Category Archives: Genetic Medicine

By Sharon Begley

NEW YORK (Reuters) - They're called discreet DNA samples, and the Elk Grove, California, genetic-testing company easyDNA says it can handle many kinds, from toothpicks to tampons.

Blood stains from bandages and tampons? Ship them in a paper envelope for paternity, ancestry or health testing. EasyDNA also welcomes cigarette butts (two to four), dental floss ("do not touch the floss with your fingers"), razor clippings, gum, toothpicks, licked stamps and used tissues if the more standard cheek swab or tube of saliva isn't obtainable.

If the availability of such services seems like an invitation to mischief or worse - imagine a discarded tissue from a prospective employee being tested to determine whether she's at risk for an expensive disease, for instance - the Presidential Commission for the Study of Bioethical Issues agrees.

On Thursday it released a report on privacy concerns triggered by the advent of whole genome sequencing, determining someone's complete DNA make-up. Although sequencing "holds enormous promise for human health and medicine," commission chairwoman Amy Gutmann told reporters on Wednesday, there is a "potential for misuse of this very personal data."

"In many states someone can pick up your discarded coffee cup and send it for (DNA) testing," said Gutmann, who is the president of the University of Pennsylvania.

"It's not a fantasy to think about how, without baseline privacy protection, people could use this in a way that would be really detrimental," such as by denying someone with a gene that raises their risk of Alzheimer's disease long-term care insurance, or to jack up life insurance premiums for someone with an elevated genetic risk of a deadly cancer that strikes people in middle age.

"Those who are willing to share some of the most intimate information about themselves for the sake of medical progress should be assured appropriate confidentiality, for example, about any discovered genetic variations that link to increased likelihood of certain diseases, such as Alzheimer's, diabetes, heart disease and schizophrenia," Gutmann said.

The commission took on the issue because whole genome sequencing is poised to become part of mainstream medical care, especially by personalizing medical treatments based on a patient's DNA.

$1,000 GENOME

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Citing privacy concerns, U.S. panel urges end to secret DNA testing

ScienceDaily (Oct. 8, 2012) McGill researchers have identified a small region in the genome that conclusively plays a role in the development of psychiatric disease and obesity. The key lies in the genomic deletion of brain-derived neurotrophic factor, or BDNF, a nervous system growth factor that plays a critical role in brain development.

To determine the role of BDNF in humans, Prof. Carl Ernst, from McGill's Department of Psychiatry, Faculty of Medicine, screened over 35,000 people referred for genetic screening at clinics and over 30,000 control subjects in Canada, the U.S., and Europe. Overall, five individuals were identified with BDNF deletions, all of whom were obese, had a mild-moderate intellectual impairment, and had a mood disorder. Children had anxiety disorders, aggressive disorders, or attention deficit-hyperactivity disorder (ADHD), while post-pubescent subjects had anxiety and major depressive disorders. Subjects gradually gained weight as they aged, suggesting that obesity is a long-term process when BDNF is deleted.

"Scientists have been trying to find a region of the genome which plays a role in human psychopathology, searching for answers anywhere in our DNA that may give us a clue to the genetic causes of these types of disorders," says Prof. Ernst, who is also a researcher at the Douglas Mental Health University Institute. "Our study conclusively links a single region of the genome to mood and anxiety."

The findings, published in the Archives of General Psychiatry, reveal for the first time the link between BDNF deletion, cognition, and weight gain in humans. BDNF has been suspected to have many functions in the brain based on animal studies, but no study had shown what happens when BDNF is missing from the human genome. This research provides a step toward better understanding human behaviour and mood by clearly identifying genes that may be involved in mental disorders.

"Mood and anxiety can be seen like a house of cards. In this case, the walls of the house represent the myriad of biological interactions that maintain the structure," says Ernst, "Studying these moving parts can be tricky, so teasing apart even a single event is important. Linking a deletion in BDNF conclusively to mood and anxiety really tells us that it is possible to dissect the biological pathways involved in determining how we feel and act.

We now have a molecular pathway we are confident is involved in psychopathology," adds Ernst, "Because thousands of genes are involved in mood, anxiety, or obesity, it allows us to root our studies on a solid foundation. All of the participants in our study had mild-moderate intellectual disability, but most people with these cognitive problems do not have psychiatric problems -- so what is it about deletion of BDNF that affects mood? My hope now is to test the hypothesis that boosting BDNF in people with anxiety or depression might improve brain health."

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The above story is reprinted from materials provided by McGill University, via EurekAlert!, a service of AAAS.

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Genetic mutation linked to psychiatric disease and obesity

TAMPA A new cocktail of cancer-fighting drugs can help patients with advanced melanoma, a Moffitt Cancer Center researcher has reported in a study to be published in the New England Journal of Medicine.

The new research builds on recent advances in therapies for advanced melanoma that center on targeting its genetic fingerprint. Until recently, the deadly skin cancer was considered nearly untreatable in its later stages.

Drugs now are available that can block a mutation in a gene called BRAF, which fuels the cancer. The mutation is present in about half of melanoma cases. If caught early, lesions can be removed surgically, but doctors traditionally had few options once melanoma spreads throughout the body.

Dr. Jeffrey Weber, director of Moffitt's Melanoma Research Center of Excellence, was among the leaders of a national team that sought better results by combining drug therapies to inhibit the BRAF mutation and overcome the tumor's ability to grow resistant to the drugs.

The results of their complex study, involving about 250 patients, are now available online and will publish in print in the Nov. 15 edition of the prestigious New England Journal of Medicine.

Researchers found they could improve the outcome for patients through a combination of two drugs, dabrafenib and trametinib. Patients receiving the combination therapy saw their cancers go into remission for 9 1/2 months, compared to 5 1/2 months for those on dabrafenib, a BRAF inhibitor, alone.

Patients receiving the combination treatment also saw their tumors shrink at a higher rate than those receiving the single drug.

"This is an evolutionary development which has important implications," Weber said. "What this shows is you can, to some degree, reverse (drug) resistance."

Additionally, researchers saw more patients respond to the combination therapy. And fewer of them experienced common side effects, which can include additional (though less serious) skin cancers.

The research was funded by GlaxoSmithKline, which makes the two drugs. The study involved about two dozen researchers at major cancer centers in the United States and Australia.

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Moffitt Cancer Center researcher advances melanoma treatment in New England Journal of Medicine

BUDAPEST, HUNGARY--(Marketwire - Oct 8, 2012) - Genetic Immunity ( OTCBB : PWRV ) is pleased to announce the GMP approval of its manufacturing facility. The development of the GMP manufacturing process and the facility was financed from a $4 million grant received from the Hungarian Office for Innovation and Technology.

"To establish a GMP manufacturing facility is a major milestone for Genetic Immunity. Initially, it will serve our need to produce high quality ingredients to our nanomedicine products tested in clinical trials. We developed our GMP manufacturing technology and processes to be suitable to upgrade them to a commercial scale. This approval demonstrates the capability of our team to advance our DermaVir HIV-specific immunotherapy to the market, and our new candidate products from the bench to the bedside,"said Dr. Julianna Lisziewicz, CEO of Genetic Immunity.

The GMP status is provided for the manufacturing and the validated quality control processes of the Active Pharmaceutical Ingredient of our immunotherapeutic nanomedicine products.Genetic Immunity has a state of the art R&D laboratory that includes a dedicated GMP facility. Due to the platform feature of our plasmid DNA based nanomedicine technology, only the nucleotide sequence of the DNA is specific for the target disease. Consequently, the manufacturing and the quality control process of the lead and all pipeline products is the same. This means that the GMP facility can be used for the manufacturing all products of Genetic Immunity regardless of clinical stage. The common GMP manufacturing technology simplifies the regulatory process, saves costs and time in clinical development, and reduces time to market approval of medicinal products.

"With this GMP facility we have successfully closed the manufacturing gap between clinical trial scale and the commercial production. With continuous development of the manufacturing processes we are able to control the costs and achieve a competitive price for each market segments at an attractive ROI ratio for every product. We are strongly focused on the market and are well prepared for large scale manufacturing for our planned Expanded Access program of DermaVir," said Mr. Viktor Rozsnyay, CEO of Power of the Dream Ventures.

Genetic Immunity is a wholly owned subsidiary of Power of the Dream Ventures, Inc. ( OTCBB : PWRV ).

About Genetic Immunity Genetic Immunity is part of Power of the Dream Ventures, Inc. (PWRV) committed to bring innovative Hungarian products and services to public. GeneticImmunity is a clinical stage technology company committed to discovering, developing, manufacturing and commercializing a new class of immunotherapeutic biologic drugs for the treatment of viral infections, cancer and allergy. The Company's two distinguished technology platforms will revolutionize the treatment of these chronic diseases. Our Langerhans cell targeting nanomedicines are exceptional in both safety and immune modulating activity boosting specific Th1-type central memory T cells. Such immune responses differ from antibodies induced by vaccines. These are essential to eliminate infected cells or cancerous cells, and balance the immune reactivity in response to allergens. Our IT team generated a complex algorithm to match the mechanism of action of our drugs with clinical efficacy. In the future, we will predict the clinical and immunological benefits of our drugs based on the patient's disease and genomic background. The unique mixture of our technologies represents the next generation of personalized but not individualized medicines ensuring a longer and higher economic return. Genetic Immunity's primary focus is the development of DermaVir that acts to boost the immune system of HIV-infected people to eliminate the infected cells that remained in the reservoirs after successful antiretroviral treatment. Three clinical trials conducted in EU and US showed that DermaVir immunizations were as safe as placebo and only four sequential patch treatments were required to reduce the HIV infected cells in the blood within 24 weeks.

In 1988 Drs. Lisziewicz and Lori founded the Genetic Immunity in the US after they described the 1st patient whose immune system was boosted to control HIV after treatment interruption (Lisziewicz et al. New England Journal of Medicine 1999) that lead to the invention of DermaVir. The Company's innovative technology team directed by Dr. Lisziewicz, a champion of immune busting therapies, is now headquartered in Budapest (Hungary). For more information please visit http://www.geneticimmunity.com

Forward-looking statements Statements in this press release that are not strictly historical in nature constitute forward-looking statements qualified in their entirety by this cautionary statement. Forward-looking statements include, without limitation, statements regarding business combination and similar transactions, prospective performance and opportunities and the outlook for the companies' businesses, including, without limitation, the ability of PWRV to advance Genetic Immunity's product pipeline or develop a curative immunotherapy for HIV, performance and opportunities and regulatory approvals, the anticipated timing of data from clinical data; the possibility of unfavorable results of the company's clinical trials; filings and approvals relating to the transaction; the expected timing of the completion of the transaction; the ability to complete the transaction considering the various closing conditions; and any assumptions underlying any of the foregoing. Investors are cautioned that any such forward-looking statements are not guarantees of future performance and involve risks and uncertainties and are cautioned not to place undue reliance on these forward-looking statements. Actual results may differ materially from those currently anticipated due to a number of risks and uncertainties. All forward-looking statements are based on information currently available to the companies, and the companies assume no obligation to update any such forward-looking statements.

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Genetic Immunity Receives GMP Certification for In-House Manufacturing Facility

Editor's Choice Academic Journal Main Category: Parkinson's Disease Also Included In: Genetics Article Date: 08 Oct 2012 - 0:00 PDT

Current ratings for: Parkinson's Risk Linked To Specific Genetic Variants

The researchers say they have carried out the first ever genome-wide evaluation of genetic variants linked to Parkinson's disease.

Jeanne Latourelle, DSc, and Richard H. Myers, PhD, explained that a recent study published by the PDGC (PD Genome Wide Association Study Consortium) had shown that people with genetic variants in or close to the genes HLA, MAPT, SNCA, RIT2, and GAK/DGKQ had a higher-than-average risk of developing Parkinson's disease. However, in that study, the mechanism behind the higher risk had not been determined.

Boston University School of Medicine reported in PLOS ONE in July 2012 that the FOXO1 gene plays an important part in the pathological mechanisms of Parkinson's disease. That study is said to have used the largest number of brain samples used in a wide-genome expression study of PD.

Latourelle suggested that perhaps a genetic variant might change how a gene is expressed in the brain, resulting in a higher risk of developing Parkinson's.

The scientists say that their findings may pave the way for treatments to correct the genetic variants and thus possibly reverse the effects of Parkinson's disease.

They determined gene expression by using a microarray that screened what the effects of genetic variants were on the expression of genes located very near the variant - called cis-effects - and genes that were far from the variant, such as genes on a totally different chromosome, called trans-effect. To recap - cis-effects are those on very nearby genes, while trans-effect are those on distant genes.

When they analyzed the cis-effects, it was observed that many genetic variants in the MAPT region showed a significant association with the expression of multiple nearby genes, including gene LOC644246, the duplicated genes LRRC37A and LRRC37A2, and the gene DCAKD.

They also observed significant cis-effects between variants in the HLA region on chromosome 6 and HLA-DQA1 and HLA-DQA1, two genes that were very near. When examining for trans-effects, they found 23 DNA sequence variations that were statistically significant in variants from the RIT2, MAPT, and SNCA genes.

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Parkinson's Risk Linked To Specific Genetic Variants

ScienceDaily (Oct. 5, 2012) Boston University School of Medicine (BUSM) investigators have led the first genome-wide evaluation of genetic variants associated with Parkinson's disease (PD). The study, which is published online in PLOS ONE, points to the involvement of specific genes and alterations in their expression as influencing the risk for developing PD.

Jeanne Latourelle, DSc, assistant professor of neurology at BUSM, served as the study's lead author and Richard H. Myers, PhD, professor of neurology at BUSM, served as the study's principal investigator and senior author.

A recent paper by the PD Genome Wide Association Study Consortium (PDGC) confirmed that an increased risk for PD was seen in individuals with genetic variants in or near the genes SNCA, MAPT, GAK/DGKQ, HLA and RIT2, but the mechanism behind the increased risk was not determined.

"One possible effect of the variants would be to change the manner in which a gene is expressed in the brains, leading to increased risk of PD," said Latourelle.

To investigate the theory, the researchers examined the relationship between PD-associated genetic variants and levels of gene expression in brain samples from the frontal cortex of 26 samples with known PD and 24 neurologically healthy control samples. Gene expression was determined using a microarray that screened effects of genetic variants on the expression of genes located very close to the variant, called cis-effects, and genes that are far from the variant, such as those on a completely different chromosome, called trans-effects.

An analysis of the cis-effects showed that several genetic variants in the MAPT region showed a significant association to the expression of multiple nearby genes, including gene LOC644246, the duplicated genes LRRC37A and LRRC37A2 and the gene DCAKD. Significant cis-effects were also observed between variants in the HLA region on chromosome 6 and two nearby genes HLA-DQA1 and HLA-DQA1. An examination of trans-effects revealed 23 DNA sequence variations that reached statistical significance involving variants from the SNCA, MAPT and RIT2 genes.

"The identification of the specific altered genes in PD opens opportunities to further study them in model organisms or cell lines with the goal of identifying drugs which may rectify the defects as treatment for PD," said Myers.

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Genetic variants' role in increasing Parkinson's disease risk investigated