including but not limited to PediatricCancer, HIV gliomaandCardiovascular disease.

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2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, 27 Canada ; 7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand ; American Society ofGeneandCell Therapy(ASGCT) 20th Annual Meeting, 10 - 13 May 2017, Washington, DC;Genomic Medicine for Clinicians(course), January 25-27, 2017, Hinxton , Cambridge, UK; Embo Conference:ChromatinandEpigenetics, Heidelberg, Germany, May 3, 2017; 14th International Symposium on Variants in theGenomeSantiago de Compostela, Galicia, Spain, June 5 - 8, 2017;

Genetics and Molecular Medicine - American Medical Association;Genetics Society of America / Gsa;British Society for Genetic Medicine;British Society for Gene and Cell Therapy; Australasian Gene Therapy Society.

Track 4:Cell Cancer Immunotherapy

Immunologydeals with the biological and biochemical basis for the body's defense against germs such as bacteria, virus and mycosis (fungal infections) as well as foreign agents such asbiological toxinsand environmental pollutants, and failures and malfunctions of these defense mechanisms. Cancer immunotherapy is the use of the immune system to treat cancer. Immunotherapies can be categorized as active, passive or hybrid (active and passive). Antibodies are proteins produced by the immune system that bind to a target antigen on the cell surface. The immune system normally uses them to fight pathogens. A type of biological therapy that uses substances to stimulate or suppress the immune system to help the body fight cancer, infection, and other diseases. Some types of immunotherapy only target certain cells of the immune system. Others affect the immune system in a general way. Types of immunotherapy include cytokines, vaccines, bacillus Calmette-Guerin (BCG), and some monoclonal antibodies.

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9thAnnual Meeting onImmunologyandImmunologist, July 03-05, 2017 Kuala Lumpur, Malaysia; 8th MolecularImmunology&ImmunogeneticsCongress, March 20-21, 2017 Rome, Italy; 8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; July 03-05, 2017; B Cells and T Follicular Helper Cells Controlling Long-Lived Immunity (D2), April 2017, 2327, Whistler, British Columbia, Canada; Mononuclear Phagocytes in Health,Immune Defense and Disease, 304 May, Austin, Texas, USA;Modeling Viral Infections and ImmunityMAY 2017, 14, Estes Park, Colorado, USA; IntegratingMetabolism and Immunity(E4)292 June, Dublin, Ireland.

The American Association of Immunologists;Clinical Immunology Society ; Indian Immunology Society;IUIS - International Union of Immunological Societies;American Society for Histocompatibility and Immunogenetics.

Track 5:Clinical Genetics

Clinical geneticsis the practice of clinical medicine with particular attention tothe hereditary disorders. Referrals are made togenetics clinicsfor the variety of reasons, includingbirth defects,developmental delay,autism,epilepsy, and many others. In the United States, physicians who practice clinical genetics are accredited by theAmerican Board of Medical Genetics and Genomics(ABMGG).In order to become a board-certified practitioner of a Clinical Genetics, a physician must complete minimum of 24 months of his training in a program accredited by the ABMGG. Individual seeking acceptance intoclinical geneticstraining programs and should hold an M.D. or D.O. degree (or their equivalent)and he/she have completed a minimum of 24 months of their training in ACGME-accredited residency program internal medicine, pediatrics and gynecology or other medical specialty.

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Belgian Society OfHuman GeneticsMeeting 2017 february 17, 2017, Belgium; American College Of Medical Genetics 2017 AnnualClinical GeneticsMeeting march 21-25 2017, phoenix , United States; German Society Of Human Genetics 28th Annual Meeting, Austrian Society ForHuman GeneticsAnd The Swiss Society OfMedical GeneticsCombined Meeting 2017 march 29, 2017 - March 31, 2017, bochum , Germany; Spanish Society OfHuman GeneticsCongress 2017april 25, 2017 - April 28, 2017 madrid , Spain;

Clinical Genetics Associates;Clinical Genetics Society(CGS);The genetic associate;International Conference on Clinical and Medical Genetics;Association for Clinical Genetic Science;The American Society of Human Genetics.

Track 6:Pharmacogenetics

Pharmacogeneticsis the study of inherited genetic differences in drug metabolic pathways which can affect individual responses towards the drugs, both in their terms of therapeutic effect as well as adverse effects. In oncology, Pharmacogenetics historically is the study ofgerm line mutations(e.g., single-nucleotide polymorphisms affecting genes coding forliver enzymesresponsible for drug deposition and pharmacokinetics), whereaspharmacogenomicsrefers tosomatic mutationsin tumoral DNA leading to alteration in drug response.

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Spanish Society OfHuman GeneticsCongress 2017april 25, 2017 - April 28, 2017, madrid , Spain; 8th World Congress onPharmacology, August 07-09, 2017 Paris, France; World Congress onBio therapeutics, May 22-23, 2017, Mexico City, Mexico; 8th World Congress OnPharmacologyAndToxicology, July 24-26, 2017, Melbourne, Australia; German Society Of Human Genetics 28th Annual Meeting, Austrian Society ForHuman GeneticsAnd The Swiss Society OfMedical GeneticsCombined Meeting 2017march 29, 2017 - March 31, 2017 bochum , Germany.

Pharmacogenomics - American Medical Association;Associate Principal Scientist Clinical Pharmacogenetics;European Society of Pharmacogenomics and Personalised Therapy;Genome-wide association studies in pharmacogenomics.

Track 7:Molecular Genetic Pathology

Molecular genetic pathologyis an emerging discipline withinthe pathologywhich is focused in the study and diagnosis of disease through examination of molecules within the organs, tissues or body fluids. A key consideration is more accurate diagnosis is possible when the diagnosis is based on both morphologic changes in tissuestraditional anatomic pathologyand onmolecular testing. Molecular Genetic Pathology is commonly used in diagnosis of cancer and infectious diseases. Integration of "molecular pathology" and "epidemiology" led tointerdisciplinaryfield, termed "molecular pathological epidemiology" (MPE),which representsintegrative molecular biologicand population health science.

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8th World Congress OnMolecular Pathology, June 26-27, 2017 San Diego, USA; 11th International Conference OnSurgical Pathology& Practice, March 27-28, 2017, Madrid, Spain; 13th EuropeanPathologyCongress, Aug 02-03, 2017, Milan, Italy; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; Embo|Embl Symposium: TheMobile Genome: Genetic And Physiological Impacts Of Transposable Elements, Heidelberg, Germany, October 10, 2017.

Clinical Pathology Associates Molecular Pathology; Association mapping Wikipedia;Association for Molecular Pathology(AMP);Molecular Pathology - Association of Clinical Pathologists;SELECTBIO - Molecular Pathology Association of India.

Track 8:Gene Mapping

Genomemappingis to place a collection of molecular markers onto their respective positions ongenome.Molecular markerscome in all forms. Genes can be viewed as one special type of genetic markers in construction ofgenome maps, and the map is mapped the same way as any other markers. The quality ofgenetic mapsis largely dependent upon the two factors, the number of genetic markers on the map and the size of themapping population. The two factors are interlinked, and as larger mapping population could increase the "resolution" of the maps and prevent the map being "saturated". Researchers begin a genetic map by collecting samples of blood or tissue from family members that carry a prominent disease or trait and family members that don't. Scientists then isolate DNA from the samples and closely examine it, looking for unique patterns in the DNA of the family members who do carry the disease that the DNA of those who don't carry the disease don't have. These unique molecular patterns in the DNA are referred to as polymorphisms, or markers.

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3rd WorldBio Summit&Expo, Abu Dhabi, UAE, June 19-21, 2017; 9th International Conference onGenomicsandPharmacogenomicsJune 15-16, 2017 London, Uk; Keystone Symposium: Mononuclear Phagocytes in Health,Immune DefenseandDisease, 304 May 2017, Austin, Texas, USA;Molecular Neurodegeneration(course) Hinxton, Cambridge, UK, January 9-14, 2017;

Association for Clinical Genetic Science;Genome-wide association study Wikipedia;Gene mapping by linkage and association analysis NCBI;Gene mapping by linkage and association analysis | Springer Link.

Track 9:ComputationalGenomics

Computational genomics refers to the use of computational and statistical analysis to decipherbiologyfromgenome sequencesand related data, including DNA and RNA sequence as well as other "post-genomic" data. This computational genomics is also known asComputational Genetics. These, in combination with computational and statistical approaches to understanding the function of the genes and statistical association analysis, this field is also often referred to as Computational and Statistical Genetics/genomics. As such, computational genomics may be regarded as a subset of bioinformatics and computational biology, but with a focus on using whole genomes rather than individual genes to understand the principles of how the DNA of a species controls its biology at the molecular level and beyond. With the current abundance of massive biological datasets, computational studies have become one of the most important means to biological discovery.The field is defined and includes foundations in thecomputer sciences,applied mathematics, animation, biochemistry, chemistry, biophysics,molecular genetics,neuroscienceandvisualization. Computational biology is different from biological computation, which is a subfield of computer engineering using bioengineering and biology to build computers, but is similar tobioinformatics.

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Modeling Viral Infections and Immunity,10. MAY 2017, 14, Estes Park, Colorado, USA;Integrating Metabolism and Immunity(E4)292 June, Dublin, Ireland; EMBL Conference:Mammalian GeneticsandGenomics, Heidelberg, Germany, October 24, 2017; EMBO|EMBL Symposium: The Mobile Genome:GeneticandPhysiological Impacts of Transposable Elements, Heidelberg, Germany, October 10, 2017;

American Association of Bio analysts - Molecular/Genetic Testing;ISCB - International Society for Computational Biology;International Society for Computational Biology Wikipedia;Bioinformatics societies OMICtools;Towards an Australian Bioinformatics Society.

Track 10:Molecular Biotechnology

Molecular Biotechnologyis the use of living systems and organisms to develop or to make products, or "any technological application that uses the biological systems, living organisms or derivatives, to make or modify products or processes for specific use. Molecular biotechnology results from the convergence of many areas of research, such as molecular biology, microbiology, biochemistry, immunology, genetics and cell biology. It is an exciting field fueled by the ability to transfer genetic information between organisms with the goal of understanding important biological processes or creating a useful product. The completion of the human genome project has opened a myriad of opportunities to create new medicines and treatments, as well as approaches to improve existing medicines. Molecular biotechnology is a rapidly changing and dynamic field. As the pace of advances accelerates, its influence will increase. The importance and impact of molecular biotechnology is being felt across the nation. Depending on the tools and applications, it often overlaps with the related fields of bioengineering,biomedical engineering, bio manufacturing andmolecular engineering.Biotechnologyalso writes on the pure biological sciences animalcell culture, biochemistry,cell biology, embryology, genetics, microbiology, andmolecular biology.

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8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; World Congress onBio therapeutics, May 22-23, 2017, Mexico City, Mexico;Human Genome Meeting(HGM 2017), February 5-7 2017, Barcelona, Spain;Integrating MetabolismandImmunity (E4), 292 June, Dublin, Ireland.

Biotech Associations - Stanford University;Indian Society of Genetics, Biotechnology Research & Development;Genetics and Molecular Medicine - American Medical Association;Genetics Society of America | GSA, British Society for Genetic Medicine;Heritability in the Era of Molecular Genetics - Association for Psychological science.

Track 11:Genetic Transformation

Genetic Transformationis the genetic alteration of cell resulting from the direct uptake and incorporation ofexogenous genetic materialfrom its surroundings through thecell membrane. Transformation is one of three processes for horizontal gene transfer, in which exogenous genetic material passes from bacterium to another, the other two being conjugation transfer of genetic material between two bacterial cells in direct contact andTransductioninjection offoreign DNAby a bacteriophage virus into thehost bacterium. And about 80 species of bacteria were known to be capable of transformation, in 2014, about evenly divided betweenGram-positiveandGram-negative Transformation" may also be used to describe the insertion of new genetic material into non-bacterial cells, including animal and plant cells.

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13th EuropeanPathologyCongress, Milan, Italy; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; Embo|Embl Symposium: TheMobile Genome: Genetic And Physiological Impacts Of Transposable Elements, Heidelberg, Germany, October 10, 2017; 2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, Canada; 9th International Conference onGenomicsandPharmacogenomics, June 15-16, 2017 London, Uk;

American Society of Gene & Cell Therapy: ASGCT;Gene Therapy Societies and Patient Organizations - Gene Therapy Net;European Society of Gene and Cell Therapy (ESGCT);British Society for Gene and Cell Therapy;Gene Therapy - American Medical Association.

Track 12:Genetic Screening

Genetic screenis an experimental technique used to identify and select the individuals who possess a phenotype of interest inmutagenized population. A genetic screen is a type ofphenotypic screen. Genetic screen can provide important information on gene function as well as the molecular events that underlie a biological process or pathway. While thegenome projectshave identified an extensive inventory of genes in many different organisms, genetic screens can provide valuable insight as to how thosegenes function.

RelatedMolecular Biology Conferences| Genetics Conferences|Gene Therapy Conferences|Biotechnology Conferences| Immune Cell Therapy Conferences

13th EuropeanPathologyCongress, Aug 02-03, 2017, Milan, Italy; 2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, 27 Canada; 7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; Embo|Embl Symposium: TheMobile Genome: Genetic And Physiological Impacts Of Transposable Elements, Heidelberg, Germany, October 10, 2017, 10 - 13 May 2017, American Society ofGeneandCell Therapy(ASGCT) 20th Annual Meeting, Washington, DC;

Association for Clinical Genetic Science; Association for Molecular Pathology (AMP);Mapping heritability and molecular genetic associations with cortical;Genetics and Molecular Medicine - American Medical Association.

Track 13:Regulation of Gene Expression

Regulation of Gene expressionincludes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA), and is informally termed gene regulation. Sophisticated programs of gene expression are widely observed in biology, Virtually any step of gene expression can be modulated, fromtranscriptional initiation,RNA processing, and post-translational modificationof a protein. Often, one gene regulator controls another in a gene regulatory network. Any step of gene expression may be modulated, from theDNA-RNA transcriptionstep to post-translational modification of a protein.

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7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand; EMBO|EMBL Symposium: The Mobile Genome:GeneticandPhysiological Impacts of Transposable Elements, Heidelberg, Germany, October 10, 2017; 10. MAY 2017, 14, Estes Park, Colorado, USA,Modeling Viral Infections and Immunity; 292 June, Dublin, Ireland,Integrating Metabolism and Immunity(E4); MAY 2017, 14, Estes Park, Colorado, USA,Modeling Viral InfectionsandImmunity; 8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; 9th International Conference onGenomicsandPharmacogenomics, June 15-16, 2017 London, Uk;

Gene Therapy Societies and Patient Organizations - Gene Therapy Net;European Society of Gene and Cell Therapy (ESGCT);British Society for Gene and Cell Therapy;Gene Therapy - American Medical Association

Track 14: Cancer Gene Therapy

Cancer is an abnormal growth of cells the proximate cause of which is an imbalance in cell proliferation and death breaking-through the normal physiological checks and balances system and the ultimate cause of which are one or more of a variety of gene alterations. These alterations can be structural, e.g., mutations, insertions, deletions, amplifications, fusions and translocations, or functional (heritable changes without changes in nucleotide sequence). No single genomic change is found in all cancers and multiple changes (heterogeneity) are commonly found in each cancer generally independent of histology. In healthy adults, the immune system may recognize and kill the cancer cells or allow non-detrimental host-cancer equilibrium; unfortunately, cancer cells can sometimes escape the immune system resulting in expansion and spread of these cancer cells leading to serious life threatening disease. Approaches to cancer gene therapy include three main strategies: the insertion of a normal gene into cancer cells to replace a mutated (or otherwise altered) gene, genetic modification to silence a mutated gene, and genetic approaches to directly kill the cancer cells. Pathway C represents immunotherapy using altered immune cells. Another unique immunotherapy strategy facilitated by gene therapy is to directly alter the patient's immune system in order to sensitize it to the cancer cells. One approach uses mononuclear circulating blood cells or bone marrow gathered from the patient.

RelatedMolecular Biology Conferences| Genetics Conferences|Gene Therapy Conferences|Biotechnology Conferences| Immune Cell Therapy Conferences

8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; World Congress onBio therapeutics, May 22-23, 2017, Mexico City, Mexico;Human Genome Meeting(HGM 2017), February 5-7 2017, Barcelona, Spain;Integrating MetabolismandImmunity (E4), 292 June, Dublin, Ireland.

Biotech Associations - Stanford University;Indian Society of Genetics, Biotechnology Research & Development;Genetics and Molecular Medicine - American Medical Association;Genetics Society of America | GSA, British Society for Genetic Medicine;Heritability in the Era of Molecular Genetics - Association for Psychological science.

Track 15:Genetic Transplantation

Transplantation genetics is the field of biology and medicine relating to the genes that govern the acceptance or rejection of a transplant. The most important genes deciding the fate of a transplanted cell, tissue, or organ belong to what is termed the MHC (the major histocompatibility complex). Genetic Transplantation is the moving of an organ from one body to another or from a donor site to another location on the person's own body, to replace the recipient's damaged or absent organ. Organs and/or tissues that aretransplantedwithin the same person's body are calledauto grafts. Transplants that are recently performed between two subjects of the same species are calledallografts. Allografts can either be from a living or cadaveric source Organs that can be transplanted are the heart, kidneys, liver, lungs, pancreas, intestine, and thymus. The kidneys are the most commonlytransplanted organs, followed by the liver and then the heart. The main function of the MHC antigens is peptide presentation to the immune system to help distinguish self from non-self. These antigens are called HLA (human leukocyte antigens). They consists of three regions: class I (HLA-A,B,Cw), class II (HLA-DR,DQ,DP) and class III (no HLA genes)

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8th World Congress onPharmacology, August 07-09, 2017 Paris, France; International Conference onClinicalandMolecular Genetics, Las Vegas, USA, April 24-26, 2017; Aug 02-03, 2017, 13th EuropeanPathologyCongress, Milan, Italy; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; 7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand.

American society of Transplantation;American Society of Transplant Surgeons: ASTS; Patient associations. Donation and transplantation;American Society of Gene & Cell Therapy ASGCT;Gene Therapy Societies and Patient Organizations - Gene Therapy Net.

Track 16:Cytogenetics

Cytogeneticsis a branch ofgeneticsthat is concerned withstudy of the structure and function of the cell, especially thechromosomes. It includes routine analysis of G-banded chromosomes, othercytogenetic banding techniques, as well as molecular Cytogenetics such as fluorescent in suitable hybridization FISH and comparativegenomic hybridization.

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9thAnnual Meeting onImmunologyandImmunologist, July 03-05, 2017 Kuala Lumpur, Malaysia; 8th MolecularImmunology&ImmunogeneticsCongress, March 20-21, 2017 Rome, Italy; 8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; July 03-05, 2017; B Cells and T Follicular Helper Cells Controlling Long-Lived Immunity (D2), April 2017, 2327, Whistler, British Columbia, Canada.

European Cytogeneticists Association;Association of Genetic Technologists;Association for Clinical Genetic Science;Cytogenetics - Human Genetics Society of Australasia;European Cytogeneticists Association

Molecular Biology 2016

Molecular Biology 2016 Report

2ndWorld Bio Summit & Molecular Biology Expowas organized during October 10-12, 2016 at Dubai, UAE. The conference was marked with the attendance ofEditorial Board Members of supporting journals, Scientists, young and brilliant researchers, business delegates and talented student communities representing more than 25 countries, who made this conference fruitful and productive.

This conference was based on the theme Recent advances in Bio Science which included the following scientific tracks:

Molecular Biology

Microbiology

Analytical Molecular Biology

Bioinformatics

Biochemistry and Molecular Biology

Molecular Biology and Biotechnology

Cancer Molecular Biology

Computational Biology

Molecular Biology of the Cell

Molecular biology of the cardiovascular system

Molecular Biology in Cellular Pathology

Molecular Biology of Diabetes

Molecular Biology and Genetic Engineering

Enzymology and Molecular Biology

Molecular Biology of the Gene

See the article here:
Molecular Genetics - Cell and Gene Therapy Conferences

Researchers say they discovered hundreds of mutations during a gene editing experiment, casting doubt on CRISPR's safety and precision.

CRISPR gene editing technology has tantalized the public with its potential to cure disease.

However, new research suggests it could be more dangerous and less precise than previously believed.

CRISPR-Cas9 was discovered in 2012 by University of California molecular biologist Jennifer Doudna and her colleagues. It allows for genetic editing by snipping out small bits of defective or harmful DNA and replacing it.

Gene editing has existed since the 1970s, but CRISPR-Cas9 has reinvented it as a precise, accessible technology.

The potential applications seem almost limitless.

This year, Dr. Edze Westra of the University of Exeter, told the Independent that he expects the technology to be used to cure all inherited diseases, to cure cancers, to restore sight to people by transplanting genes.

Read more: Scientists find gene editing with CRISPR hard to resist

Still in its infancy, CRISPR-Cas9 has yet to deliver on these promises, in humans anyway.

One of the key talking points of CRISPR-Cas9 has been its precision its ability to accurately edit small sections of DNA without affecting nearby sections.

However, a new study from Columbia University says that CRISPR-Cas9 can introduce hundreds of unexpected mutations into the genome beyond what was intended.

We feel its critical that the scientific community consider the potential hazards of all off-target mutations caused by CRISPR, said co-author Dr. Stephen Tsang, a professor at Columbia University Medical Center, in a press release.

Tsang and his team discovered the mutations while conducting research on mice, using CRISPR-Cas9 to correct a gene that caused blindness.

The technology worked effectively in curing the blindness, but when the researchers later looked at the genome of the mice, they said they found additional, unintended mutations.

Despite this, the mice appeared to be in fine health.

We did not see any observable complications in the mice, despite having all these extra CRISPR-related mutations, Tsang told Healthline.

Sheila Jasanoff, professor of science and technology studies at Harvard University, told Healthline that precision can have a slippery definition in biotechnology.

Genetic engineering was also sold some 40 years ago as a highly precise technique. Now, CRISPR is being heralded as even more precise, she said.

Undoubtedly, there is some truth in that claim ... But we also know from older genetic engineering techniques that very precise interventions into one part of a genome can produce unexpected side effects or off-target impacts that scientists were not expecting, Jasanoff added.

Read more: CRISPR gene editing and cancer treatment

Tsang frames the message of his research in two ways.

First, he hopes that his work will bring a newfound awareness to the potential side effects caused by CRISPR.

Although the mutations he and his team observed did not appear to have any malignant effects, they should be a wake-up call for researchers.

Secondly, Tsang says that no matter what kind of medicine or treatment is being used, there is the potential for side effects.

If we apply CRISPR, its just like any other intervention medicine. There is always off-targeting and risks and benefits, he says.

Jasanoff is more tempered in her assessment of the risk vs. reward of CRISPR.

The assumption that there are untold benefits in store long before the work has been done to establish how a new technology actually will have an impact on any disease is a typical example of the hype that surrounds new and emerging technologies, she said.

Tsangs research offers no hard answers to the larger questions of efficacy, risk, and benefit of using CRISPR on humans.

Lets not go overboard, said Pete Shanks, a consultant who is an expert on genetics. Three blind mice dont prove much.

Tsangs research does provide some cautionary insight into how research must be conducted in order to make the technology safer.

Currently most studies of off-target mutations depend on computer algorithms to locate and examine affected areas. Tsang and his team say that this isnt sufficient when using live specimens.

These predictive algorithms seem to do a good job when CRISPR is performed in cells or tissues in a dish, but whole genome sequencing has not been employed to look for all off-target effects in living animals, Alexander Bassuk, professor of pediatrics at the University of Iowa, and co-author of the study, said in a press release.

Researchers who arent using whole genome sequencing to find off-target effects may be missing potentially important mutations, Tsang said.

Read more: Gene editing could be used to battle mosquito-borne disease

This study comes at an important time.

China has begun its first round of human testing using CRISPR-Cas9.

The United States is due to start its own tests next year.

The research field is moving quickly perhaps too quickly.

We hope our findings will encourage others to use whole genome sequencing as a method to determine all the off-target effects of their CRISPR techniques and study different versions for the safest, most accurate editing, Tsang said.

Jasanoff is much blunter.

We should put aside the notion the benefits of CRISPR are already proven, and all we need to worry about is risks, she said.

Go here to see the original:
Is CRISPR Gene Editing Moving Ahead Too Quickly? - Healthline

Cohen found a receptive audience in Fleck, who was working with UCs former Center for Imaging Research. After all, who better to tackle one of medical sciences hardest problems than a rocket scientist? Cohen, an aerospace engineer, felt up to the task.

Ernest said people should not conflate the technology with its applications. The algorithm he developed is not a sentient being like the villains in the Terminator movie franchise but merely a tool, he said, albeit a powerful one with seemingly endless applications.

I get emails and comments every week from would-be John Connors out there who think this will lead to the end of the world, Ernest said.

Ernests company created EVE, a genetic fuzzy AI that specializes in the creation of other genetic fuzzy AIs. EVE came up with a predictive model for patient data called the LITHium Intelligent Agent or LITHIA for the bipolar study.

This predictive model taps into the power of fuzzy logic to allow you to make a more informed decision, Ernest said.

And unlike other types of AI, fuzzy logic can describe in simple language why it made its choices, he said.

The researchers teamed up with Dr. Caleb Adler, the UC Department of Psychiatry and Behavioral Neuroscience vice chairman of clinical research, to examine bipolar disorder, a common, recurrent and often lifelong illness. Despite the prevalence of mood disorders, their causes are poorly understood, Adler said.

Really, its a black box, Adler said. We diagnose someone with bipolar disorder. Thats a description of their symptoms. But that doesnt mean everyone has the same underlying causes.

Selecting the appropriate treatment can be equally tricky.

Over the past 15 years there has been an explosion of treatments for mania. We have more options. But we dont know who is going to respond to what, Adler said. If we could predict who would respond better to treatment, you would save time and consequences.

With appropriate care, bipolar disorder is a manageable chronic illness for patients whose lives can return to normal, he said.

View post:
AI used to treat bipolar disorder in an app that could revolutionize medicine - ScienceBlog.com (blog)

Jun.09.2017 / 11:36 AM ET

A lot has changed in medicine since the first human organ a kidney was successfully transplanted into another human in 1954. But one part of the transplant process that hasn't changed much since then is how the organ is delivered from donor to recipient. Basically, organs still travel via cooler.

An organ first gets taken out of the donor and flushed with a cold salt solution (that includes preservatives to help keep the organ viable for transplant). Its then put on ice and sent to a hospital where the recipient is waiting, explains Dr. David Klassen, chief medical officer of the United Network for Organ Sharing, the private non-profit that manages the organ transplant system in the United States.

The technology thats currently widely in use has really been in place for close to 50 years now, Klassen says.

But that standard is about to change. New devices now make it possible to keep donor organs in a functioning state at body temperature while theyre being transported to the recipient.

The new technology makes it possible to monitor an organs health more closely before its transplanted, which means doctors can better predict whether an organ will function properly in the new body. And the new technique called ex vivo warm perfusion makes it possible to keep donated organs outside of a human body for longer periods of time, so they can be sent farther distances to waiting recipients.

The time constraints imposed by organ preservation are a fundamental limitation in the current organ allocation system, Klassen says.

Related: Self-Driving Cars Will Create an Organ Shortage Can Science Meet the Demand?

Organs start to deteriorate as soon as theyre removed from the donor and put on ice so when theyre shipped cold, after a certain amount of time they are no longer viable to be put into a waiting recipient. Kidneys can last up to 36 hours on ice, so they can be shipped widely via car, helicopter, or plane. But hearts and lungs can only be kept out of the body for about four to six hours.

You typically cannot send a heart from Los Angeles to New York, Klassen says.

This technology will allow for significantly more donated organs to be delivered in time for a transplant, he explains. The system will be more successful, fair, and efficient.

The new warm storage devices are already being used in Europe, Canada, Australia, and elsewhere for kidney, heart, lung, and liver transplants. And the Organ Care System for lung transplants the first device of this kind is currently up for FDA approval in the U.S.

New devices like TransMedics' Organ Care System the so-called beating heart in a box work by pumping a donor organ with warm, oxygenated, and nutrient-enriched blood. The Organ Care System is about waist-height and is made out of carbon fiber. The whole thing sits on a four-wheeled cart for easy transport. Its equipped with an oxygen tank, a supply of blood, batteries, and special electric and mechanical equipment to monitor the organ, as well as a transparent, sterile plastic box (specific to each organ type) that houses the donor organ during delivery, keeping it at the right temperature and humidity levels.

The organ believes that its still in the body, says Dr. Waleed Hassanein, president and CEO of TransMedics, the Andover, Mass.-based medical device company thats developing the Organ Care System. The heart is beating, he says. The lung is breathing. The liver is making bile. The kidneys are making urine.

Because the organs are functioning during transport, doctors can monitor the organs and in some cases improve their health, Hassanein adds. Antibiotics can be delivered to an organ to prevent or treat an infection. Clinicians can inflate sections of a donor lung that have collapsed to optimize lung capacity.

In the future it may be possible to apply new fields of research gene therapy or regenerative medicine to actually improve organs before a transplant, Hassanein says. It opens up a huge area of scientific and clinical innovation.

Currently, TransMedics perfusion devices for heart, lung, and liver transplants have been approved for use in Europe, Canada, and Australia. The company is sponsoring five U.S. clinical trials for its devices and it currently has a perfusion device for kidney transplants in development. More than 815 successful human organ transplants have been performed using TransMedics perfusion devices so far.

The heart is beating. The lung is breathing. The liver is making bile. The kidneys are making urine.

Several other companies, including OrganOx, XVIVO Perfusion, and Organ Assist are making warm organ storage devices abroad. Here in the U.S., Lung Bioengineering in Silver Spring, Md. is developing similar devices. And Revai, a New Haven, Conn.- based company founded by scientists from Yale Universitys School of Medicine and School of Engineering and Applied Sciences, is using the technology to develop a warm organ transport device for small intestine transplants.

Were seeing this technology transform the entire field as we speak, Hassanein says. Theres not enough data yet to quantify exactly how many more organs this technology will help be transplanted in the near future, but Hassanein suspects it could as much as double or triple the number of successful procedures.

Related: The Quest to Create Artificial Blood May Soon Be Over

UNOS is currently strategizing how to incorporate the new technology into its organ allocation systems, Klassen says. The machines are expensive and it will take some time for these systems to be rolled out, but Klassen expects these devices to be used extensively within the next few years. Its the patients on organ transplant waiting lists that will benefit in big and noticeable ways, he adds

The new devices will allow more organs to be transplanted into recipients who currently often wait many years before receiving a transplant (and some who never do), Klassen says. And its going to allow [transplanted organs] to function better and for longer periods of time.

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'Beating Heart in a Box' Promises Major Revolution in Medical Care - NBCNews.com

Friday, June 09, 2017 7:04 a.m. EDT

By Julie Steenhuysen

CHICAGO (Reuters) - New cancer drugs that target genetic mutations regardless of where the tumor is growing should expand the practice of testing patients for such glitches, oncology experts say.

Such "tumor-agnostic" drugs from companies including Merck & Co and Loxo Oncology may help overcome misgivings by health insurers, who have balked at covering large-scale tests looking for genetic mutations in tumors, and quell concerns of some top cancer doctors who question whether enough patients benefit from such tests.

Last month, Merck's immunotherapy Keytruda became the first cancer treatment ever to win U.S. approval based on whether the tumor carried a specific genetic glitch, irrespective of the tumor's location.

More recently, Loxo showed that its drug larotrectinib helped shrink tumors in 76 percent of patients with a wide variety of advanced cancers who carried a specific genetic defect.

The surprising results suggested a benefit of testing many patients for the same defects.

"Insurance companies had an easy out" before the Merck approval and Loxo data, said Dr. David Hyman of Memorial Sloan Kettering Cancer Center in New York. Hyman presented the Loxo results at the American Society of Clinical Oncology annual meeting last weekend.

"They have asked, 'Show me the evidence this helps patients.' It didn't exist," he said. "Now we have these data."

A second company, Ignyta Inc, has developed a drug that targets the same genetic glitch as Loxos larotrectinib, and both treatments are under expedited review by U.S. regulators.

At the U.S. Food and Drug Administration, cancer chief Dr. Richard Pazdur said he is "very supportive" of the tumor-agnostic approach and believes more such approvals are likely.

"What we're seeing is the result of a lot of work that has been done to determine how these drugs work," Pazdur told Reuters.

Such evidence may begin to sway insurers, but it's not clear how quickly. Aetna Inc said it is studying the Keytruda approval and will base its decision about testing based on the medical evidence and whether the treatments improve quality, reduce waste and provide members with access to affordable care.

Dr. Jeffrey Hankoff of Cigna Inc said the company "generally does not cover multi-gene panels" unless they are recommended by the National Comprehensive Cancer Network, a nonprofit group that sets cancer treatment guidelines.

"Ultimately, it's a matter of having actionable information from genetic testing that is based on evidence, not on conjecture," Hankoff said.

ENTHUSIASM WANING

In 2001, Novartis drug Gleevec transformed the treatment of chronic myelogenous leukemia (CML) from a fatal blood cancer to a treatable condition for most patients. The drug takes aim at a single genetic defect, raising hopes for a new age of targeted drugs that work better and more safely than traditional chemotherapy. Since then, gene sequencing has become exponentially faster and cheaper. Five years ago, companies such as Foundation Medicine introduced genetic profiling tests that look for a range of cancer-causing genes to match patients to a handful of targeted drugs for lung, skin and breast cancer or to clinical trials testing new agents.

Many doctors have embraced the practice, hoping to find a treatment for patients with advanced cancers who were out of options. But insurers have been slow to pay for the tests, which cost $1,000 to $5,000 and can result in the off-label use of targeted drugs with no evidence that they work.

In late 2015, a randomized trial showed such testing yielded no survival advantage compared with conventional therapy. The finding triggered a fierce debate in medical journals, with some experts questioning whether hype has gotten ahead of the science.

"There are patients that benefit, but it's very much a minority of the patients," said Dr. Scott Kopetz, a colorectal cancer specialist at the University of Texas MD Anderson Cancer Center.

Hyman argues that the Keytruda approval based on a single genetic defect "changed the field overnight" and will gain momentum with the likely approval of larotrectinib, which targets a defect called TRK fusions.

Experts estimate up to 1 percent of all cancer patients have TRK fusions.

Dr. John Heymach, an oncologist from MD Anderson Cancer Center in Texas who was not involved in the Loxo study, said it underlines "the importance of expanding what we're looking for."

(Reporting by Julie Steenhuysen; Editing by Michele Gershberg and Cynthia Osterman)

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'Tumor agnostic' cancer drugs seen boosting wider genetic tests - WHTC

Heart disease kills more than 600,000 Americans every year, which translates to more than one in every four deaths. Although lifestyle choices contribute to the disease, genetics play a major role. This genetic facet has remained largely mysterious. But new research by scientists at the University of Maryland School of Medicine (UMSOM) has identified what may be a key player: a mutated gene that leads to irregular heartbeat, which can lead to a dangerously inefficient heart.

The findings were published June 7 in the journal Science Advances. The senior author of the study, Aikaterini Kontrogianni-Konstantopoulos, PhD, is a professor of biochemistry and molecular biology at UMSOM.

The study is the first to illuminate details of how this particular gene, which is called OBSCN, works in heart disease. The gene produces proteins known as obscurins, which seem to be crucial to many physiologic processes, including heart function.

University of Maryland School of Medicine Professor Aikaterini Kontrogianni-Konstantopoulos, PhD, studies the OBSCN gene and obscurin proteins.

This study gives us new information about the involvement of obscurins in the mechanics of heart disease, said Kontrogianni-Konstantopoulos. It suggests that people carrying a mutated version of OBSCN may develop heart disease.

For almost two decades, Kontrogianni-Konstantopoulos has been studying the OBSCN gene and obscurin proteins. Research has found that the gene is often mutated; some of these mutations may play a role in heart disease and certain cancers. She and her colleagues have recently shown that one mutation may play a role in the development of congenital heart disease. However, the cell processes that are affected by the OBSCN mutation have remained largely a mystery.

In this latest study, Kontrogianni-Konstantopoulos and her team unraveled this question. They focused on a mutation that has been linked to an enlarged heart, also known as hypertrophic cardiomyopathy. In this condition, the heart muscle becomes thickened and scarred, and has trouble pumping blood. She created a strain of mouse that carries the mutation, and then divided the animals into three groups: a group that experienced no stress, one that experienced moderate stress, and one that experienced significant stress.

She found that animals in the no-stress group developed irregular heartbeat, also known as arrhythmia. The mildly stressed animals developed thickened hearts, and the severely stressed animals developed hearts that were scarred and ineffective.

Kontrogianni-Konstantopoulos is one of several scientists who first discovered OBSCN in 2001. Prior to that it was all but unknown, hence its name. Since then, she has studied the gene, focusing on its role in both heart disease and cancer. She currently has several other ongoing studies of its effects in both heart disease and cancer.

It is not clear exactly how the mutated OBSCN gene causes heart problems. Her study is the first one to examine this question in relation to the obscurin mutations. She and her colleagues found evidence that the particular mutation they focused on may affect the ability of a protein called phospholamban to regulate the movement of calcium in heart muscle cells; this movement plays a crucial role in controlling how the heart contracts and relaxes. If this process goes awry, the heart does not function properly.Kontrogianni-Konstantopoulos says this work could eventually lead to targeted therapies for people who have OBSCN mutations.

Heart disease is one of our most urgent national health issues, said UMSOM Dean E. Albert Reece, MD, PhD, MBA, who is also the vice president for medical affairs, University of Maryland, and the John Z. and Akiko K. Bowers Distinguished Professor. Dr. Kontrogianni-Konstantopoulos has elucidated this new aspect of the molecular basis of at least some cardiovascular illness. I look forward to seeing what she and others do to further build on this new discovery.

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Study: Mutated Gene Tied to Irregular Heartbeat - UMB News

MONDAY, June 5, 2017 (HealthDay News) -- Two drugs that target genetic flaws are giving people with specific types of advanced lung cancer a chance to live longer and better, a pair of new clinical trials finds.

A newly approved drug called alectinib (Alecensa) works twice as long as the current standard medication in halting cancer growth in patients with ALK-positive non-small cell lung cancer, results from a new global clinical trial show.

ALK is a gene that produces a protein that helps cancer cells grow and spread, according to the American Cancer Society (ACS).

In another study, an experimental drug called dacomitinib delayed cancer growth by about half in non-small cell lung cancer patients who had a mutation of the epidermal growth factor receptor (EGFR) that caused cancer cells to grow faster, a second trial reported. Non-small cell lung cancers comprise most lung cancer cases.

EGFR is a substance normally found on cells that helps them grow and divide, the ACS says.

The drugs, alectinib in particular, will let people live months or years longer just by taking a daily pill, said Dr. Bruce Johnson, chief clinical research officer at Dana-Farber Cancer Institute in Boston. Johnson is also incoming president of the American Society of Clinical Oncology (ASCO).

Alectinib works more than a year longer than crizotinib (Xalkori), which itself supplanted chemotherapy a few years back because it proved more effective with fewer side effects, Johnson said.

"This is kind of a game changer, because the drug itself works at least for two years, plus there are other treatments" that can be substituted when it ultimately becomes ineffective, Johnson said of alectinib. "We used to have to tell these patients 10 or 15 years ago that you've got eight months to a year. Now they most likely have years."

Both of these genetically driven forms of lung cancer are more common in nonsmokers, the ACS says.

The studies were both funded by the drug manufacturers. Hoffmann-La Roche funded the alectinib study. Pfizer and SFJ Pharmaceuticals Group funded the dacomitinib study.

The first clinical trial revealed that alectinib halts lung cancer growth for about 26 months on average. That compared to about 10 months on average for crizotinib, the drug now used as front-line treatment for ALK-positive patients.

Alectinib also works 84 percent better than crizotinib at preventing spread of advanced lung cancer to the brain, because it is better able to penetrate into the brain and kill cancer cells there, said lead researcher Dr. Alice Shaw, director of thoracic oncology at Massachusetts General Hospital Cancer Center in Boston.

About 5 percent of non-small cell lung cancer cases are ALK-positive. That means they have a genetically abnormal protein that fuels cancer growth. In the United States, about 12,500 people are diagnosed with ALK-positive non-small cell lung cancer each year, researchers said in background information.

Alectinib already is approved in the United States as a treatment for ALK-positive patients who no longer respond to crizotinib, Shaw said.

The results should "establish alectinib as the new standard of care" for ALK-positive lung cancer patients, rather than crizotinib, Shaw said.

ASCO expert Dr. John Heymach agreed, calling the clinical trial a "watershed moment."

Not only did the drug work better and longer, but it also produced fewer side effects in patients, noted Heymach, chair of thoracic/head and neck oncology for the University of Texas MD Anderson Cancer Center in Houston.

The most common side effects for alectinib were fatigue, constipation, muscle aches and swelling, while crizotinib patients most often suffered from gastrointestinal problems and liver enzyme abnormalities, according to the researchers.

The second clinical trial compared a new drug, dacomitinib, to the current standard targeted drug gefitinib (Iressa) in treating EGFR-positive lung cancer.

Each year about 15,000 people in the United States are diagnosed with EGFR-positive lung cancer, which involve mutations that increase the growth of cancer cells, researchers said in background notes.

Dacomitinib blocked EGFR mutations more effectively than first-generation drug gefitinib, providing a 41 percent lower chance of cancer progression or death, researchers found. On average, dacomitinib halted cancer growth for 14.7 months in patients, compared with 9.2 months with gefitinib.

"From the perspective of doctors who treat lung cancer daily, this is really a substantial advance," Heymach said, noting that the results put the drug "at the front of the pack in terms of efficacy."

However, dacomitinib also created more side effects, including acne in about 14 percent of patients and diarrhea in 8 percent of patients. Doctors wound up reducing the dosage in about 66 percent of patients as a result of side effects, said lead researcher Dr. Tony Mok, chair of clinical oncology at the Chinese University of Hong Kong.

Heymach said the side effects are "not life-threatening toxicities."

"These are toxicities that doctors who treat this for a living become accustomed to managing," Heymach said.

"At the end of the day, I think we now have one additional choice" in treating EGRF-positive non-small cell lung cancer, Mok concluded, adding that dacomitinib should be considered as a new first-line alternative treatment. The drug has not received FDA approval.

Neither of the tested drugs will be cheap. "Almost all these targeted drugs are thousands of dollars per month," Johnson said.

The results of both trials were scheduled to be presented Monday at ASCO's annual meeting, in Chicago. The findings were also being published June 6 in the New England Journal of Medicine.

More here:
Gene-Targeted Drugs Fight Advanced Lung Cancers - Montana Standard

June 8, 2017 Hair thinning in a human patient and mouse with inherited loss of function mutations in WNT10A is shown. Credit: Michael Passanante and Mingang Xu, PhD

It is almost axiomatic in medicine that the study of rare disorders informs the understanding of more common, widespread ailments. Researchers from the Perelman School of Medicine at the University of Pennsylvania who study an inherited disorder of skin, hair follicles, nails, sweat glands, and teeth called hypohidrotic ectodermal dysplasia (HED) have identified a mechanism that may also be disrupted in male pattern baldness, a more common condition. They published their findings this week in Nature Communications.

About one in 5,000 to 10,000 people are thought to have HED, although this may be an underestimate of its actual prevalence as this condition is not always diagnosed correctly. HED is most frequently caused by mutations in the EDA, EDAR, EDARRAD and WNT10A genes. In addition to its association with HED, mutations in WNT10A are the most common genetic defect observed in people who are born missing one or more teeth, but do not display other characteristics of the disease. These milder WNT10A mutations occur surprisingly frequently, in about 1 to 2 percent of the population. Interestingly, a variant of the WNT10A gene associated with lower levels of its protein's expression has been linked to a greater likelihood of male pattern baldness, according to a recent genome-wide association study.

"By analyzing mice with the WNT10A mutation, as well as tissues from human patients with WNT10A mutations, we found that WNT10A regulates the proliferation, but not the maintenance, of stem cells in hair follicles," said Sarah Millar, PhD, vice chair for Basic Research in the Department of Dermatology. "Together with a previously published genome-wide association study, our findings suggest that lower levels of WNT10A may contribute to male pattern baldness in some individuals."

The team made mouse models for WNT10A-associated HED by deleting the Wnt10a gene. The mutant mice displayed the same symptoms as HED patients with severe loss of function mutations in the WNT10A gene. Long-term absence of WNT10A leads to miniaturization of hair follicle structures and enlargement of the associated sebaceous glands, a phenomenon that is also observed in male pattern baldness.

Millar's group and her clinical collaborators, including Emily Chu, MD, PhD, an assistant professor of Dermatology and John McGrath, MD, from King's College, London, also discovered that cracking and scaling of palm and foot sole skin in WNT10A patients is due to decreased expression of a structural protein called Keratin 9, which is specifically expressed in these regions of skin and contributes to its mechanical integrity.

"Our studies took us back and forth between human patients and our mouse model," said Millar. "Our goal was to find what happened to cellular components affected by the WNT10A mutation to make better treatments."

Millar's group showed that decreased proliferation and Keratin 9 expression in the absence of WNT10A resulted from failure of signaling through a well-characterized pathway that stabilizes a protein called beta-catenin, allowing it to enter the cell nucleus and activate gene transcription.

These findings indicate that small molecule drugs that activate the beta-catenin pathway downstream of WNT10A could potentially be used to treat hair thinning and palm and sole skin defects in WNT10A patients. These agents may also be useful for preventing hair loss in a subgroup of people with male pattern baldness.

Explore further: Study of 52,000 men uncovers the genetics underlying male pattern baldness

A genomic study of baldness identified more than 200 genetic regions involved in this common but potentially embarrassing condition. These genetic variants could be used to predict a man's chance of severe hair loss. The ...

UT Southwestern Medical Center researchers have identified the cells that directly give rise to hair as well as the mechanism that causes hair to turn gray findings that could one day help identify possible treatments ...

A pathway known for its role in regulating adult stem cells has been shown to be important for hair follicle proliferation, but contrary to previous studies, is not required within hair follicle stem cells for their survival, ...

By the time they turn 50, half of European men have some degree of hair loss. For many, it will begin far earlier than that, and yet male pattern baldness is poorly understood.

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It is almost axiomatic in medicine that the study of rare disorders informs the understanding of more common, widespread ailments. Researchers from the Perelman School of Medicine at the University of Pennsylvania who study ...

Heart disease kills more than 600,000 Americans every year, which translates to more than one in every four deaths. Although lifestyle choices contribute to the disease, genetics play a major role. This genetic facet has ...

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Inherited, rare skin disease informs treatment of common hair disorders, study finds - Medical Xpress

Certain polymorphisms in mannose-binding lectin (MBL) and toll-like receptors (TLRs), genes that have a role in the innate immune system, promote susceptibility to or protection against respiratory and rhinovirus infections and acute otitis media (AOM), according to a study in Finnish infants.

Researchers followed 923 children from birth to age 2 years for respiratory infections, relying primarily on daily parental diaries. When respiratory symptoms developed, investigators obtained nasal swabs, on which polymerase chain reaction and antigen tests were performed to detect respiratory viruses. Nasal swabs also were collected during scheduled visits at 2, 13, and 24 months, and blood samples were obtained when the infants were 2 months old. Investigators recorded almost 4000 episodes of acute respiratory infections, with rhinovirus the sole agent in 59%.

Next: Families detect errors hospital incident reports miss

Of the study children, about one-third had variant types of MBL; more than half had variants of TLR3 and TLR8, with smaller proportions having variants of TLR2, TLR4, and TLR7. The MBL polymorphisms were associated with an increased number of days per year with symptoms of respiratory infection and with an increased risk of rhinovirus-associated AOM. The TLR8 polymorphisms were tied to an increased risk of recurrent rhinovirus and the TLR2 variants with recurrent AOM, whereas TLR7 polymorphisms decreased the risk of recurrent rhinovirus infections (Toivonen L, et al. Pediatr Infect Dis J. 2017;36[5]:e114-e122).

Thoughts from Dr Burke

Dr Barton Childs, the late, legendary Johns Hopkins geneticist, was well known for asking at every case conference: Why does this child have this condition at this time? Studies like this one bring us closer to being able to answer Dr Childs question.

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Gene variants relate to risk of respiratory infections and AOM - ModernMedicine

MONDAY, June 5, 2017 (HealthDay News) -- Genetically tuning a person's own immune cells to target cancer appears to provide long-lasting protection against a blood cancer called multiple myeloma, an early trial from China shows.

The treatment, called CAR T-cell therapy, caused 33 out of 35 patients with recurring multiple myeloma to either enter full remission or experience a significant reduction in their cancer.

The results are "impressive," said Dr. Len Lichtenfeld, deputy chief medical officer for the American Cancer Society.

"These are patients who have had prior treatment and had their disease return, and 100 percent of the patients are reported to have had some form of meaningful response to these cells that were administered," Lichtenfeld said.

The new therapy is custom-made for each patient. Doctors collect the patient's own T-cells -- one of the immune system's main cell types -- and genetically reprogram them to target and attack abnormal multiple myeloma cells.

Lead researcher Dr. Wanhong Zhao likened the process to fitting immune cells with a GPS that steers them to cancer cells -- making them into professional killers that never miss their target.

Zhao is associate director of hematology at the Second Affiliated Hospital of Xi'an Jiaotong University in Xi'an, China.

CAR T-cell therapy is promising because the genetically altered T-cells are expected to roost in a person's body, multiplying and providing long-term protection, Lichtenfeld said.

"The theory is they should attack the tumor and continue to grow to become a long-term monitoring and treatment system," Lichtenfeld said. "It's not a one-shot deal."

The technology represents the next step forward in immunotherapy for cancer, said Dr. Michael Sabel, chief of surgical oncology at the University of Michigan.

"Immunotherapy is now really providing hope to a lot of patients with cancers that were not really responding to our standard chemotherapies," Sabel said.

CAR T-cell therapy previously has been used to treat lymphoma and lymphocytic leukemia, Lichtenfeld said.

Zhao and his colleagues decided to try the therapy to treat multiple myeloma. They re-engineered the patients' T-cells and then reintroduced them to the body in three infusions performed within one week.

Multiple myeloma is a cancer that occurs in plasma cells, which are mainly found in bone marrow and produce antibodies to fight infections. About 30,300 people will likely be diagnosed with multiple myeloma this year in the United States, researchers said in background notes.

"Multiple myeloma is a disease that historically was fatal in the course of a couple of years," Lichtenfeld said. During the past two decades, new breakthroughs have extended survival out 10 to 15 years in some patients, he noted.

To date, 19 of the first 35 Chinese patients have been followed for more than four months, researchers report.

Fourteen of those 19 patients have reached the highest level of remission, researchers report. There hasn't been a relapse among any of these patients, including five followed for more than a year.

"That's as far as you can go in terms of driving down the amount of tumor that's in the body," Lichtenfeld said.

Out of the remaining five patients, one experienced a partial response and four a very good response, researchers said.

However, about 85 percent of the patients experienced cytokine release syndrome (CRS), a potentially dangerous side effect of CAR T-cell therapy.

Symptoms of cytokine release syndrome can include fever, low blood pressure, difficulty breathing, and impaired organ function, the researchers said. However, most of the patients experienced only transient symptoms, and "now we have drugs to treat it," Lichtenfeld said.

History suggests the therapy will cost a lot if it receives approval, Lichtenfeld said. However, prior to approval, much more research will be needed, he added.

The Chinese research team plans to enroll a total of 100 patients in this clinical trial at four hospitals in China. They also plan a similar clinical trial in the United States by 2018, Zhao said.

The study was funded by Nanjing Legend Biotech Co., the Chinese firm developing the technology.

The findings were presented Monday at the American Society of Clinical Oncology annual meeting, in Chicago. Data and conclusions presented at meetings are usually considered preliminary until published in a peer-reviewed medical journal.

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Gene-Based Therapy May Thwart a Tough Blood Cancer - Sioux City Journal