Category Archives: Gene Medicine

Study of twins discovers gene mutation linked to short sleep duration American Academy of Sleep Medicine Thursday, July 31, 2014

FOR IMMEDIATE RELEASE CONTACT: Lynn Celmer, 630-737-9700, ext. 9364, lcelmer@aasmnet.org

DARIEN, IL Researchers who studied 100 twin pairs have identified a gene mutation that may allow the carrier to function normally on less than six hours of sleep per night. The genetic variant also appears to provide greater resistance to the effects of sleep deprivation.

Results show that a participant with p.Tyr362His a variant of the BHLHE41 gene had an average nightly sleep duration of only five hours, which was more than one hour shorter than the non-carrier twin, who slept for about six hours and five minutes per night. The twin with the gene mutation also had 40 percent fewer average lapses of performance during 38 hours without sleep and required less recovery sleep afterward sleeping only eight hours after the period of extended sleep deprivation compared with his twin brother, who slept for 9.5 hours.

According to the authors, this is only the second study to link a mutation of the BHLHE41 gene also known as DEC2 - to short sleep duration. The study provides new insights into the genetic basis of short sleep in humans and the molecular mechanisms involved in setting the duration of sleep that individuals need.

This work provides an important second gene variant associated with sleep deprivation and for the first time shows the role of BHLHE41 in resistance to sleep deprivation in humans, said lead author Renata Pellegrino, PhD, senior research associate in the Center for Applied Genomics at The Childrens Hospital of Philadelphia. The mutation was associated with resistance to the neurobehavioral effects of sleep deprivation.

Study results are published in the Aug. 1 issue of the journal Sleep.

Pellegrino, along with co-author Ibrahim Halil Kavakli, from Koc University in Istanbul, Turkey, studied 100 twin pairs 59 monozygotic pairs and 41 dizygotic pairs who were recruited at the University of Pennsylvania. All twin pairs were the same sex and were healthy with no chronic conditions. Nightly sleep duration was measured at home by actigraphy for seven to eight nights. Response to 38 hours of sleep deprivation and length of recovery sleep were assessed in a sleep lab. During sleep deprivation, cognitive performance was measured every two hours using the Psychomotor Vigilance Test.

Although individual sleep needs vary, the American Academy of Sleep Medicine recommends that adults get about seven to nine hours of nightly sleep. However, a small percentage of adults are normal short sleepers who routinely obtain less than six hours of sleep per night without any complaints of sleep difficulties and no obvious daytime dysfunction.

This study emphasizes that our need for sleep is a biological requirement, not a personal preference, said American Academy of Sleep Medicine President Dr. Timothy Morgenthaler. Most adults appear to need at least seven hours of quality sleep each night for optimal health, productivity and daytime alertness.

According to the AASM, most people who regularly get six hours of sleep or less are restricting their sleep and suffer from insufficient sleep syndrome, which occurs when an individual persistently fails to obtain the amount of sleep required to maintain normal levels of alertness and wakefulness. Data from the Centers for Disease Control and Prevention indicate that 28 percent of U.S. adults report sleeping six hours or less in a 24-hour period. Insufficient sleep results in increased daytime sleepiness, concentration problems and lowered energy level, and it increases the risk of depression, drowsy driving, and workplace accidents.

The study involved a collaboration between researchers from The Childrens Hospital of Philadelphia; Universidade Federal de So Paulo (UNIFESP) in So Paulo, Brazil; Koc University in Istanbul, Turkey; the University of Pennsylvania Perelman School of Medicine; the Philadelphia Veterans Affairs Medical Center; and Washington State University. The research was supported in part by grants from the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH), and the Institutional Development Fund from the Center for Applied Genomics at The Childrens Hospital of Philadelphia.

To request a copy of the study, A Novel BHLHE41Variant is Associated with Short Sleep and Resistance to Sleep Deprivation in Humans, or to arrange an interview with the study author or an AASM spokesperson, please contact Communications Coordinator Lynn Celmer at 630-737-9700, ext. 9364, or lcelmer@aasmnet.org.

The monthly, peer-reviewed, scientific journal Sleep is published online by the Associated Professional Sleep Societies LLC, a joint venture of the American Academy of Sleep Medicine and the Sleep Research Society. The AASM is a professional membership society that improves sleep health and promotes high quality patient centered care through advocacy, education, strategic research, and practice standards (www.aasmnet.org). A searchable directory of AASM accredited sleep centers is available at http://www.sleepeducation.org.

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AASM News Archive - American Academy of Sleep Medicine

Gene therapy is a novel approach to treat, cure, or ultimately prevent disease by changing the expression of a persons genes. Gene therapy is in its infancy, and current therapies are primarily experimental, with most human clinical trials still in the research stages.

How does gene therapy work? Genes are composed of DNA that carries information needed to make proteins the building blocks of our bodies. Variations in the DNA sequence or code of a gene are called mutations, which often are harmless but sometimes can lead to serious disease. Gene therapy treats disease by repairing dysfunctional genes or by providing copies of missing genes.

To reverse disease caused by genetic damage, researchers isolate normal DNA and package it into a vehicle known as a vector, which acts as a molecular delivery truck. Vectors composed of viral DNA sequences have been used successfully in human gene therapy trials. Doctors infect a target cell usually from a tissue affected by the illness, such as liver or lung cellswith the vector. The vector unloads its DNA cargo, which then begins producing the proper proteins and restores the cell to normal. Problems can arise if the DNA is inserted into the wrong place in the genome. For example, in rare instances the DNA may be inserted into a regulatory gene, improperly turning it on or off, leading to cancer.

Researchers continue to optimize viral vectors as well as develop non-viral vectors that may have fewer unexpected side effects. Nonviral gene delivery involves complexing DNA with an agent that allows it to enter a cell nonspecifically. DNA delivered in this manner is usually expressed for only a limited time because it rarely integrates into the host cell genome.

Initial efforts in gene therapy focused on delivering a normal copy of a missing or defective gene, but current programs are applying gene delivery technology across a broader spectrum of conditions. Researchers are now utilizing gene therapy to :

What diseases could be treated with gene therapy? About 4,000 diseases have been traced to gene disorders. Current and possible candidates for gene therapy include cancer, AIDS, cystic fibrosis, Parkinsons and Alzheimers diseases, amyotrophic lateral sclerosis (Lou Gehrig's disease), cardiovascular disease and arthritis.

In cases such as cystic fibrosis or hemophilia, disease results from a mutation in a single gene. In other scenarios like hypertension or high cholesterol, certain genetic variations may interact with environmental stimuli to cause disease.

Has gene therapy been successfully used in humans? Gene therapy is likely to be most successful with diseases caused by single gene defects. The first successful gene therapy on humans was performed in 1990 by researchers at the National Institutes of Health. The therapy treated a four-year-old child for adenosine deaminase (ADA) deficiency, a rare genetic disease in which children are born with severe immunodeficiency and are prone to repeated serious infections.

Since 1990, gene therapy had been tested in human clinical trials for treating such diseases as severe combined immunodeficiency disease (SCID), cystic fibrosis, Canavan's disease, and Gaucher's disease. In 2003, more than 600 gene therapy clinical trials were under way in the United States but only a handful of these are in advanced stages. SCID, in which children lack natural defenses against infection and can only survive in isolated environments, remains the only disease cured by gene therapy.

Are genetic alterations from gene therapy passed on to children? Gene therapy can be targeted to somatic (body) or germ (egg and sperm) cells. In somatic gene therapy, the patients genome is changed, but the change is not passed along to the next generation. In germline gene therapy, the patients egg or sperm cells are changed with the goal of passing on changes to their offspring. Existing gene therapy treatments and experiments are all somatic.

Germline gene therapy is not being actively investigated in larger animals and humans for safety and ethical reasons. In September 2000, the American Association for the Advancement of Science (AAAS) called for a moratorium on attempts to cure genetic diseases through human germline gene therapy. While its report supported expanded basic research in the field of clinical gene therapy, AAAS concluded that neither science nor society is ready for germline gene therapy research.

Learn more about federal policies and regulations protecting those who volunteer to participate in biomedical research.

Sources U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome Program American Society of Gene Therapy Gene-Cell, Inc. Targeted Genetics Corp.

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Gene Therapy - American Medical Association

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

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Gene Therapy Clinical Trials Worldwide - A B E D I A

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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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]

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Gene - Wikipedia, the free encyclopedia

Gene therapy, or the use of genetic manipulation for disease treatment, is derived from advances in genetics, molecular biology, clinical medicine, and human genomics. Molecular medicine, the application of molecular biological techniques to disease treatment and diagnosis, is derived from the development of human organ transplantation, pharmacotherapy, and elucidation of the human genome. An Introduction to Molecular Medicine and Gene Therapy provides a basis for interpreting new clinical and basic research findings in the areas of cloning, gene transfer, and targeting; the applications of genetic medicine to clinical conditions; ethics and governmental regulations; and the burgeoning fields of genomics, biotechnology, and bioinformatics. By dividing the material into three sections - an introduction to basic science, a review of clinical applications, and a discussion of the evolving issues related to gene therapy and molecular medicine-this comprehensive manual describes the basic approaches to the broad range of actual and potential genetic-based therapies.

In addition, An Introduction to Molecular Medicine and Gene Therapy:

This textbook offers a clear, concise writing style, drawing upon the expertise of the authors, all renowned researchers in their respective specialties of molecular medicine. Researchers in genetics and molecular medicine will all find An Introduction to Molecular Medicine and Gene Therapy to be an essential guide to the rapidly evolving field of gene therapy and its applications in molecular medicine.

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An Introduction to Molecular Medicine and Gene Therapy ...