Bookshelf

A collection of biomedical books that can be searched directly or from linked data in other NCBI databases. The collection includes biomedical textbooks, other scientific titles, genetic resources such as GeneReviews, and NCBI help manuals.

A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information intheNIH Genetic Testing Registry (GTR),MedGen,Gene,OMIM,PubMedand other sources is accessible through hyperlinks on the records.

A registry and results database of publicly- and privately-supported clinical studies of human participants conducted around the world.

An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

An open, publicly accessible platform where the HLA community can submit, edit, view, and exchange data related to the human major histocompatibility complex. It consists of an interactive Alignment Viewer for HLA and related genes, an MHC microsatellite database, a sequence interpretation site for Sequencing Based Typing (SBT), and a Primer/Probe database.

A searchable database of genes, focusing on genomes that have been completely sequenced and that have an active research community to contribute gene-specific data. Information includes nomenclature, chromosomal localization, gene products and their attributes (e.g., protein interactions), associated markers, phenotypes, interactions, and links to citations, sequences, variation details, maps, expression reports, homologs, protein domain content, and external databases.

A collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Summaries of information for selected genetic disorders with discussions of the underlying mutation(s) and clinical features, as well as links to related databases and organizations.

A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

A database of known interactions of HIV-1 proteins with proteins from human hosts. It provides annotated bibliographies of published reports of protein interactions, with links to the corresponding PubMed records and sequence data.

A compilation of data from the NIAID Influenza Genome Sequencing Project and GenBank. It provides tools for flu sequence analysis, annotation and submission to GenBank. This resource also has links to other flu sequence resources, and publications and general information about flu viruses.

A portal to information about medical genetics. MedGen includes term lists from multiple sources and organizes them into concept groupings and hierarchies. Links are also provided to information related to those concepts in the NIH Genetic Testing Registry (GTR), ClinVar,Gene, OMIM, PubMed, and other sources.

A project involving the collection and analysis of bacterial pathogen genomic sequences originating from food, environmental and patient isolates. Currently, an automated pipeline clusters and identifies sequences supplied primarily by public health laboratories to assist in the investigation of foodborne disease outbreaks and discover potential sources of food contamination.

A database of human genes and genetic disorders. NCBI maintains current content and continues to support its searching and integration with other NCBI databases. However, OMIM now has a new home at omim.org, and users are directed to this site for full record displays.

A database of citations and abstracts for biomedical literature from MEDLINE and additional life science journals. Links are provided when full text versions of the articles are available via PubMed Central (described below) or other websites.

A digital archive of full-text biomedical and life sciences journal literature, including clinical medicine and public health.

A collection of clinical effectiveness reviews and other resources to help consumers and clinicians use and understand clinical research results. These are drawn from the NCBI Bookshelf and PubMed, including published systematic reviews from organizations such as the Agency for Health Care Research and Quality, The Cochrane Collaboration, and others (see complete listing). Links to full text articles are provided when available.

A collection of resources specifically designed to support the research of retroviruses, including a genotyping tool that uses the BLAST algorithm to identify the genotype of a query sequence; an alignment tool for global alignment of multiple sequences; an HIV-1 automatic sequence annotation tool; and annotated maps of numerous retroviruses viewable in GenBank, FASTA, and graphic formats, with links to associated sequence records.

A summary of data for the SARS coronavirus (CoV), including links to the most recent sequence data and publications, links to other SARS related resources, and a pre-computed alignment of genome sequences from various isolates.

An extension of the Influenza Virus Resource to other organisms, providing an interface to download sequence sets of selected viruses, analysis tools, including virus-specific BLAST pages, and genome annotation pipelines.

Originally posted here:
Genetics & Medicine - Site Guide - NCBI

Welcome to The Journal of Gene Medicine Clinical Trial site, the most comprehensive source of information on worldwide gene therapy clinical trials available on the internet.

From this page you may access the following:

Charts and Tables

Charts and tables showing the number of approved, ongoing or completed clinical trials worldwide. Data is available for:

Interactive Database

A database with detailed information on individual trials. Data search is available for:

The data were compiled and are regularly updated from official agency sources (RAC, GTAC etc..), the published literature, presentations at conferences and from information kindly provided by investigators or trial sponsors themselves.

Information on the trials performed in the United States is derived directly from the OBA/RAC website. Elsewhere, the information is not so readily available. and in some countries regulatory agencies simply do not disclose any information.

Consequently, information on some trials is incomplete. We have adopted as standard procedure the inclusion of all trials where the country and disease addressed is known, even if no other details are available. While it is not entirely satisfactory to have information missing on the type of gene used and the vector etc..., it does have the advantage of providing a more accurate overview of the real number of trials and where they are being performed.

Your input is valuable in assisting us to provide a comprehensive, accurate and up-to-date information service to the gene therapy community. If you are sponsoring or conducting a trial, or if the information on your trial is incomplete, please contact us at

Follow this link:
Gene Therapy Clinical Trials Worldwide - A B E D I A

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Dec. 8, 2015

Academies Consensus Study on Human Gene Editing Begins; First Data-Gathering Meeting Feb. 11-12, 2016

WASHINGTON -- Following the Dec. 1-3 International Summit on Human Gene Editing, the National Academy of Sciences and National Academy of Medicine are now moving forward with the second component of the Academies Human Gene Editing Initiative: a comprehensive study of the scientific underpinnings of human gene-editing technologies, their potential use in biomedical research and medicine -- including human germline editing -- and the clinical, ethical, legal, and social implications of their use.

The study committee will be co-chaired by Alta Charo, the Warren P. Knowles Professor of Law and Bioethics at the University of Wisconsin, Madison, and Richard Hynes, the Daniel K. Ludwig Professor for Cancer Research at the Massachusetts Institute of Technology and Howard Hughes Medical Institute Investigator. Hynes and Charo served on the committee that developed the Academies 2005 guidelines on stem cell research.

The new study committee began its information-gathering process by attending the December summit. Over the next year, it will perform its own independent, in-depth, and comprehensive review of the science and policy of human gene editing by reviewing the literature and holding data-gathering meetings in the U.S. and abroad to solicit broad input from researchers, clinicians, policymakers, and the public. The committee will also monitor in real-time the latest scientific achievements of importance in this rapidly developing field. Finally, while informed by the statement issued by the organizing committee for the international summit, the study committee will have broad discretion to arrive at its own findings and conclusions, which will be released in a peer-reviewed consensus report. Expected to be completed late in 2016, the report will represent the official views of the NAS and NAM.

The study committee has been tasked with addressing the following questions:

1. What is the current state of the science of human gene editing, and what are possible future directions and challenges to further advances in this research?

2. What are the potential clinical applications that may hold promise for the treatment of human diseases? What alternative approaches exist?

3. What is known about the efficacy and risks of gene editing in humans, and what research might increase the specificity and efficacy of human gene editing while reducing risks? Will further advances in gene editing introduce additional potential clinical applications while reducing concerns about patient safety?

4. Can or should explicit scientific standards be established for quantifying off-target genome alterations and, if so, how should such standards be applied for use in the treatment of human diseases?

5. Do current ethical and legal standards for human subjects research adequately address human gene editing, including germline editing? What are the ethical, legal, and social implications of the use of current and projected gene-editing technologies in humans?

6. What principles or frameworks might provide appropriate oversight for somatic and germline editing in humans? How might they help determine whether, and which applications of, gene editing in humans should go forward? What safeguards should be in place to ensure proper conduct of gene-editing research and use of gene-editing techniques?

7. Provide examples of how these issues are being addressed in the international context. What are the prospects for harmonizing policies? What can be learned from the approaches being applied in different jurisdictions?

The NAS/NAM study committees report will provide a framework based on fundamental, underlying principles that may be adapted by any nation considering the development of guidelines for human gene-editing research, with a focus on advice for the U.S.

The committees next meeting is scheduled for Feb. 11-12, 2016, in Washington, D.C. It will include sessions open to the public. A committee roster follows. For more information, visit http://nationalacademies.org/gene-editing/consensus-study/index.htm.

The National Academy of Sciences and the National Academy of Medicine are private, nonprofit institutions that provide independent, objective analysis and advice to the nation to solve complex problems and inform public policy decisions related to science and medicine. The Academies operate under an 1863 congressional charter to the National Academy of Sciences, signed by President Lincoln.

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Committee on Human Gene Editing: Scientific, Medical, and Ethical Considerations

R. Alta Charo (co-chair)

Warren P. Knowles Professor of Law and Bioethics

School of Law and School of Medicine and Public Health

University of Wisconsin

Madison

Richard O. Hynes (co-chair)

Investigator

Howard Hughes Medical Institute; and

Daniel K. Ludwig Professor for Cancer Research

Koch Institute for Integrative Cancer Research

Massachusetts Institute of Technology

Cambridge

David W. Beier

Managing Director

Bay City Capital

San Francisco

Juan Carlos I. Belmonte

Professor

Gene Expression Laboratories

Salk Institute for Biological Studies

La Jolla, Calif.

Ellen W. Clayton

Craig Weaver Professor of Pediatrics and

Professor of Law

Vanderbilt University

Nashville, Tenn.

Barry S. Coller

Physician-in-Chief

Rockefeller University Hospital; and

Vice President for Medical Affairs,

David Rockefeller Professor of Medicine, and

Head, Allen and Frances Laboratory of Blood and Vascular Disease

The Rockefeller University

New York City

John H. Evans

Professor of Sociology and Associate Dean of Social Sciences

University of California

San Diego

Rudolf Jaenisch

Professor of Biology

Whitehead Institute for Biomedical Research

Massachusetts Institute of Technology

Cambridge

Jeffrey Kahn

Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy

Berman Institute of Bioethics

Johns Hopkins University

Baltimore

Robin Lovell-Badge

Group Leader and Head

Division of Stem Cell Biology and Developmental Genetics

The Francis Crick Institute

Original post:
Home | The National Academies of Sciences, Engineering ...

Description:

Professor David Porteous predicts that gene medicines such as gene therapy will improve the effectiveness of treating psychiatric disorders.

Transcript:

I use the phrase 'gene medicine' to refer to medicines that are developed through gene knowledge. They come in lots of different forms. A classic form, if you like, is gene therapy where you actually use the gene itself as a form of therapeutic to manufacture a damaged protein that an individual may be lacking. But more broadly, and I think more relevant to the area of schizophrenia, is the idea of using gene knowledge to make more rational forms of treatment. Now just take the example of having identified a gene a risk factor in schizophrenia and that risk factor turns out to have something to do with the way in which we receive signals in the brain and that process is disordered. If we can understand that basis of that, we can start making much more finely tuned pharmaceuticals than we currently use and ones with far fewer side effects, which is one of the biggest problems in this area. So reducing side effects and improving the effectiveness of treatments is something which I believe will come out of gene knowledge.

Keywords:

gene, medicine, therapy, pharmaceutical, risk, factor, psychiatric, cognitive, disorder, side, effects, protein, brain, david, porteous

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More here:
Gene Medicine - Dolan DNA Learning Center

This article is about the heritable unit for transmission of biological traits. For the name, see Eugene.

A gene is a locus (or region) of DNA that encodes a functional RNA or protein product, and is the molecular unit of heredity.[1][2]:Glossary The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. Most biological traits are under the influence of polygenes (many different genes) as well as the geneenvironment interactions. Some genetic traits are instantly visible, such as eye colour or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that comprise life.

Genes can acquire mutations in their sequence, leading to different variants, known as alleles, in the population. These alleles encode slightly different versions of a protein, which cause different phenotype traits. Colloquial usage of the term "having a gene" (e.g., "good genes," "hair colour gene") typically refers to having a different allele of the gene. Genes evolve due to natural selection or survival of the fittest of the alleles.

The concept of a gene continues to be refined as new phenomena are discovered.[3] For example, regulatory regions of a gene can be far removed from its coding regions, and coding regions can be split into several exons. Some viruses store their genome in RNA instead of DNA and some gene products are functional non-coding RNAs. Therefore, a broad, modern working definition of a gene is any discrete locus of heritable, genomic sequence which affect an organism's traits by being expressed as a functional product or by Regulation of gene expression.[4][5]

The existence of discrete inheritable units was first suggested by Gregor Mendel (18221884).[6] From 1857 to 1864, he studied inheritance patterns in 8000 common edible pea plants, tracking distinct traits from parent to offspring. He described these mathematically as 2ncombinations where n is the number of differing characteristics in the original peas. Although he did not use the term gene, he explained his results in terms of discrete inherited units that give rise to observable physical characteristics. This description prefigured the distinction between genotype (the genetic material of an organism) and phenotype (the visible traits of that organism). Mendel was also the first to demonstrate independent assortment, the distinction between dominant and recessive traits, the distinction between a heterozygote and homozygote, and the phenomenon of discontinuous inheritance.

Prior to Mendel's work, the dominant theory of heredity was one of blending inheritance, which suggested that each parent contributed fluids to the fertilisation process and that the traits of the parents blended and mixed to produce the offspring. Charles Darwin developed a theory of inheritance he termed pangenesis, which used the term gemmule to describe hypothetical particles that would mix during reproduction. Although Mendel's work was largely unrecognized after its first publication in 1866, it was 'rediscovered' in 1900 by three European scientists, Hugo de Vries, Carl Correns, and Erich von Tschermak, who claimed to have reached similar conclusions in their own research.

The word gene is derived (via pangene) from the Ancient Greek word (gnos) meaning "race, offspring".[7]Gene was coined in 1909 by Danish botanist Wilhelm Johannsen to describe the fundamental physical and functional unit of heredity,[8] while the related word genetics was first used by William Bateson in 1905.[9]

Advances in understanding genes and inheritance continued throughout the 20th century. Deoxyribonucleic acid (DNA) was shown to be the molecular repository of genetic information by experiments in the 1940s to 1950s.[10][11] The structure of DNA was studied by Rosalind Franklin using X-ray crystallography, which led James D. Watson and Francis Crick to publish a model of the double-stranded DNA molecule whose paired nucleotide bases indicated a compelling hypothesis for the mechanism of genetic replication.[12][13] Collectively, this body of research established the central dogma of molecular biology, which states that proteins are translated from RNA, which is transcribed from DNA. This dogma has since been shown to have exceptions, such as reverse transcription in retroviruses. The modern study of genetics at the level of DNA is known as molecular genetics.

In 1972, Walter Fiers and his team at the University of Ghent were the first to determine the sequence of a gene: the gene for Bacteriophage MS2 coat protein.[14] The subsequent development of chain-termination DNA sequencing in 1977 by Frederick Sanger improved the efficiency of sequencing and turned it into a routine laboratory tool.[15] An automated version of the Sanger method was used in early phases of the Human Genome Project.[16]

The theories developed in the 1930s and 1940s to integrate molecular genetics with Darwinian evolution are called the modern evolutionary synthesis, a term introduced by Julian Huxley.[17] Evolutionary biologists subsequently refined this concept, such as George C. Williams' gene-centric view of evolution. He proposed an evolutionary concept of the gene as a unit of natural selection with the definition: "that which segregates and recombines with appreciable frequency."[18]:24 In this view, the molecular gene transcribes as a unit, and the evolutionary gene inherits as a unit. Related ideas emphasizing the centrality of genes in evolution were popularized by Richard Dawkins.[19][20]

More here:
Gene - Wikipedia, the free encyclopedia

Gene medicine is making breakthroughs for health questions that have baffled humanity for centuries. Gene therapy is the applicable aspect of the science of gene medicine. Treatments are being developed that can reverse genetic diseases at the molecular level. Health questions that have previously be unanswered are now being solved. Health questions like how to remedy chronic pain are now being clinically tested and the gene therapy is already showing substantial subsiding of pain for the clinical trial patients. As countries put more funding into gene medicine, and more collaboration takes place between those countries, many of the health questions that we have today will be answered in the next decade

Gene medicine is one of the medical disciplines that affect all aspects of human health. From allergies, bone growth and cell development. Gene medicine is also one of the most mysterious to those with health questions as the science is only recognized in the media when discoveries are made. However, research is going on everyday in the field of gene medicine and breakthroughs, while they dont happen everyday, are happening more often. Gene medicine is beginning to look deeper into how dieseases can be blocked, removed and altered using our own human chemistry. Those with health questions and that want to find out more can read any number of medical periodicals that are being released every month. To read the latest news about health and medicine go here

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GeneMedicine Health Guide

With the aim of commercialization, Takara Bio uses biotechnologies developed over many years to advancethe clinical development of gene therapies that target diseases such as cancer and AIDS.

Takara Bio is currently engaged in the clinical development of the following gene therapies.

Takara Bio acquired the HF10 business from M's Science Corporation in November 2010. HF10 is a spontaneously-occurring attenuated mutant strain of herpes simplex virus type 1 (HSV-1) that shows strong antitumor activity when locally injected into tumors. These kinds of viruses are called oncolytic viruses.

Oncolytic viruses selectively replicate inside, and destroy, tumor tissue without excessively damaging normal tissue. Many oncolytic viruses are produced via gene recombination or foreign gene insertion, but HF10 is a spontaneously-mutated virus that does not contain any foreign genes.

In the United States, Phase I clinical trials targeting solid cancers have been completed and Phase II clinical trials targeting malignant melanoma are now underway.

In Japan, clinical research targeting solid cancers has been underway since December 2011 by the Mie University Hospital, while clinical research targeting pancreatic cancer in combination with existing anti-cancer drugs has been underway since April 2013 by the Nagoya University Hospital. Preparations are also being made to begin conducting Phase I clinical trials in fiscal 2015 for patients with solid cancers in Japan.

Phase I clinical trials (investigator-initiated trials) for the MAGE-A4 antigen-specific T cell receptor (TCR) gene therapy began in March 2014. This therapy targets esophageal cancer using next-generation retroviral vectors developed jointly between Takara Bio and Mie University. These clinical trials are the first attempt in Japan at a genetic immunotherapy for cancer. Takara Bio is also preparing to start up a new projectinvolving NY-ESO-1 antigen-specific TCR gene therapy with the aim of commencing Phase I clinical trials in fiscal 2015.

TCR gene therapy involves taking the patient's lymphocytes and transducing them with the TCR gene, which is capable of recognizing cancer antigens. When re-infused into the patient, the gene-transduced lymphocytes specifically recognize, attack, and eliminate cancer cells. TCR gene therapy is so promising that clinical trials targeting malignant melanoma and other cancers using Takara Bio's RetroNectin method are already being conducted at the National Cancer Institute in the United States.

Takara Bio, in a joint effort with both the University of Pennsylvania and Drexel University College of Medicine, commenced an endoribonuclease MazF-based gene therapy Phase I clinical trial in the United States for patients that have been infected with the human immunodeficiency virus (HIV, otherwise known as the AIDS virus). This clinical trial is scheduled for completion in fiscal 2016.

In the mechanism of AIDS, replication of the virus in HIV-infected immune cells causes deficiencies in the entire immune system. However, MazF-modified T-cells (a type of immune cells) are expected to remain functional even if infected by HIV, by preventing replication of the virus. MazF genes are transduced into patient-derived T-cells ex vivo using retroviral vectors that express MazF conditionally upon HIV infection. The MazF-modified T-cells that are infused back into the patients will cleave the RNA strand of HIV and thereby block the replication of the virus when it infects the transduced T-cells. As a result, this method has the potential to become a gene therapy treatment for AIDS.

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Gene Therapy | Business Outline | TAKARA BIO INC.

Gene therapy carries the promise of cures for many diseases and for types of medical treatment that didn't seem possible until recently. With its potential to eliminate and prevent hereditary diseases such as cystic fibrosis and hemophilia and its use as a possible cure for heart disease, AIDS, and cancer, gene therapy is a potential medical miracle-worker.

But what about gene therapy for children? There's a fair amount of risk involved, so thus far only seriously ill kids or those with illnesses that can't be cured by standard medical treatments have been involved in clinical trials using gene therapy.

As those studies continue, gene therapy may soon offer hope for children with serious illnesses that don't respond to conventional therapies.

Our genes help make us unique. Inherited from our parents, they go far in determining our physical traits like eye color and the color and texture of our hair. They also determine things like whether babies will be male or female, the amount of oxygen blood can carry, and the likelihood of getting certain diseases.

Genes are composed of strands of a molecule called DNA and are located in single file within the chromosomes. The genetic message is encoded by the building blocks of the DNA, which are called nucleotides. Approximately 3 billion pairs of nucleotides are in the chromosomes of a human cell, and each person's genetic makeup has a unique sequence of nucleotides. This is mainly what makes us different from one another.

Scientists believe that every human has about 25,000 genes per cell. A mutation, or change, in any one of these genes can result in a disease, physical disability, or shortened life span. These mutations can be passed from one generation to another, inherited just like a mother's curly hair or a father's brown eyes. Mutations also can occur spontaneously in some cases, without having been passed on by a parent. With gene therapy, the treatment or elimination of inherited diseases or physical conditions due to these mutations could become a reality.

Gene therapy involves the manipulation of genes to fight or prevent diseases. Put simply, it introduces a "good" gene into a person who has a disease caused by a "bad" gene.

The two forms of gene therapy are:

Currently, gene therapy is done only through clinical trials, which often take years to complete. After new drugs or procedures are tested in laboratories, clinical trials are conducted with human patients under strictly controlled circumstances. Such trials usually last 2 to 4 years and go through several phases of research. In the United States, the U.S. Food and Drug Administration (FDA) must then approve the new therapy for the marketplace, which can take another 2 years.

The most active research being done in gene therapy for kids has been for genetic disorders (like cystic fibrosis). Other gene therapy trials involve children with severe immunodeficiencies, such as adenosine deaminase (ADA) deficiency (a rare genetic disease that makes kids prone to serious infection), sickle cell anemia, thalassemia, hemophilia, and those with familial hypercholesterolemia (extremely high levels of serum cholesterol).

The rest is here:
Gene Therapy and Children - KidsHealth

Gene conversion is the process by which one DNA sequence replaces a homologous sequence such that the sequences become identical after the conversion event. Gene conversion can be either allelic, meaning that one allele of the same gene replaces another allele, or ectopic, meaning that one paralogous DNA sequence converts another.

Allelic gene conversion occurs during meiosis when homologous recombination between heterozygotic sites results in a mismatch in base pairing. This mismatch is then recognized and corrected by the cellular machinery causing one of the alleles to be converted to the other. This can cause non-Mendelian segregation of alleles in germ cells.[1]

Recombination does not only occur during meiosis, but also as a mechanism for repair of double-strand breaks (DSBs) caused by DNA damage. These DSBs are usually repaired using the sister chromatid of the broken duplex and not the homologous chromosome, so they would not result in allelic conversion. Recombination also occurs between homologous sequences present at different genomic loci (paralogous sequences) which have resulted from previous gene duplications. Gene conversion occurring between paralogous sequences (ectopic gene conversion) is responsible for concerted evolution of gene families.[1][2]

Conversion of one allele to the other is often due to base mismatch repair during homologous recombination: if one of the four chromatids during meiosis pairs up with another chromatid, as can occur because of sequence homology, DNA strand transfer can occur followed by mismatch repair. This can alter the sequence of one of the chromosomes, so that it is identical to the other.

Meiotic recombination is initiated through formation of a double-strand break (DSB). The 5 ends of the break are then degraded, leaving long 3 overhangs of several hundred nucleotides. One of these 3 single stranded DNA segments then invades a homologous sequence on the homologous chromosome, forming an intermediate which can be repaired through different pathways resulting either in crossovers (CO) or noncrossovers (NCO). At various steps of the recombination process, heteroduplex DNA (double-stranded DNA consisting of single strands from each of the two homologous chromosomes which may or may not be perfectly complementary) is formed. When mismatches occur in heteroduplex DNA, the sequence of one strand will be repaired to bind the other strand with perfect complementarity, leading to the conversion of one sequence to another. This repair process can follow either of two alternative pathways as illustrated in the Figure. By one pathway, a structure called a double Holliday junction (DHJ) is formed, leading to the exchange of DNA strands. By the other pathway, referred to as Synthesis Dependent Strand Annealing (SDSA), there is information exchange but not physical exchange. Gene conversion will occur during SDSA if the two DNA molecules are heterozygous at the site of the recombinational repair. Gene conversion may also occur during recombinational repair involving a DHJ, and this gene conversion may be associated with physical recombination of the DNA duplexes on the two sides of the DHJ.

Biased gene conversion (BGC) occurs when one allele has a higher probability of being the donor than the other in a gene conversion event. For example, when a T:G mismatch occurs, it would be more or less likely to be corrected to a C:G pair than a T:A pair. This gives that allele a higher probability of transmission to the next generation. Unbiased gene conversion means that both possibilities occur with equal probability.

GC-biased gene conversion (gBGC) is the process by which the GC content of DNA increases due to gene conversion during recombination.[2] Evidence for gBGC exists for yeasts and humans and the theory has more recently been tested in other eukaryotic lineages.[3] In analyzed human DNA sequences, crossover rate has been found to correlate positively with GC-content.[2] The pseudoautosomal regions (PAR) of the X and Y chromosomes in humans, which are known to have high recombination rates also have high GC contents.[1] Certain mammalian genes undergoing concerted evolution (for example, ribosomal operons, tRNAs, and histone genes) are very GC-rich.[1] It has been shown that GC content is higher in paralogous human and mouse histone genes that are members of large subfamilies (presumably undergoing concerted evolution) than in paralogous histone genes with relatively unique sequences.[4] There is also evidence for GC bias in the mismatch repair process.[1] It is thought that this may be an adaptation to the high rate of methyl-cytosine deamination which can lead to CT transitions.

The Fxy or Mid1 gene in some mammals closely related to house mice (humans, rats, and other Mus species) is located in the sex-linked region of the X chromosome. However, in Mus musculus, it has recently translocated such that the 3 end of the gene overlaps with the PAR region of the X-chromosome, which is known to be a recombination hotspot. This portion of the gene has experiences a dramatic increase in GC content and substitution rate at the 3rd codon position as well as in introns whereas the 5 region of the gene which is X-linked has not. Because this effect is present only in the region of the gene experiencing increased recombination rate, it must be due to biased gene conversion and not selective pressure.[2]

GC content varies widely in the human genome (4080%), but there seem to be large sections of the genome where GC content is, on average, higher or lower than in other regions.[1] These regions, although not always showing clear boundaries, are known as isochores. One possible explanation for the presence of GC-rich isochores is that they evolved due to GC-biased gene conversion in regions with high levels of recombination.

Studies of gene conversion have contributed to our understanding of the adaptive function of meiotic recombination. The ordinary segregation pattern of an allele pair (Aa) among the 4 products of meiosis is 2A:2a. Detection of infrequent gene conversion events (e.g. 3:1 or 1:3 segregation patterns during individual meioses) provides insight into the alternate pathways of recombination leading either to crossover or non-crossover chromosomes. Gene conversion events are thought to arise where the A and a alleles happen to be near the exact location of a molecular recombination event. Thus it is possible to measure the frequency with which gene conversion events are associated with crossover or non-crossover of chromosomal regions adjacent to, but outside, the immediate conversion event. Numerous studies of gene conversion in various fungi (which are especially suited for such studies) have been carried out, and the findings of these studies have been reviewed by Whitehouse.[5] It is clear from this review that most gene conversion events are not associated with outside marker exchange. Thus, most gene conversion events in the several different fungi studied are associated with non-crossover of outside markers. Non-crossover gene conversion events are mainly produced by Synthesis Dependent Strand Annealing (SDSA).[6] This process involves limited informational exchange, but not physical exchange of DNA, between the two participating homologous chromosomes at the site of the conversion event, and little genetic variation is produced. Thus explanations for the adaptive function of meiotic recombination that focus exclusively on the adaptive benefit of producing new genetic variation or physical exchange seem inadequate to explain the majority of recombination events during meiosis. However, the majority of meiotic recombination events can be explained by the proposal that they are an adaptation for repair of damages in the DNA that is to be passed on to gametes.[7][8]

Originally posted here:
Gene conversion - Wikipedia, the free encyclopedia

Volume 9, Issue 2 Summary

In patients with type 1 diabetes, pancreatic beta cells self-destruct, leaving the body bereft of insulin. Yasuhiro Ikeda, D.V.M., Ph.D., is working to create a customizable gene and stem cell therapy system that will arrest the loss of these beta cells possibly permanently eliminating the need for insulin injections.

Yasuhiro Ikeda, D.V.M., Ph.D., is spearheading stem cell research in the Mayo Clinic Center for Regenerative Medicine.

Nearly everyone knows someone with diabetes it's hard not to. In the United States, 1 in 3 adults and 1 in 6 children have high blood sugar, according to the National Institutes of Health.

After you eat, glucose is absorbed into your bloodstream and carried throughout your body. Insulin a hormone made by beta cells in your pancreas then signals your cells to take up glucose, helping your body turn the food into energy.

With diabetes, this process can go wrong in two basic ways:Type 1 diabetes results from the body's failure to produce insulin;type 2 diabetes occurs when there's plenty of insulin but the cells lose their ability to perceive its signal. In both cases, cells starve.

Living well with diabetes requires a lifelong commitment to monitoring blood sugar, eating properly, exercising regularly and maintaining a healthy weight. People with type 1 diabetes must also rely on insulin replacement therapy, usually through insulin injections. People with type 2 diabetes might need oral medication.

Still, every year, diabetes kills about 70,000 people in the United States and is a contributing cause in another 160,000 deaths each year, according to the Centers for Disease Control and Prevention.

Yasuhiro Ikeda, D.V.M., Ph.D., a molecular biologist at Mayo Clinic in Rochester, Minn., wants to change that.

After beginning his career as a veterinary feline specialist, Dr. Ikeda had to change course when he developed an allergy to his four-legged patients that made it impossible to be in a room with them. He turned his attention toward research and discovered that his interest in molecular virology had human as well as feline applications.

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Gene therapy and regenerative medicine lend hope to ...

A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes.

Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people. Alleles are forms of the same gene with small differences in their sequence of DNA bases. These small differences contribute to each persons unique physical features.

Genes are made up of DNA. Each chromosome contains many genes.

Genetics Home Reference provides consumer-friendly gene summaries that include an explanation of each genes normal function and how mutations in the gene cause particular genetic conditions.

The Centre for Genetics Education offers a fact sheet that introduces genes and chromosomes.

The Tech Museum of Innovation at Stanford University describes genes and how they were discovered.

The Virtual Genetics Education Centre, created by the University of Leicester, offers additional information on DNA, genes, and chromosomes.

Next: What is a chromosome?

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What is a gene? - Genetics Home Reference

ACGT Savio Woo Tribute
Upon his retirement as Founding Chair, Cell and Gene Medicine at Mt. Sinai and as Founding Chair, ACGT #39;s Scientific Advisory Council, ACGT proudly celebrates the distinction of the long...

By: ACGTFoundation

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ACGT Savio Woo Tribute - Video

TAMPA, Fla. & DUBLIN--(BUSINESS WIRE)-- Vycellix, Inc., an immuno-discovery cell & gene therapy company, and Avectas Limited, a cell engineering technology business, today jointly announced that the companies have entered into a collaboration agreement to develop proprietary approaches for cell-based immunotherapeutic products.

The companies will collaborate on the delivery of Vycellix's novel RNA immunomodulator VY-M using Avectas' cell engineering platform, Solupore. The collaboration will address current limitations for cell-based therapies, in particular with respect to the need to accelerate the manufacturing process, reduce the cost of manufacture, and ultimately improve patient outcomes.

"We are delighted to partner with Vycellix and join forces in the development of novel cell-based products," stated Michael Maguire, Ph.D., CEO of Avectas. "We believe Solupore will play a critical role in the manufacture of cell-based therapies and will support a path towards effective patient outcomes."

According to Vycellixs President, Douglas Calder, Solupore represents a new paradigm for delivery of transgenes, and our initial studies will evaluate Solupore to deliver our product candidate, VY-M, to T cells and natural killer (NK) cells. We expect to accelerate the expansion-time of T cells and NK cells by decreasing the non-dividing lag time, resulting in much shorter vein-to-vein delivery-time to patients. The studies will be conducted at Avectas Dublin-based facility and at Karolinska Institutet, Stockholm, Sweden.

Both Vycellix and Avectas are collaborative partners within NextGenNK, a newly established competence center for development of next-generation NK cell-based cancer immunotherapies based at Karolinska Institutet, Stockholm, Sweden. It is envisioned that Vycellix and Avectas will further expand their collaboration within the NextGenNK constellation.

We are excited to see the NextGenNK Competence Center catalyzing interactions among its industrial partners to advance NK cell-based immunotherapies, said Hans-Gustaf Ljunggren, M.D., Ph.D., Director of the NextGenNK Competence Center. The present collaboration may pave the way for similar collaborations among NextGenNK partners.

About Vycellix, Inc.: Vycellix is a private, immuno-discovery, life science company at the forefront of innovation in the development of cell & gene-based therapies targeting indications in, but not limited to, hematology/oncology, autoimmunity/chronic inflammatory diseases, and organ/tissue transplantation.

The Companys portfolio of transformational platform technologies encompass novel tools urgently sought after to enable broad global adoption of advanced therapies including: 1) the ability to generate Universal Cells (VY-UC), without the need to alter expression of any of the cellular components that control self-recognition (HLA Class I or II), obviating the need for immune-suppressive drugs and redefining the path towards off-the-shelf therapies; 2) the ability to amplify cell-potency through the upregulation of internal cytotoxic mechanisms (VY-X); 3) the ability to accelerate the expansion of cells for immunotherapy by near-elimination of non-dividing lag time to leap forward to shorter vein-to-vein time with expanded cells (VY-M); and, 4) the ability to markedly enhance gene transduction levels using viral vectors with implications for autologous and allogeneic CAR-T and CAR-NK cell development (VY-OZ).

The Companys platforms were all discovered by scientists at the world-renowned Karolinska Institutet (KI) in Stockholm, Sweden. KI is globally recognized for its Nobel Assembly, which awards the Nobel Prize in Physiology or Medicine. For more information, please visit the Companys website at: http://www.Vycellix.com and follow its Twitter feed at: @Vycellix.

About Avectas Limited: Avectas is a cell engineering technology business developing a unique delivery platform to enable the ex-vivo manufacture of our partners' gene-modified cell therapy products, which will retain high in-vivo functionality. Our vision is to be a leading non-viral cell engineering technology provider, integrated into manufacturing processes for multiple autologous and allogeneic therapies, commercialized through development and license agreements. For more information, please visit the Company's website at http://www.avectas.com.

Forward Looking Statements: This press release contains forward-looking statements. All statements other than statements of historical facts are forward-looking statements, including those relating to future events. In some cases, forward-looking statements can be identified by terminology such as plan, expect, anticipate, may, might, will, should, project, believe, estimate, predict, potential, intend, or continue and other words or terms of similar meaning. These statements include, without limitation, statements related to the pre-clinical, regulatory, clinical and/or commercial development and all anticipated uses of VY-OZ, VY-X, VY-M and VY-UC, and the Companys plans for seeking out-licensing opportunities for these assets. These forward-looking statements are based on current plans, objectives, estimates, expectations and intentions, and inherently involve significant risks and uncertainties. Actual results and the timing of events could differ materially from those anticipated in such forward-looking statements as a result of these risks and uncertainties, which include, without limitation, risks and uncertainties associated with immuno-discovery product development, including risks associated with advancing products to human clinical trials and/or ultimately regulatory and commercial success which is subject to the uncertainty of regulatory approval, market adoption and other risks and uncertainties affecting Vycellix and its development programs. Other risks and uncertainties of which Vycellix is not currently aware may also affect Vycellixs forward-looking statements and may cause actual results and the timing of events to differ materially from those anticipated. The forward-looking statements herein are made only as of the date hereof. Vycellix undertakes no obligation to update or supplement any forward-looking statements to reflect actual results, new information, future events, changes in its expectations or other circumstances that exist after the date as of which the forward-looking statements were made.

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Vycellix and Avectas Announce Collaboration to Advance Next-Generation Solutions for the Optimized Manufacture of Cell & Gene Therapies - BioSpace

Working at a breakneck pace, a team of hundreds of scientists has identified 50 drugs that may be effective treatments for people infected with the coronavirus.

Many scientists are seeking drugs that attack the virus itself. But the Quantitative Biosciences Institute Coronavirus Research Group, based at the University of California, San Francisco, is testing an unusual new approach.

The researchers are looking for drugs that shield proteins in our own cells that the coronavirus depends on to thrive and reproduce.

Many of the candidate drugs are already approved to treat diseases, such as cancer, that would seem to have nothing to do with Covid-19, the illness caused by the coronavirus.

Scientists at Mount Sinai Hospital in New York and at the Pasteur Institute in Paris have already begun to test the drugs against the coronavirus growing in their labs. The far-flung research group is preparing to release its findings at the end of the week.

There is no antiviral drug proven to be effective against the virus. When people get infected, the best that doctors can offer is supportive care the patient is getting enough oxygen, managing fever and using a ventilator to push air into the lungs, if needed to give the immune system time to fight the infection.

If the research effort succeeds, it will be a significant scientific achievement: an antiviral identified in just months to treat a virus that no one knew existed until January.

Im really impressed at the speed and the scale at which theyre moving, said John Young, the global head of infectious diseases at Roche Pharma Research and Early Development, which is collaborating on some of the work.

We think this approach has real potential, he said.

Some researchers at the Q.B.I. began studying the coronavirus in January. But last month, the threat became more imminent: A woman in California was found to be infected although she had not recently traveled outside the country.

That finding suggested that the virus was already circulating in the community.

I got to the lab and said weve got to drop everything else, recalled Nevan Krogan, director of the Quantitative Biosciences Institute. Everybody has got to work around the clock on this.

Dr. Krogan and his colleagues set about finding proteins in our cells that the coronavirus uses to grow. Normally, such a project might take two years. But the working group, which includes 22 laboratories, completed it in a few weeks.

You have 30 scientists on a Zoom call its the most exhausting, amazing thing, Dr. Krogan said, referring to a teleconferencing service.

Viruses reproduce by injecting their genes inside a human cell. The cells own gene-reading machinery then manufactures viral proteins, which latch onto cellular proteins to create new viruses. They eventually escape the cell and infect others.

In 2011, Dr. Krogan and his colleagues developed a way to find all the human proteins that viruses use to manipulate our cells a map, as Dr. Krogan calls it. They created their first map for H.I.V.

That virus has 18 genes, each of which encodes a protein. The scientists eventually found that H.I.V. interacts, in one way or another, with 435 proteins in a human cell.

Dr. Krogan and his colleagues went on to make similar maps for viruses such as Ebola and dengue. Each pathogen hijacks its host cell by manipulating a different combination of proteins. Once scientists have a map, they can use it to search for new treatments.

In February, the research group synthesized genes from the coronavirus and injected them into cells. They uncovered over 400 human proteins that the virus seems to rely on.

The flulike symptoms observed in infected people are the result of the coronavirus attacking cells in the respiratory tract. The new map shows that the viruss proteins travel throughout the human cell, engaging even with proteins that do not seem to have anything to do with making new viruses.

One of the viral proteins, for example, latches onto BRD2, a human protein that tends to our DNA, switching genes on and off. Experts on proteins are now using the map to figure out why the coronavirus needs these molecules.

Kevan Shokat, a chemist at U.C.S.F., is poring through 20,000 drugs approved by the Food and Drug Administration for signs that they may interact with the proteins on the map created by Dr. Krogans lab.

Dr. Shokat and his colleagues have found 50 promising candidates. The protein BRD2, for example, can be targeted by a drug called JQ1. Researchers originally discovered JQ1 as a potential treatment for several types of cancer.

On Thursday, Dr. Shokat and his colleagues filled a box with the first 10 drugs on the list and shipped them overnight to New York to be tested against the living coronavirus.

The drugs arrived at the lab of Adolfo Garcia-Sastre, director of the Global Health and Emerging Pathogens Institute at Mount Sinai Hospital. Dr. Garcia-Sastre recently began growing the coronavirus in monkey cells.

Over the weekend, the team at the institute began treating infected cells with the drugs to see if any stop the viruses. We have started experiments, but it will take us a week to get the first data here, Dr. Garcia-Sastre said on Tuesday.

The researchers in San Francisco also sent the batch of drugs to the Pasteur Institute in Paris, where investigators also have begun testing them against coronaviruses.

If promising drugs are found, investigators plan to try them in an animal infected with the coronavirus perhaps ferrets, because theyre known to get SARS, an illness closely related to Covid-19.

Even if some of these drugs are effective treatments, scientists will still need to make sure they are safe for treating Covid-19. It may turn out, for example, that the dose needed to clear the virus from the body might also lead to dangerous side effects.

This collaboration is far from the only effort to find an antiviral drug effective against the coronavirus. One of the most closely watched efforts involves an antiviral called remdesivir.

In past studies on animals, remdesivir blocked a number of viruses. The drug works by preventing viruses from building new genes.

In February, a team of researchers found that remdesivir could eliminate the coronavirus from infected cells. Since then, five clinical trials have begun to see if the drug will be safe and effective against Covid-19 in people.

Other researchers have taken startling new approaches. On Saturday, Stanford University researchers reported using the gene-editing technology Crispr to destroy coronavirus genes in infected cells.

As the Bay Area went into lockdown on Monday, Dr. Krogan and his colleagues were finishing their map. They are now preparing a report to post online by the end of the week, while also submitting it to a journal for publication.

Their paper will include a list of drugs that the researchers consider prime candidates to treat people ill with the coronavirus.

Whoever is capable of trying them, please try them, Dr. Krogan said.

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Coronavirus Treatment: Hundreds of Scientists Scramble to Find One - The New York Times

MANHATTAN, Kan., Nov. 21, 2019 /PRNewswire/ -- Libella Gene Therapeutics, LLC("Libella") announces an institutional review board (IRB)-approved pay-to-play clinical trial in Colombia (South America) using gene therapy that aims to treat and ultimately cure aging. This could lead to Libella offering the world's only treatment to cure and reverse aging by 20 years.

Under Libella's pay-to-play model, trial participants will be enrolled in their country of origin after paying$1 million. Participants will travel to Colombia to sign their informed consent and to receive the Libella gene therapy under a strictly controlled hospital environment.

Traditionally, aging has been viewed as a natural process. This view has shifted, and now scientists believe that aging should be seen as a disease. The research in this field has led to the belief that the kingpin of aging in humans is the shortening of our telomeres.

Telomeres are the body's biological clock. Every time a cell divides, telomeres shorten, and our cells become less efficient at dividing again. This is why we age. A significant number of scientific peer-reviewed studies have confirmed this. Some of these studies have shown actual age reversal in every way imaginable simply by lengthening telomeres.

Bill Andrews, Ph.D., Libella's Chief Scientific Officer, has developed a gene therapy that aims to lengthen telomeres. Dr. Andrew's gene therapy delivery system has been demonstrated as safe with minimal adverse reactions in about 200 clinical trials. Dr. Andrews led the research at Geron Corporation over 20 years ago that initially discovered human telomerase and was part of the team that led the initial experiments related to telomerase induction and cancer.

Telomerase gene therapy in mice delays aging and increases longevity. Libella's clinical trial involves a new gene-therapy using a proprietary AAV Reverse (hTERT) Transcriptase enzyme and aims to lengthen telomeres. Libella believes that lengthening telomeres is the key to treating and possibly curing aging.

Libella's clinical trial has been posted at the United States National Library of Medicine (NLM)'s clinicaltrials.gov database. Libella is the world's first and only gene therapy company with a clinical trial posted at clinicaltrials.gov that aims to reverse the condition of aging.

On why they decided to conduct its project outside the United States, Libella's President, Dr. Jeff Mathis, said, "Traditional clinical trials in the U.S. can take years and millions, or even billions,of dollars. The research and techniques that have been proven to work are ready now. We believe we have the scientist, the technology, the physicians, and the lab partners that are necessary to get this trial done faster and at a lower cost in Colombia."

Media Contact:Osvaldo R. Martinez-ClarkPhone: +1 (786) 471-7814Email: ozclark@libellagt.com

Related Files

curing_aging_booklet.pdf

Related Images

william-bill-andrews-ph-d.jpg William (Bill) Andrews, Ph.D. Dr. Bill Andrews is a scientist who has spent his entire life trying to defeat the processes that cause us to age. He has been featured in Popular Science, The Today Show, and numerous documentaries on the topic of life extension including The Immortalists documentary.

Related Links

Dr. Bill Andrews speech at RAADfest 2018 (Sept 21, San Diego, CA)

bioaccess: Libella's CRO partner in Colombia.

SOURCE Libella Gene Therapeutics, LLC

http://www.libellagenetherapeutics.com/

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Breakthrough Gene Therapy Clinical Trial is the World's First That Aims to Reverse 20 Years of Aging in Humans - PRNewswire

Predictive Technology Group Inc (OTCMKTS:PRED) just announced that it and Atrin Pharmaceuticals LLC are entering into a collaboration agreement to develop molecular diagnostic tools to facilitate improved selection of cancer patients who would most benefit from treatment with DNA Damage and Response (DDR) inhibitors, including Atrins and other small molecule ATR inhibitors.

According to the release, Atrinand Predictive will jointly utilize Predictive Laboratories state-of-the-artsequencing capabilities and genomics expertise to identify cancer patients withspecific molecular markers that predict the level of clinical response toAtrins, and other, targeted therapies. This is intended to improve patientoutcomes as well as improve Atrins ability to successfully progress itsproduct pipeline, and upon commercialization, improve on the treatments forwomen with cancer.

Predictive Technology Group Inc (OTCMKTS:PRED) promulgates itself as a company that, together with its subsidiaries, develops and commercializes discoveries and technologies involved in novel molecular diagnostic and pharmaceutical therapeutic/human cells, tissues, and human cellular and tissue-based products (HCT/Ps).

The company was formerly knownas Global Enterprises Group, Inc. and changed its name to Predictive TechnologyGroup, Inc. in July 2015. Predictive Technology Group, Inc. was founded in 2005and is headquartered in Salt Lake City, Utah.

The company operates through two segments, Regenerative Medicine Products and HCT/Ps, and Diagnostics and Therapeutics. It offers ARTguide, a genetic diagnostic and prognostic test for women experiencing infertility as a result of endometriosis and other health concerns; and regenerative medicine products, including AmnioCyteT, AmnioCyte PlusT, PolyCyteT, and CoreCyteT.

According to companymaterials, Predictive Technology Group aims to revolutionize patient carethrough predictive data analytics, novel gene-based diagnostics and companiontherapeutics through its subsidiaries Predictive Therapeutics, PredictiveBiotech, and Predictive Laboratories. These subsidiaries are focused onendometriosis, scoliosis, degenerative disc disease and human cell and tissueproducts. The subsidiaries use genetic and other information as cornerstones inthe development of new diagnostics that assess a persons risk of illness andtherapeutic products designed to identify, prevent and treat diseases moreeffectively.

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As noted above, PRED just announced that it and Atrin Pharmaceuticals LLC are entering into a collaboration agreement to develop molecular diagnostic tools to facilitate improved selection of cancer patients who would most benefit from treatment with DNA Damage and Response (DDR) inhibitors, including Atrins and other small molecule ATR inhibitors.

Even in light of this news, PRED has had a rough past week of trading action, with shares sinking something like -2% in that time. That said, chart support is nearby and we may be in the process of constructing a nice setup for some movement back the other way. Moreover, the stock has seen interest climb, with an increase in recent trading volume of 12% beyond what we have been seeing over the larger time frame.

We are very pleased to workwith Atrin Pharmaceuticals, a recognized leader in the development ofanti-cancer therapeutics targeting DDR, said Bradley Robinson, president andchief executive officer of Predictive Technology Group. We see an opportunityto develop a precision medicine approach to address unmet medical needs bycombining our state-of-the-art sequencing capabilities, genomics expertise andcompanion diagnostics with Atrins targeted therapeutics. This collaboration isconsistent with our vision of building a leading womens health platform, andwe look forward to working together on this important initiative.

Earning a current market capvalue of $252M, PRED has a stash ($842K) ofcash on the books, which compares with about $8.6M in total currentliabilities. PRED is pulling in trailing 12-month revenues of $43.7M. Inaddition, the company is seeing major top-line growth, with y/y quarterlyrevenues growing at 2.4%. You can bet we will update this one again as newinformation comes into view. Sign-up forcontinuing coverage on shares of $PRED stock, as well as other hot stock picks,get our free newsletter today and get our next breakout pick!

Disclosure: we hold no position in $PRED, either long orshort, and we have not been compensated for this article.

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Where's Rock Bottom for Predictive Technology Group Inc (OTCMKTS:PRED)? - The Oracle Dispatch

RESEARCH TRIANGLE PARK, N.C. , Feb. 04, 2020 (GLOBE NEWSWIRE) -- Asklepios BioPharmaceutical (AskBio), a clinical-stage adeno-associated virus (AAV) gene therapy company, and its NanoCor Therapeutics subsidiary today announced that the first patient has been dosed in a Phase 1 clinical trial of NAN-101. NAN-101 is a gene therapy that aims to activate protein phosphatase inhibitor 1 (I-1c) to inhibit the activity of protein phosphatase 1 (PP1), a substance that plays an important role in the development of heart failure.

Congestive heart failure (CHF) is a condition in which the heart is unable to supply sufficient blood and oxygen to the body and can result from conditions that weaken the heart muscle, cause stiffening of the heart muscles, or increase oxygen demand by the body tissues beyond the hearts capability.

"Dosing the first patient using gene therapy to target I-1c to improve heart function is a tremendous milestone not only for the AskBio and NanoCor teams but, more importantly, for patients whose quality of life is negatively affected by CHF, said Jude Samulski, PhD, Chief Scientific Officer and co-founder of AskBio. We initially developed this gene therapy as treatment for late-stage Duchenne muscular dystrophy patients who typically die from cardiomyopathy. Following preclinical studies, we observed that heart function improved, which led us to investigate treatment for all types of heart failure.

Were excited to be involved in this novel approach for patients with Class III heart failure, said Timothy Henry, MD, FACC, MSCAI, Lindner Family Distinguished Chair in Clinical Research and Medical Director of The Carl and Edyth Lindner Center for Research at The Christ Hospital in Cincinnati, Ohio, and principal investigator for the study. These patients currently have no other options besides transplant and left ventricular assist devices (LVAD). Today, we started to explore the potential of gene therapy to change their outcomes.

Heart disease is the leading cause of death worldwide, with CHF affecting an estimated 1% of the Western world, including over six million Americans. There is no cure, and medications and surgical treatments only seek to relieve symptoms and slow further damage.

Research by many investigators around the world has been trying to understand what exactly goes wrong in the heart and weakens its pumping activity until it finally fails, said Evangelia (Litsa) Kranias, PhD, FAHA, Hanna Professor, Distinguished University Research Professor and Director of Cardiovascular Biology at the University of Cincinnati College of Medicine. The aim has been to identify potential therapeutic targets to restore function or prevent further deterioration of the failing heart. Along these lines, research on the role of I-1c started over two decades ago, and it moved from the lab bench to small and large animal models of heart failure. The therapeutic benefits at all levels were impressive. It is thrilling to see I-1c moving into clinical trials with the hope that it also improves heart function in patients with CHF.

About the NAN-101 Clinical Trial NAN-CS101 is a Phase 1 open-label, dose-escalation trial of NAN-101 in subjects with NYHA Class III heart failure. NAN-101 is administered directly to the heart via an intracoronary infusion by cardiac catheterization in a process similar to coronary angioplasty, commonly used to deliver treatments such as stem cells to patients with heart disease. The primary objective of the study is to assess the safety of NAN-101 for the treatment of NYHA Class III heart failure, as well as assess the impact of this treatment on patient health as measured by changes in exercise capacity, heart function and other factors including quality of life.

AskBio is actively enrolling patients with NYHA Class III heart failure to assess three doses of NAN-101. Please refer to clinicaltrials.gov for additional clinical trial information.

Would you like to receive our AskFirst patient engagement program newsletter? Sign up at https://www.askbio.com/patient-advocacy.

About The Christ Hospital Health Network The Christ Hospital Health Network is an acute care hospital located in Mt. Auburn with six ambulatory centers and dozens of offices conveniently located throughout the region. More than 1,200 talented physicians and 6,100 dedicated employees support the Network. Its mission is to improve the health of the community and to create patient value by providing exceptional outcomes, the finest experiences, all in an affordable way. The Network has been recognized by Forbes Magazine as the 24th best large employer in the nation in the magazines Americas 500 Best Large Employers listing and by National Consumer Research as the regions Most Preferred Hospital for more than 22 consecutive years. The Network is dedicated to transforming care by delivering integrated, personalized healthcare through its comprehensive, multi-specialty physician network. The Christ Hospital is among only eight percent of hospitals in the nation to be awarded Magnet recognition for nursing excellence and among the top five percent of hospitals in the country for patient satisfaction. For more than 125 years, The Christ Hospital has provided compassionate care to those it serves.

About AskBioFounded in 2001, Asklepios BioPharmaceutical, Inc. (AskBio) is a privately held, clinical-stage gene therapy company dedicated to improving the lives of children and adults with genetic disorders. AskBios gene therapy platform includes an industry-leading proprietary cell line manufacturing process called Pro10 and an extensive AAV capsid and promoter library. Based in Research Triangle Park, North Carolina, the company has generated hundreds of proprietary third-generation AAV capsids and promoters, several of which have entered clinical testing. An early innovator in the space, the company holds more than 500 patents in areas such as AAV production and chimeric and self-complementary capsids. AskBio maintains a portfolio of clinical programs across a range of neurodegenerative and neuromuscular indications with a current clinical pipeline that includes therapeutics for Pompe disease, limb-girdle muscular dystrophy type 2i/R9 and congestive heart failure, as well as out-licensed clinical indications for hemophilia (Chatham Therapeutics acquired by Takeda) and Duchenne muscular dystrophy (Bamboo Therapeutics acquired by Pfizer). For more information, visit https://www.askbio.com or follow us on LinkedIn.

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AskBio Announces First Patient Dosed in Phase 1 Trial Using AAV Gene Therapy for Congestive Heart Failure - BioSpace

chairoij/ShutterStockImagine having your spleen removed, undergoing a double hip replacement, and receiving monthly blood transfusions to prevent severe pain attacks, all by the age of 13. That was the life of a teenager in France with sickle cell disease (SCD) until October 2014, when he received experimental gene therapy as part of a clinical study. Now, hes completely off all medications and his SCD is essentially gone, making him the hopeful poster child for the worlds first effective sickle cell disease therapy. (Dont these medical miracles that doctors cant explain.)

Standard treatments were not able to control his SCD symptoms [but] since receiving the stem cell transplant with LentiGlobin, he has been free from severe symptoms and has resumed normal activities, without the need for further transfusions, said study author Marina Cavazzana, MD, PhD, of Necker Hospital in Paris, France, where the trial was conducted, in a news release.

SCD is a inherited blood disorder where sufferers have sickle hemoglobin, an abnormal form of the oxygen-carrying protein which changes the shape of red blood cells (from a flexible disc shape to a rigid crescent one), making it hard for them to pass through blood vessels and often causing blockages that slow or stop the flow of oxygen-rich blood to nearby tissues, causing sudden and severe pain. Sickled red blood cells also die after 10 to 20 days, compared to normal ones which can live up to 120; this can cause the body to have trouble keeping up with red blood cell production, leading to anemia. A stem-cell transplant is currently the only curative option for patients, but fewer than 18 percent of patients are able to find a matching donor.

That is until now. The 13-year-old boy (known as Patient 1204) had bone marrow extracted, which was then genetically altered with the drug LentiGlobin BB305 so that his body made normal, healthy red blood cells instead of the sickle cells it was creating before. After just six months, the proportions of sickled red cells in his blood were significantly lower than those in untreated SCD patients. Now more than 15 months since the treatment, his body is still producing normal red blood cells and he hasnt experience any SCD-related episodes or hospitalizations, according to the study published in the New England Journal of Medicine.

Ive worked in gene therapy for a long time and we make small steps and know theres years more work. But here you have someone who has received gene therapy and has complete clinical remissionthats a huge step forward, Deborah Gill, PhD, of the gene medicine research group at the University of Oxford in England told BBC.

Scientists plan to test the drug on other sickle cell disease patients to see if the results are replicated.

MORE: This Grandmother Beat Cancer in a Groundbreaking 20-Minute Treatment

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Teen's Sickle Cell Disease 'Reversed' with Groundbreaking Therapy - Reader's Digest

March 10, 2017 From left to right, the experts Susana Balcells, Daniel Grinberg and Roser Urreizti at the Faculty of Biology of the University of Barcelona

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and 60 people in the world. A team led by the professors Daniel Grinberg and Susana Balcells, from the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) has now identified a gene that causes Opitz C syndrome in the only patient in Catalonia diagnosed with this severe congenital disease. This new scientific advance is a first step to discovering the genetic bases of this syndrome which, so far, has no treatment, prenatal diagnosis or genetic counseling.

The new study, published in the journal Scientific Reports, has the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and a wide group of experts of the Center for Genomic Regulation (CRG) and the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR).

Opitz C syndrome: rare but not invisible

The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.

In the new study, the experts described for the first time, the existence of a novo mutation p.Q638 located in the gene MAGEL2 of the only diagnosed person with Opitz C syndrome in Catalonia. Identifying this mutation, found in the Prader-Willi Region on chromosome 15, widens the knowledge horizons on genetics and the possibilities for a diagnosis on these rare diseases.

"The p.Q638* mutation, identified in the gene MAGEL2, coincides with the one described concurrently and independently in a patient with Schaaf-Yang syndrome, a new minoritary disease affecting fifty people in the world. The first cases were described on a scientific bibliography in 2013 by the team of Professor Christian Schaaf, from the Baylor College of Medicine, Houston," says Professor Daniel Grinberg, member of the Institute of Biomedicine of the University of Barcelona (IBUB), the Research Institute of Sant Joan de Du (IRSJD) and CIBERER.

"Consequently, from a genetic diagnosis perspective says DanieL Grinberg- this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients with Schaaf-Yang syndrome."

Genetics will define the limits of rare diseases

Identifying the genes that cause a disease is a breakpoint to understand the pathology and set new future therapeutic approaches that improve the quality of life of the patients. In the new study, the teams of the UB and the CRG applied techniques of DNA massive sequencing (exome and genome), a powerful methodology that allows identifying altered genes in each patient.

According to Susana Balcells, tenured lecturer at the UB and also member of IBUB and CIBERER, "what we can see from a clinical symptomatology view in these kinds of diseases which are so hard to study and diagnose, is far from the initial molecular defect that generates the disease."

"All these clinical doubts continued Balcells- will be solved with genetics, which will define the limits of these rare diseases and will ease the scientific consensus on the diagnosis and genetic causes that create them."

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective," concluded the researcher.

Explore further: Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome

More information: Roser Urreizti et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes, Scientific Reports (2017). DOI: 10.1038/srep44138

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Researchers find a gene that causes Opitz C syndrome - Medical Xpress