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Tag: genetic

  • JScreen Honors February as National Cancer Prevention Month

    JScreen Honors February as National Cancer Prevention Month

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    Press Release


    Feb 15, 2022

    JScreen, a national non-profit public health initiative dedicated to preventing genetic diseases, announces its participation in National Cancer Prevention Month in February of 2022. JScreen is focused on raising awareness about hereditary cancers and works in association with Emory University’s Department of Human Genetics to make cancer genetic testing affordable and accessible. To do this, JScreen offers its CancerGEN test: an easy, at-home saliva test that screens for genetic risks for many types of cancer. The mission of JScreen is to ensure healthy futures through genetic testing and education, and it will be stepping up that mission this February.

    The pandemic has made clear to everyone the importance of healthcare and taking preventative measures against disease. With the majority of Cancer Awareness Months occurring in the fall, such as Breast Cancer in October, and Prostate and Ovarian Cancer in September, JScreen emphasizes the importance of maintaining the same level of awareness year-round. CancerGEN, JScreen’s cancer genetic test, analyzes more than 60 cancer susceptibility genes associated with hereditary risks for breast, ovarian, prostate, colorectal, skin, and many other cancers. If a person tests positive, they are able to take action for the prevention or early detection of associated cancers. By providing convenient, at-home access to cutting-edge genetic testing technology, education, and genetic counseling services, JScreen strives to minimize the incidence of hereditary cancers and helps to ensure bright and healthy futures.

    “We understand the financial challenges and accessibility issues facing many Americans,” says Hillary Regelman, Director of National Outreach and Marketing at JScreen. “We know from statistics that half of all men and a third of all women will develop cancer at some point in their lives. We are working toward a future where those numbers aren’t quite so staggering, and that starts with awareness and eliminating barriers to genetic testing.”

    Getting tested through JScreen is easy. All one has to do to receive the simple at-home test is to sign up online. The person will then provide a saliva sample and use the pre-paid postage to mail it in (JScreen was quarantine-friendly even before the pandemic). JScreen’s tests use state-of-the-art genetic sequencing technology to ensure highly accurate results. The robust cancer testing panel includes genes that are actionable, meaning something can be done to help prevent cancer if a person tests positive. JScreen provides results in three weeks or less. A unique feature of JScreen’s process is that it provides access to licensed genetic counselors who provide consults via phone or secure video conferencing to ensure that people understand their results.

    In addition to their CancerGEN test, JScreen offers ReproGEN, a reproductive carrier screening test that gives prospective parents information about the risk of genetic diseases in their future children so they can plan for the health of their families. 

    As a not-for-profit home education and genetic screening program, one of JScreen’s goals is to make testing affordable. With insurance, CancerGEN costs $199 and ReproGEN costs $149, and genetic counseling is included. JScreen offers need-based financial assistance for qualifying individuals.

    The proof of JScreen’s passion for saving lives is in the incredible stories they hear, the healthy babies that are born, and the people who now take action to avoid future cancer diagnoses. As the team at JScreen likes to say: “We are a small team with a huge footprint.”

    Media Contact:

    Hayden Hammerling

    973.405.4600

    hayden@bendergrouppr.com

    Source: JScreen

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  • Landmark Study Seeks Participants With VCFS-Related Psychosis to Help Create Biobank of Human Neural Tissue to Develop Innovative Treatments

    Landmark Study Seeks Participants With VCFS-Related Psychosis to Help Create Biobank of Human Neural Tissue to Develop Innovative Treatments

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    The Virtual Center for Velo-Cardio-Facial Syndrome collaborates with the Center for Precision Neuropsychiatry based in the Department of Psychiatry at Columbia University Vagelos College of Physicians and Surgeons

    Press Release



    updated: Oct 23, 2019

    A landmark study is calling for at least 50 people in the U.S. with Velo-Cardio-Facial Syndrome (VCFS)-related psychosis to provide blood samples to create the world’s largest VCFS biobank to date of tiny spheres of neural tissue called “cerebral organoids.” Given that current medications used to treat VCFS-related psychosis are largely ineffective, researchers hope to discover novel and effective treatments for this condition by studying these cerebral organoids.

    The Center for Precision Neuropsychiatry, founded by Sander Markx, M.D., and based in the Department of Psychiatry at Columbia University Vagelos College of Physicians and Surgeons, is collaborating in this research with the Virtual Center for Velo-Cardio-Facial Syndrome, founded by Robert J. Shprintzen, Ph.D. VCFS was first described in 1978 by Dr. Shprintzen and he was the first to report that psychosis is a common clinical feature of the syndrome.

    VCFS, also known as DiGeorge syndrome, Shprintzen syndrome, and 22q11.2 Deletion Syndrome, is caused by a deletion of DNA from one copy of a specific region of chromosome 22 containing more than two dozen genes. It is the most common genetic multiple congenital anomaly syndrome and the most common genetic cause of psychosis. About one-third of people with VCFS develop psychosis and 1-2% of all patients with schizophrenia have a 22q11.2 microdeletion.

    The researchers hope to learn more about how psychosis develops, how better treatments might be identified for this condition, and why people with VCFS develop mental illness at such a high rate. Ultimately, their intent is to develop effective treatments for people at high genetic risk for developing psychiatric illness.

    A total of 50 participants with VCFS who are genetically confirmed to have a 22q11.2 deletion and are diagnosed with a psychotic disorder will be asked to provide a small blood sample for this study. In addition, the researchers will ask an unaffected first-degree family member of the donor (either same-sex sibling or same-sex parent) to contribute a blood sample to serve as a control subject. Phlebotomists will visit the participants to draw the blood in the comfort of their homes or location of their choice.

    While some of the study participants will come from a pool of cases currently registered at the Virtual Center, more may be needed: the study is open to interested parties diagnosed with VCFS who live in the 48 U.S. contiguous states. VCFS patients who meet the requirements and want to participate in the study can register at www.vcfsmentalillness.org or email info@vcfscenter.org for further information.

    Sander Markx, M.D., Assistant Professor of Psychiatry at Columbia University Vagelos College of Physicians and Surgeons and Principal Investigator, has a long-standing interest in VCFS. “We need to reach a better understanding of what goes on in the developing brain that ultimately gives rise to the increased risk for psychosis in patients with this genetic condition,” he states. “Improved understanding will help us develop novel, more efficacious medications that target specific disease mechanisms so we can achieve better clinical outcomes with fewer side effects for our patients. We hope that our process will guide future treatment for mental and cognitive disorders and ultimately reveal basic biology of debilitating disorders, such as schizophrenia and autism.”

    As Robert J. Shprintzen, Ph.D., President and Chairman of the Board at the Virtual Center for VCFS, observes, “This study is of significant importance for sufferers of VCFS all over the world. Although VCFS is the most common genetic cause of psychosis and the genetic mutation that causes VCFS has been known for more than 25 years, so far, treatments for these problems have largely been ineffective. We expect that our collaborative research with eminent colleagues at one of the most highly regarded psychiatric facilities in the world will translate to more effective patient care.”

    Additional information about the blood draw

    The blood sample from the subject and his/her relative will be used to develop iPSCs and organoids to better understand VCFS biology and responses to medications. For each case, it will be determined whether he/she suffers from a psychotic condition. Following this initial study, the team plans to run clinical trials of medications that show promise in the organoid response.

    The study will use induced pluripotent stem cells (iPSCs) obtained from donor blood. White blood cells are reprogrammed to become stem cells and those stem cells are grown into cerebral organoids, which will be exposed to drug libraries to determine how the brain tissue responds. This type of research, called translational research, yields results that could ultimately help lead to the identification and development of new treatments for this debilitating condition.

    About The Virtual Center for Velo-Cardio-Facial Syndrome, Inc.

    The Virtual Center for Velo-Cardio-Facial Syndrome, Inc. is an open-access 501(c)3, internet-based charitable organization that provides personalized information to people whose lives have been touched by VCFS and who are seeking applicable research and clinical expertise regarding the management of the syndrome. There is no charge for this service, which is funded by voluntary donations.

    About Velo-Cardio-Facial Syndrome

    Velo-Cardio-Facial syndrome (VCFS) is the most common genetic multiple congenital anomaly disorder in humans. It is caused by a microdeletion of DNA from chromosome 22, typically encompassing approximately 40 genes. It is known by a number of other names, including DiGeorge syndrome, conotruncal anomalies face syndrome, Sedlačková syndrome and, more recently, 22q11.2 Deletion Syndrome. Approximately 200 distinct congenital anomalies and disorders are associated with VCFS. Recent data has shown that more than 1 in every 1,000 pregnancies have the deletion from chromosome 22 that causes VCFS. Because so many problems can occur in people with VCFS, it is difficult to have all of the specialists with special knowledge of the syndrome needed for required diagnosis and management together in one location. The Virtual Center allows experts to spread knowledge and information pertinent to individual cases anywhere in the world, thereby sharing expertise and educating local practitioners at the same time.

    Press Contacts:

    The Virtual Center for Velo-Cardio-Facial Syndrome, Inc.

    Robert J. Shprintzen, Ph.D.
    E-mail: info@vcfscenter.com
    Tel: 315-559-4685
    Web: www.vcfsmentalillness.org

    Fortress Strategic Communications for The Virtual Center for Velo-Cardio-Facial Syndrome, Inc.

    Evan Bloom, CEO
    Tel: 315-744-4912
    E-mail: evan@fortresscomms.com
    Web: www.fortresscomms.com

    Source: The Virtual Center for Velo-Cardio-Facial Syndrome, Inc.

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