Archive for January, 2020

XconomyBoston

JP Morgans annual healthcare conference convenes in San Francisco this week and Generation Bio CEO Geoff McDonough is betting gene therapy will be among the discussion topics. While such therapies now offer ways to address some rare diseases that previously had no treatment, they also have limitations.

Generation Bio is among the new wave of companies trying to avoid or overcome the challenges facing the current slate of gene therapies. To support its efforts, the Cambridge, MA-based company has raised an additional $110 million for its most advanced programs while also aiming for something more.

It gets us to the clinic, although its almost certain well take the company public ahead of that, McDonough says.

The Series C financing includes crossover investors, firms that back both private and public companies and whose involvement is viewed as a sign a company is preparing to go public. T. Rowe Price led Generation Bios latest round, joined by Farallon, and Wellington Management Company. Also participating in the round were earlier investors Atlas Venture, Fidelity, Invus, Casdin, Deerfield, Foresite Capital, and an entity associated with SVB Leerink. The latest round comes two years after Generation Bio closed a $100 million Series B round.

Currently available gene therapies (and some that are still in development) use an engineered virus to deliver their genetic payloads. But the virus can be a problem. Some people have preexisting antibodies to adeno-associated virus (AAV), the virus used in many gene therapies. And if patients dont already have those antibodies, they can develop them after being dosed with the treatment. That means patients cant receive another dose if they need it, and so far, the durability of gene therapies is not yet known.

Generation Bio avoids viral delivery altogether. The companys gene therapies use closed-ended DNA, or ceDNA, packaged inside a lipid nanoparticle. McDonough says it works just like AAV and it has the added advantage of being easier and less expensive to manufacture compared to AAV-based gene therapies. He adds that if patients need another dose, antibodies wont be a problem. But the company still needs to show that in clinical trials.

Generation Bios most advanced programs are for the blood disorder hemophilia A and phenylketonuria (PKU), an inherited metabolic disorder. There are other companies developing gene therapies for both diseases. Pfizer (NYSE: PFE) has taken over development of SB-525, a hemophilia A gene therapy candidate initially developed by its partner, Sangamo Therapeutics (NASDAQ: SGMO). BioMarin Pharmaceutical (NASDAQ: BMRN) on Monday announced that US and UK regulators cleared the company to begin clinical testing of BMN 307, its experimental gene therapy for PKU. Both experimental treatments use AAV to deliver the therapies to cells.

Besides supporting its hemophilia A and PKU clinical research, McDonough says the new financing will enable his company to look at other rare metabolic disorders such as Wilson and Gaucher disease. He adds that the company will also explore how its technology can be used to deliver therapies to more tissues in the body, such as skeletal tissue and the retina. By being able to reach more tissues, the goal is to expand the scope of gene therapy beyond rare diseases and bring it to the masses, he explains.

McDonough says Generation Bio has been careful not to work with other companies because its technology was still in development. But now that the technology is more mature, the biotech will explore research alliances with larger pharmaceuticalfirms.

I think we will do a partnership this year, he says. The question is in what domain and with which partner.

Photo by Jeremy Bishop on Unsplash

Frank Vinluan is an Xconomy editor based in Research Triangle Park. You can reach him at fvinluan [[at]] xconomy.com.

Read the original:
Generation Bio Pockets $110M for Next Wave of Gene Therapy, IPO Plans - Xconomy

NEW YORK and GAINESVILLE, Fla., Jan. 13, 2020 /PRNewswire/ --The Muscular Dystrophy Association (MDA) and AavantiBio, a biotechnology company developing a gene-targeting therapy for Friedreich's ataxia (FA), today announced the award of MDA Venture Philanthropy (MVP) funding totaling $1,076,232 to advance AavantiBio's phase 2 clinical trial of a gene-replacement therapy for the disease.

MVP is MDA's drug development program, which is exclusively focused on funding the discovery and clinical application of treatments and cures for neuromuscular disorders. MVP evaluates and makes targeted investments in for-profit and not-for-profit companies and academics developing therapeutics.

FA is a rare, hereditary disease that causes damage to parts of the spinal cord and brain, and there is currently no cure. AavantiBio was founded with the aim of developing an effective treatment for the disease and improving the lives of FA patients.

"With the approval of several first-time gene-targeting therapies for neuromuscular diseases over the past several years, including the first-ever gene-replacement therapy for spinal muscular atrophy, our community should have much to hope for as more and more therapies continue to be developed," says Lynn O'Connor Vos, MDA's president and CEO. "MDA is thrilled to be a part of the quest to help further develop the first gene-targeting therapy for the treatment of Friedreich's ataxia. By partnering with AavantiBio, together we can address the unmet need faced by patients who live with this genetic disease, for which there are still no treatments and no cures."

Co-founders Manuela Corti, PT, PhD, assistant professor of Pediatrics at the University of Florida, Gainesville, and Barry Byrne, MD, PhD, associate chair of Pediatrics and director of the Powell Gene Therapy Center at UF, started working with the FA community five years ago and are thrilled about their new partnership with MDA.

"This is a great opportunity for AavantiBio, and we're thankful to the MDA for their generous contribution," Dr. Corti says. "We hope to strengthen our collaboration as we work together on this project."

Dr. Corti and Dr. Byrne aim to include both adults and children who have FA in their clinical trials, paving the way for new solutions.

"We're delighted to take the next step in fulfilling our commitment to patients and families living with FA based on this investment from MDA," Dr. Byrne says. "We're looking forward to initiating screening for the first clinical study and a pivotal study in FA before the end of the year. The endorsement and investment from the MDA will be key to our programmatic growth."

MDA's investment will help accelerate AavantiBio's mission and begin production of the clinical gene vector for its therapy program. Clinical trials are expected to begin in 2020.

Dr. Corti was previously awarded an MDA research grant to develop and test a gene-replacement therapy in a mouse model of FA. With the current funding, AavantiBio will sponsor a study at the University of Florida led by Sub Subramony, MD, professor of Neurology. The clinical trial will assess changes in neurological and cardiac function in patients with FA treated with both intravenous (systemic) and intrathecal (into-the-spine) injections of the company's gene-replacement therapy for the mutated FXN gene.

About Friedreich's ataxia

FA is a mitochondrial disease. Mutations in the frataxin gene (FXN) lead to decreased production of the frataxin protein, resulting in diminished energy production in cells, including those of the nervous system and heart. FA's major neurological symptoms include muscle weakness and ataxia, or a loss of balance and coordination. FA mostly affects the spinal cord and the peripheral nervesthat connect the spinal cord to the body's muscles and sensory organs, but it can also affect the cerebellum (causing ataxia) and heart. The prevalence of FA has been estimated at 1 in every 50,000 individuals worldwide. Symptoms typically begin between the ages of 5 and 15 years, and the rate of progression varies from person to person. There currently are no effective cures or treatments for FA.

About AavantiBio

Founded in 2017 and based inGainesville, Fla., AavantiBio is a biotechnology companyfounded on the vision of creating the first effective treatment for FA. The company's gene-replacement therapy approach uses an adeno-associated virus (AAV) vector to deliver a functional copy of the FXN gene to a patient's cells.

The co-founders bring more than 30 years of research experience in the field of neuromuscular disease, including their current work focusing on FA. Dr. Corti has more than 10 years of research experience in gene therapy approaches for the treatment of Duchenne muscular dystrophy and Pompe disease. Dr. Byrne has made significant contributions to theunderstanding and treatment of Pompe disease. He was previously awarded nearly $2 million in MDA funding to conduct foundational research in developing and testing AAV vectors in animal models of muscular dystrophy, and he was the first to show that AAV vectors are able to effectively express therapeutic genes in striated muscle cells.

About the Muscular Dystrophy Association

MDA is committed to transforming the lives of people affected by muscular dystrophy, ALS, and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to approved, life-changing therapies across multiple neuromuscular diseases. We support the largest network of multidisciplinary clinics providing best-in-class care at more than 150 of the nation's top medical institutions, and each year thousands of children and young adults learn vital life skills and gain independence at MDA Summer Camp and through recreational programs. For more information visitmda.org.

View original content to download multimedia:http://www.prnewswire.com/news-releases/mda-awards-venture-philanthropy-funding-of-more-than-1m-to-aavantibio-to-develop-gene-targeting-therapy-for-friedreichs-ataxia-300985256.html

SOURCE Muscular Dystrophy Association

View original post here:
MDA Awards Venture Philanthropy Funding of More Than $1M to AavantiBio to Develop Gene-Targeting Therapy for Friedreich's Ataxia - P&T Community

The acquisition gives Veristat control of The Clinical Trial Company, a UK-based contract research organization (CRO) known by the abbreviation TCTC Group.

TCTC Group works out of two sites in the UK, a headquarters near Manchester, in northern England, and a specialist central nervous system (CNS) site in Scotland. Following the takeover, the two UK sites have become Veristats sole presence in Europe.

In North America, Veristat has positioned itself as a CRO focused on the needs of emerging, small and mid-sized biopharma companies. That positioning has led Veristat to have a role in a significant minority of drug development projects.

Across 2018, more than 10% of the drugs approved by the US Food and Drug Administration (FDA) had benefited from the support of Veristat. The FDA approvals brought the number of regulatory submissions supported globally by Veristat up above 75.

Having bought TCTC Group, Veristat is now positioned to spread the approach that brought it these successes to a new continent.

Explaining the motivation for the takeover, Veristat CEO Patrick Flanagan said, With the addition of TCTC Group, Veristat has gained a highly skilled team of experts to support our clients worldwide. Providing superior clinical services with our expanded team will enable us to better manage, recruit and run our clients trials on a global scale.

TCTC Groups CNS expertise also factored into Flanagans thinking. The Veristat CEO pointed to the industrys increased funding in CNS and gene therapy research to explain why he sees the field as a critical therapeutic category.

CNS is part of Veristats traditional breadth of focus. Most of the US CROs clinical trial work covers cancers, rare diseases, neurological disorders, cardiovascular disease and infectious diseases.

TCTC Group built up its expertise in the CNS field over the course of its 17-year history as an independent company, going as far as to create a dedicated division called The CNS Company.

More broadly, TCTC Group focused on products without a classical road map to approval. That focus led TCTC Group to work on advanced therapy medicinal products, such as cell and gene therapies, as well as orphan medicines and drug-device combinations.

Visit link:
CRO Veristat buys TCTC Group to expand in Europe - OutSourcing-Pharma.com

CAMBRIDGE, Mass., Jan. 13, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, announced that it has appointed John C. Martin, Ph.D., to its Board of Directors, effective today. Dr. Martin brings decades of executive leadership to Sareptas board, having played an instrumental role in building one of the worlds foremost biotechnology companies. During his 20-year tenure as chief executive officer of Gilead Sciences, he oversaw the growth of the company and development of its scientific portfolio into 24 marketed products.

Johns business record is unparalleled, and he brings expertise and insight gleaned from leading the long-term, transformational growth of one of the industrys premier companies that will add to the strength of the Sarepta board. We are incredibly fortunate to welcome him to the companys board of directors, saidM. Kathleen Behrens, Ph.D., Chairperson of Sareptas Board of Directors.

Having introduced curative therapies, Johns vision, acumen, and wisdom are unique in our industry. As Sarepta prepares to deliver one-time therapies for rare diseases, Johns strategic guidance as a member of the companys board will be invaluable as we work to change the model for how rare diseases are treated, said Doug Ingram, Sareptas president and chief executive officer.

Dr. Martin served as the Executive Chairman and Chairman of Gilead Sciences, Inc., from March 2016 through March 2019, after having served as Chairman and Chief Executive Officer from June 2008 through March 2016 and President and Chief Executive Officer from 1996 through May 2008. He joined Gilead in 1990 as Vice President, Research and Development. Prior to Gilead, Dr. Martin held several leadership positions at Bristol-Myers Squibb and Syntex Corporation. Martin currently serves on the Board of Directors at The Scripps Research Institute and Kronos Bio. Additionally, he served on the Centers for Disease Control/Health Resources and Services Administrations Advisory Committee on HIV and STD Prevention and Treatment and was a member of the Presidential Advisory Council on HIV/AIDS. In 2008, Dr. Martin was inducted into the National Academy of Engineering and, in 2019, he received the National Academy of Sciences Award for Chemistry in Service to Society.

Dr. Martin holds a Ph.D. in organic chemistry from the University of Chicago, an MBA from Golden Gate University and a B.S. degree in chemical engineering from Purdue University.

Heidrick & Struggles led the search process for Sarepta.

AboutSarepta TherapeuticsSarepta is at the forefront of precision genetic medicine, having built an impressive and competitive position in Duchenne muscular dystrophy (DMD) and more recently in gene therapies for Limb-girdle muscular dystrophy diseases (LGMD), Charcot-Marie-Tooth (CMT), MPS IIIA and other CNS-related disorders, totaling over 20 therapies in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. Sarepta is fueled by an audacious but important mission: to profoundly improve and extend the lives of patients with rare genetic-based diseases. For more information, please visit http://www.sarepta.com.

Forward-Looking StatementsThis press release contains forward-looking statements. Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the expectation that Dr. Martins expertise and insight will add to the strength of the Sarepta board and that Dr. Martins strategic guidance will be invaluable as Sarepta prepares to deliver one-time therapies for rare diseases; and Sareptas mission to profoundly improve and extend the lives of patients with rare genetic-based diseases.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: Sarepta may not be able to execute on its business plans, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its products to U.S. and ex-U.S. markets for various reasons including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, and regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2018 and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review Sarepta's 2018 Annual Report on Form 10-K and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc. Investors:Ian Estepan, 617-274-4052iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

See the original post here:
Sarepta Therapeutics Appoints Renowned Biotech Executive John C. Martin to its Board of Directors - GlobeNewswire

NEW YORK, Jan. 13, 2020 /PRNewswire/ --Actinium Pharmaceuticals, Inc. (NYSE AMERICAN: ATNM) ("Actinium"), announced today that it has entered into an agreement with the University of California, Davis (UC Davis) to utilize Actinium's Antibody Radiation-Conjugate or ARC apamistamab-I-131 for targeted conditioning and replace the chemotherapy conditioning being used in an ongoing Phase 1/2 stem cell gene therapy clinical trial. In the trial, patients with relapsed or refractory HIV-related lymphoma are being treated with autologous stem cell gene therapy. This is the first gene therapy clinical trial that will utilize ARC based conditioning. The clinical trial will be conducted at UC Davis and may be expanded to additional sites in the future.

Dr. Mehrdad Abedi, Professor, Hematology and Oncology at UC Davis and study lead, said, "This collaboration represents an exciting combination of revolutionary technologies that could further our ability to treat patients with HIV and other life-threatening diseases with gene therapy. Despite the advances made in the field of gene therapy, the reliance on non-targeted chemotherapy and external radiation as conditioning regimens is less than optimal and poses a problem that we hope to reduce or eliminate as part of this collaboration by replacing our conditioning regimen in this study with Actinium's ARC based targeted conditioning. Advances in HIV therapies have dramatically improved patient survival, but current therapies require life-long daily use to keep the HIV virus at bay, can have severe side effects, may be overcome by HIV resistance and do not address the needs of all patients like those in this study with HIV-related lymphomas. We envision a future where a single treatment of our stem cell gene therapy can cure patients of their lymphoma and HIV leaving the patient with a new immune system that can fight, be resistant to and prevent the mutation of HIV. Apamistamab-I-131's demonstrated antitumor effect against lymphoma and ability to condition patients in a targeted manner with a demonstrated tolerable safety profile in the bone marrow transplant setting makes it an ideal conditioning agent for this patient population. Based on these factors and extensive supporting clinical data in the Iomab-B program, we selected this ARC as the conditioning agent for the next phase of our trial as we believe antibody radiation-conjugates are more advanced and hold distinct advantages over novel but unproven conditioning technologies such as Antibody Drug Conjugates and naked antibodies that are beginning to be developed albeit at the preclinical stage."

In the current clinical trial, the anti-HIV stem cell gene therapy is produced by taking a patient's own or autologous, blood forming stem cells and genetically modifying them via gene therapy with a combination of three anti-HIV genes. The intended result is for the gene modified bone marrow stem cells to produce a new immune system and newly arising immune cells that are resistant to HIV via a single treatment. Conditioning is necessary prior to adoptive cell therapies such as gene therapy to eliminate certain cell types such as immune cells and stem cells in the bone marrow so the transplanted cells can engraft. Until now, conditioning in this trial, as is typical, used a multi-drug chemotherapy regimen administered over several days. This approach is non-targeted, associated with toxicities that impairs patients and restricts the use and efficacy of cellular therapy. Apamistamab-I-131, which requires just one therapeutic administration, will displace the non-targeted chemotherapy to condition patients in a targeted manner with the goal of reducing conditioning related toxicities and improving patient outcomes. Actinium and UC David will cross-reference their respective Investigational New Drug applications and will work collaboratively to obtain necessary regulatory and institutional approvals. In this clinical collaboration, Actinium will provide drug product, support for its administration and certain trial costs. UC Davis will be responsible for the production of the anti-HIV stem cell gene therapy and overall conduct of the study and its cost.

Dr. Dale Ludwig, Actinium's Chief Scientific Officer, said, "We are excited to be working with Dr. Abedi on this clinical study and we appreciate his recognition of the value of our Iomab-ACT targeted conditioning program may provide in support of gene stem cell therapy. This targeted approach using our CD45 ARC, enables both anti-tumor activity and effective conditioning with the potential for reduced toxicity compared to non-targeted chemotherapy and external radiation in the bone marrow transplant setting. Supported by extensive clinical investigation in 12 trials and over 300 patients, a single therapeutic dose of apamistamab-I-131 is sufficient for conditioning and, due to its dual activity, even a patient with active disease could expect to receive therapy within two weeks, which is anticipated to lead to better outcomes compared to chemotherapy, external beam radiation, or exploratory approaches such as naked antibodies or Antibody Drug Conjugates. In addition, CD45, the target of apamistamab-I-131, is ideal for targeted conditioning, as it is not expressed outside of the haemopoietic system and, because it is a poorly internalizing receptor. An ARC approach which does not require internalization of its radionuclide warhead for target cell killing, is anticipated to be more viable and more effective than Antibody Drug Conjugate approaches which need to internalize their payloads. Given the potential of this ARC targeted conditioning technology for bone marrow transplant, we are grateful to Dr. Abedi for the opportunity to advance the Iomab-ACT program into the promising field of gene stem cell therapy."

Sandesh Seth, Actinium's Chairman and Chief Executive Officer, said, "Actinium is thrilled to be working with UC Davis and honored to now be part of this important trial. It has become evident that better conditioning regimens are needed for cell and gene therapies to reach their full potential. Our team is proud to be the first company to establish a clinical stage targeted conditioning portfolio for both cell and gene therapy. We are pleased to extend our ARC technology for targeted conditioning into these rapidly advancing fields and we are committed to establishing a strong leadership position in enabling these adoptive cell therapies fully realize their great potential for improving patients' lives."

Apamistamab-I-131's demonstrated conditioning and antitumor effect in lymphoma1

Actinium's apamistamab-I-131 ARC has been studied as a targeted conditioning agent in over 300 patients in the bone marrow transplant setting in the Iomab-B Program and is currently being studied in a pivotal Phase 3 clinical (SIERRA) trial in patients with relapsed or refractory acute myeloid leukemia. Clinical proof of concept has been established with Iomab-B for targeted conditioning in high-risk, relapsed or refractory lymphoma patients prior to an autologous stem cell transplant where a favorable safety profile with no dose limiting toxicities and minimal non-hematologic toxicities observed and promising efficacy with median overall survival not reached (range: 29 months to infinity) and 31% of patients in prolonged remission at a median of 36 months follow up (range: 25 41 months)1.

1) Cassaday et al. Phase I Study of a CD45-Targeted AntibodyRadionuclide Conjugate for High-Risk Lymphoma. AACR Clin Cancer Res Published OnlineFirst September 3, 2019

About Actinium Pharmaceuticals, Inc.

Actinium Pharmaceuticals, Inc. is a clinical-stage biopharmaceutical company developing ARCs or Antibody Radiation-Conjugates, which combine the targeting ability of antibodies with the cell killing ability of radiation. Actinium's lead application for our ARCs is targeted conditioning, which is intended to selectively deplete a patient's disease or cancer cells and certain immune cells prior to a BMT or Bone Marrow Transplant, Gene Therapy or Adoptive Cell Therapy (ACT) such as CAR-T to enable engraftment of these transplanted cells with minimal toxicities. With our ARC approach, we seek to improve patient outcomes and access to these potentially curative treatments by eliminating or reducing the non-targeted chemotherapy that is used for conditioning in standard practice currently. Our lead product candidate, apamistamab-I-131 (Iomab-B) is being studied in the ongoing pivotal Phase 3 Study of Iomab-B in Elderly Relapsed or Refractory Acute Myeloid Leukemia (SIERRA) trial for BMT conditioning. The SIERRA trial is over fifty percent enrolled and promising single-agent, feasibility and safety data has been highlighted at ASH, TCT, ASCO and SOHO annual meetings. Apatmistamamb-I-131 will also be studied as a targeted conditioning agent in a Phase 1/2 anti-HIV stem cell gene therapy with UC Davis and is expected to be studied with a CAR-T therapy in 2020. In addition, we are developing a multi-disease, multi-target pipeline of clinical-stage ARCs targeting the antigens CD45 and CD33 for targeted conditioning and as a therapeutic either in combination with other therapeutic modalities or as a single agent for patients with a broad range of hematologic malignancies including acute myeloid leukemia, myelodysplastic syndrome and multiple myeloma. Ongoing combination trials include our CD33 alpha ARC, Actimab-A, in combination with the salvage chemotherapy CLAG-M and the Bcl-2 targeted therapy venetoclax. Underpinning our clinical programs is our proprietary AWE (Antibody Warhead Enabling) technology platform. This is where our intellectual property portfolio of over 100 patents, know-how, collective research and expertise in the field are being leveraged to construct and study novel ARCs and ARC combinations to bolster our pipeline for strategic purposes. Our AWE technology platform is currently being utilized in a collaborative research partnership with Astellas Pharma, Inc.

Forward-Looking Statements for Actinium Pharmaceuticals, Inc.

This press release may contain projections or other "forward-looking statements" within the meaning of the "safe-harbor" provisions of the private securities litigation reform act of 1995 regarding future events or the future financial performance of the Company which the Company undertakes no obligation to update. These statements are based on management's current expectations and are subject to risks and uncertainties that may cause actual results to differ materially from the anticipated or estimated future results, including the risks and uncertainties associated with preliminary study results varying from final results, estimates of potential markets for drugs under development, clinical trials, actions by the FDA and other governmental agencies, regulatory clearances, responses to regulatory matters, the market demand for and acceptance of Actinium's products and services, performance of clinical research organizations and other risks detailed from time to time in Actinium's filings with the Securities and Exchange Commission (the "SEC"), including without limitation its most recent annual report on form 10-K, subsequent quarterly reports on Forms 10-Q and Forms 8-K, each as amended and supplemented from time to time.

Contacts:

Investors:Hans VitzthumLifeSci Advisors, LLCHans@LifeSciAdvisors.com(617) 535-7743

Media:Alisa Steinberg, Director, IR & Corp Commsasteinberg@actiniumpharma.com(646) 237-4087

View original content to download multimedia:http://www.prnewswire.com/news-releases/actinium-pharmaceuticals-announces-iomab-act-program-gene-therapy-collaboration-with-uc-davis-in-ongoing-clinical-trial-for-patients-with-hiv-related-lymphoma-300985502.html

SOURCE Actinium Pharmaceuticals, Inc.

Read the original:
Actinium Pharmaceuticals Announces Iomab-ACT Program Gene Therapy Collaboration with UC Davis in Ongoing Clinical Trial for Patients with HIV-Related...

White blood cells circulate around the blood and help the immune system fight off infections.

Stem cells in the bone marrow are responsible for producing white blood cells. The bone marrow then stores an estimated 8090% of white blood cells.

When an infection or inflammatory condition occurs, the body releases white blood cells to help fight the infection.

In this article, learn more about white blood cells, including the types and their functions.

Health professionals have identified three main categories of white blood cell: granulocytes, lymphocytes, and monocytes. The sections below discuss these in more detail.

Granulocytes are white blood cells that have small granules containing proteins. There are three types of granulocyte cells:

These white blood cells include the following:

Monocytes are white blood cells that make up around 28% of the total white blood cell count in the body. These are present when the body fights off chronic infections.

They target and destroy cells that cause infections.

According to an article in American Family Physician, the normal range (per cubic millimeter) of white blood cells based on age are:

The normal range for a pregnant women in the 3rd trimester is 5,80013,200 per cubic millimeter.

If a person's body is producing more white blood cells than it should be, doctors call this leukocytosis.

A high white blood cell count may indicate the following medical conditions:

Surgical procedures that cause cells to die can also cause a high white blood cell count.

If a person's body is producing fewer white blood cells than it should be, doctors call this leukopenia.

Conditions that can cause leukopenia include:

Doctors may continually monitor white blood cells to determine if the body is mounting an immune response to an infection.

During a physical examination, a doctor may perform a white blood cell count (WBC) using a blood test. They may order a WBC to test for, or rule out, other conditions that may affect white blood cells.

Although a blood sample is the most common approach to testing for white blood cells, a doctor can also test other body fluids, such as cerebrospinal fluid, for the presence of white blood cells.

A doctor may order a WBC to:

The following are conditions that may impact how many white blood cells a person has in their body.

This is a condition wherein a person's body destroys stem cells in the bone marrow.

Stem cells are responsible for creating new white blood cells, red blood cells, and platelets.

This is an autoimmune condition wherein the body's immune system destroys healthy cells, including red and white blood cells.

HIV can decrease the amount of white blood cells called CD4 T cells. When a person's T cell count drops below 200, a doctor might diagnose AIDS.

Leukemia is a type of cancer that affects the blood and bone marrow. Leukemia occurs when white blood cells rapidly produce and are not able to fight infections.

This condition causes a person's body to overproduce some types of blood cells. It causes scarring in a person's bone marrow.

Whether or not a person needs to alter their white blood cell count will depend on the diagnosis.

If they have a medical condition that affects the number of white blood cells in their body, they should talk to a doctor about the goals for their white blood cell count, depending on their current treatment plan.

A person can lower their white blood cell count by taking medications such as hydroxyurea or undergoing leukapheresis, which is a procedure that uses a machine to filter the blood.

If a person's white blood cell count is low due to cancer treatments such as chemotherapy, a doctor may recommend avoiding foods that contain bacteria. This may help prevent infections.

A person can also take colony-stimulating factors. These may help prevent infection and increase the number of white blood cells in the body.

White blood cells are an important part of the body's immune system response. There are different types of white blood cell, and each has a specific function in the body.

Certain conditions can affect the number of white blood cells in the body, causing them to be too high or too low.

If necessary, a person can take medication to alter their white blood cell count.

More here:
White blood cells: Function, ranges, types, and more - Medical News Today

BOSTON Helen Obando, a shy slip of a girl, lay curled in a hospital bed in June waiting for a bag of stem cells from her bone marrow, modified by gene therapy, to start dripping into her chest.

The hope was that the treatment would cure her of sickle cell disease, an inherited blood disorder that can cause excruciating pain, organ damage and early death.

Helen, who at 16 was the youngest person ever to undergo the therapy, was sound asleep for the big moment.

It was a critical moment in medical science.

For more than a half-century, scientists have known the cause of sickle cell disease: A single mutation in a gene turns red blood cells into rigid crescent or sickle shapes instead of soft discs. These misshapen cells get stuck in veins and arteries, blocking the flow of blood that carries life-giving oxygen to the body and causing the diseases horrifying hallmark: episodes of agony that begin in babyhood.

Millions of people globally, a vast majority of them Africans, suffer from sickle cell disease. Researchers have worked for decades on improving treatment and finding a cure, but experts said the effort has been hindered by chronic underfunding, in part because most of the estimated 100,000 people in the United States who have the disease are African American, often poor or of modest means.

The disease also affects people with southern European, Middle Eastern or Asian backgrounds, or those who are Hispanic, like Helen.

This is the story of two quests for a sickle cell cure one by the Obando family and one by a determined scientist at Boston Childrens Hospital, Dr. Stuart Orkin, 73, who has labored against the disease since he was a medical resident in the 1970s.

Like many others affected by sickle cell, the Obando family faced a double whammy: not one but two children with the disease, Helen and her older sister, Haylee Obando. They lived with one hope for a cure, a dangerous and sometimes fatal bone marrow transplant usually reserved for those with a healthy sibling as a match. But then they heard about a potential breakthrough: a complex procedure to flip a genetic switch so the body produces healthy blood.

Scientists have been experimenting with gene therapy for two decades, with mixed success. And it will be years before they know if this new procedure is effective in the long term. But if it is, sickle cell disease could be the first common genetic disorder to be cured by manipulating human DNA.

Four weeks after the infusion of stem cells, Helen was strong enough to be discharged. At home, in Lawrence, Massachusetts, on a sofa with her mother by her side, she put a hand over her eyes and started to sob. She and her family wondered: Would it work? Was her suffering really over?

A Familys Nightmare

Sheila Cintron, 35, and Byron Obando, 40, met when she was in the eighth grade and he was a high school senior. They fell in love. Haylee, their first child, was born in 2001, when Cintron was 17.

When a newborn screening test showed that Haylee had the disease, her father asked, Whats sickle cell?

They soon found out.

As the family gathered for her first birthday party, Haylee started screaming inconsolably. They rushed her to the hospital. It was the first of many pain crises.

Doctors warned the parents that if they had another baby, the odds were 1 in 4 that the child would have sickle cell, too. But they decided to take the chance.

Less than two years later, Helen was born. As bad as Haylees disease was, Helens was much worse. When she was 9 months old, a severe blockage of blood flow in her pelvis destroyed bone. At age 2, her spleen, which helps fight bacterial infections, became dangerously enlarged because of blocked blood flow. Doctors surgically removed the organ.

After Helen was born, her parents decided not to have any more children. But four years later, Cintron discovered she was pregnant again.

But they were lucky. Their third child, Ryan Obando, did not inherit the sickle cell mutation.

As Ryan grew up, Helens health worsened. When he was 9, Helens doctors suggested a drastic solution: If Ryan was a match for her, he might be able to cure her by giving her some of his bone marrow, though there would also be major risks for her, including death from severe infections or serious damage to organs if his immune system attacked her body.

As it turned out, Ryan matched not Helen but Haylee.

The transplant succeeded, but her parents asked themselves how they could stand by while one daughter was cured and the sicker one continued to suffer.

There was only one way to get a sibling donor for Helen: have another baby. In 2017, the couple embarked on another grueling medical journey.

Obando had a vasectomy, so doctors had to surgically extract his sperm from his testicles. Cintron had 75 eggs removed from her ovaries and fertilized with her husbands sperm. The result was more than 30 embryos.

Not a single embryo was both free of the sickle cell gene and a match for Helen.

So the family decided to move to Mesa, Arizona, from Lawrence, where the cold, which set off pain crises, kept Helen indoors all winter. The family had already sold their house when they heard that doctors at Boston Childrens were working on sickle cell gene therapy.

Cintron approached Dr. Erica Esrick, a principal investigator for the trial. But the trial wasnt yet open to children.

Figuring Out the Science

Nothing had prepared Orkin for the suffering he witnessed in his 30s as a medical resident in the pediatric hematology ward at Boston Childrens. It was the 1970s, and the beds were filled with children who had sickle cell crying in pain.

Orkin knew there was a solution to the puzzle of sickle cell, at least in theory: Fetuses make hemoglobin the oxygen-carrying molecules in blood cells with a different gene. Blood cells filled with fetal hemoglobin do not sickle. But the fetal gene is turned off after a baby is born, and an adult hemoglobin gene takes over. If the adult gene is mutated, red cells sickle.

Researchers had to figure out how to switch hemoglobin production to the fetal form. No one knew how to do that.

Orkin needed ideas. Supported by the National Institutes of Health and Howard Hughes Medical Institute, he kept looking.

The breakthrough came in 2008. The cost of gene sequencing was plummeting, and scientists were finding millions of genetic signposts on human DNA, allowing them to home in on small genetic differences among individuals. Researchers started doing large-scale DNA scans of populations, looking for tiny but significant changes in genes. They asked: Was there a molecular switch that flipped cells from making fetal to adult hemoglobin? And if there was, could the switch be flipped back?

They found a promising lead: an unprepossessing gene called BCL11A.

In a lab experiment, researchers blocked this gene and discovered that the blood cells in petri dishes started making fetal instead of adult hemoglobin.

Next they tried blocking the gene in mice genetically engineered to have human hemoglobin and sickle cell disease. Again, it worked.

Patients came next, in the gene therapy trial at Boston Childrens that began in 2018.

The trial run by Dr. David Williams, an expert in the biology of blood-forming stem cells at Boston Childrens, and Esrick has a straightforward goal: Were going to reeducate the blood cells and make them think they are still in the fetus, Williams said.

Doctors gave adult patients a drug that loosened stem cells immature cells that can turn into red blood cells from the bone marrow, their normal home, so they floated free in the bloodstream. Then they extracted those stem cells from whole blood drawn from the patient.

The researchers used a disabled genetically engineered AIDS virus to carry information into the stem cells, flipping on the fetal hemoglobin gene and turning off the adult gene. Then they infused the treated stem cells into patients veins. From there, the treated cells migrated into the patients bone marrow, where they began making healthy blood cells.

With the success in adults, the Food and Drug Administration said Boston Childrens could move on to teenagers.

When her mother told her about the gene therapy trial, Helen was frightened. But the more she thought about it, the more she was ready to take the risk.

In the months after the gene therapy infusion at Boston Childrens, her symptoms disappeared.

Helen was scheduled for her six-month checkup Dec. 16. Helens total hemoglobin level was so high it was nearly normal a level she had never before achieved, even with blood transfusions. She had no signs of sickle cell disease.

More here:
At 16, shes a pioneer in the fight to cure sickle cell disease at Boston Childrens - Boston.com

The Cord Blood Stem Cells Market is predicted to worth +6500 Million USD with a CAGR of +30% over the forecast period 2020 to 2025.

Three sources of stem cells are bone marrow, peripheral blood, and cord blood. The blood in the umbilical cord is called cord blood and is collected at the time of delivery. Cord blood is an abundant source of Red Blood Cells (RBCs), white blood cells (WBCs), platelets and hematopoietic stem cells, and is extracted and stored in a private blood bank for the purpose of treating the disease in the future as needed.

Request for Sample Report@ https://www.reportconsultant.com/request_sample.php?id=39736

The global Cord Blood Stem Cells Market analytical report has recently published by Report Consultant to its massive repository. The research report has been summarized with informative and technical details of the dynamics of the market. It has been compiled by using some significant research methodologies such as primary and secondary research techniques. The report also elaborates on the factors which are fueling or hampering the growth of the market. It gives more focus on recent trends and technologies which are boosting the performance of the companies.

Cord Blood Stem Cells Market Key Players:

Cord Blood America Inc, Cryo-Cell International Inc, Cryo-Save AG, Cord Blood Registry Systems Inc, Viacord Inc, China Cord Blood Corporation, Cordlife Group Ltd, Vita 34 AG, Lifecell International Pvt. Ltd, Stemcyte Inc

The Cord Blood Stem Cells Market is segmented by means of storage service, application, and region.

Storage service: Public cord blood bank and Private cord blood bank

Cord blood stem cell market segmentation by application: Blood disease, Cancer, Acute leukemia, Krabbe diseases, and other diseases

Regions: North America (USA, Canada, Mexico), Europe (Germany, France, UK, Italy, Russia), Asia Pacific (China, India, Japan, South Korea, Australia, Indonesia, Malaysia), Middle East and Africa (Bahrain, Egypt, Jordan, Kuwait, Morocco, Oman, Qatar, Saudi Arabia, Syria)

Ask for discount on this report@ https://www.reportconsultant.com/ask_for_discount.php?id=39736

The report Describes the Cord Blood Stem Cells Market basics like definitions, classifications, applications and industry chain overview, industry policies and plans, product specifications, manufacturing processes, cost structures and so on. Then it analyzed the worlds main region market conditions, including the product price, profit, capacity, production, capacity utilization, supply, demand and industry growth rate, etc. In the end, the report introduced new project SWOT analysis, investment feasibility analysis, and investment return analysis.

Global research Cord Blood Stem Cells Market report highlights:

Original post:
What is Cord Blood Stem Cells Market and What Factors will drive the Industry including Leading Players Cord Blood America Inc, Cryo-Cell...

2020 Honorees include Cystic Fibrosis Foundation, Emily Whitehead Foundation, Gift of Life Marrow Registry and Ret. Major General Bernard Burn Loeffke (US Military)

Miami, FL, Jan. 09, 2020 (GLOBE NEWSWIRE) -- The formal ceremony of the 2020 Stem Cell and Regenerative Medicine Action Awards will take place at a gala reception and dinner on January 23, during the 15th annual World Stem Cell Summit (WSCS) at the Hyatt Regency in Miami. Since 2005, the nonprofit Regenerative Medicine Foundation (RMF) (formerly Genetics Policy Institute) has recognized the stem cell and regenerative medicine community's leading innovators, leaders, and champions through its annual awards reception.

Bernard Siegel, Executive Director of Regenerative Medicine Foundation and founder of the World Stem Cell Summit, said, The 2020 Action Awards will recognize three important organizations that are positively impacting the emerging field of regenerative medicine. We will also honor a retired Major General, who has capped off his military and diplomatic career by promoting the cause of world peace through medicine. All of these distinguished honorees will be recognized for their devotion to improving health and developing cures through advocacy, innovation, leadership and inspiration. In addition, the wounded warrior veterans community of South Florida will also receive special recognition at the event.

Meet the 2020 Stem Cell & Regenerative Medicine Action Award Honorees:

Innovation Award: With the motto, We will not rest until we find a cure, the Cystic Fibrosis Foundation is geared towards the successful development and delivery of treatments, therapies and a cure for every person with cystic fibrosis. CF Foundation has added decades to the lives of people with the disease as a direct result of advances in treatment and care made possible through its innovative business model- venture philanthropy. The Foundation recently unveiled its Path to a Cure research agenda aimed at addressing the root genetic cause of the disease and is currently funding industry programs aimed at gene delivery with the goal of progressing into clinical studies in 2021.

Inspiration Award: Emily Whitehead Foundation is a nonprofit organization committed to raising funds to invest in the most promising pediatric cancer research. Tom and Kari Whitehead founded EWF in honor of their daughter Emily, the first child in the world to receive CAR T-cell therapy, training her own cells to fight cancer. Her inspiring story focused public attention on thepotential for cancer immunotherapy to transform cancer treatment,as well as the need to support lifesaving cancer immunotherapy research. The foundation provides support to pediatric cancer patients and promotes awareness of the disease through education and sharing other inspiring stories.

Advocacy Award: Gift of Life Marrow Registry was established in 1991 by Jay Feinberg and his family after Jay received a life-saving bone marrow transplant. Gift of Life is dedicated to saving lives and facilitating bone marrow and blood stem cell transplants for patients with leukemia, lymphoma, sickle cell and other diseases. In 2019, Gift of Life opened the worlds first apheresis center fully integrated within a registry, the Dr. Miriam and Sheldon G. Adelson Gift of Life-Be The Match Stem Cell Collection Center. With the collection center and rapidly expanding donor database, Gift of Life will launch a biobank to advance cellular therapies using allogeneically sourced cells in 2020.

Leadership Award: Ret. Major General Bernard Burn Loeffke, PhD (US Military) is a highly decorated Special Forces officer, diplomat and medical officer.He survived two helicopter crashes and was wounded in combat. After the Vietnam War, he served as the Army Attach at theU.S. Embassy in Moscow, first Defense Attach at the U.S Embassy in Beijing, a staff officer in theWhite House, and Director of the Commission onWhite House Fellows. His last command was Commanding General of Army South. After 35 years in the military, he became a medical officer traveling the world on relief missions to third and fourth world countries. Presently, at age 85, he champions the hydrocephalus and wounded warrior communities. He continues to serve as an inspiration and supporter of building peaceful international relations through medical partnerships and played a pivotal role as a keynote speaker at the inaugural 2019 World Stem Cell Summit CHINA.He is called the Peace General in Latin America. In China, he is simply known as The General, our Friend.

Story continues

To learn more about past honorees and details for sponsoring or attending the upcoming 2020 Stem Cell and Regenerative Medicine Action Awards dinner, please visit, https://www.worldstemcellsummit.com/stem-cell-action-awards/

About the World Stem Cell Summit (WSCS)

Produced by the non-profit Regenerative Medicine Foundation (RMF), and in its 15th year, the World Stem Cell Summit will take place January 21-24, 2020, in Miami, Florida in partnership with Phacilitate Leaders World, as part of Advanced Therapies Week. The Summit is the most inclusive and expansive interdisciplinary, networking, and partnering meeting in the stem cell science and regenerative medicine field. With the overarching purpose of fostering translation of biomedical research, funding, and investments targeting cures, the Summit and co-located conferences serve a diverse ecosystem of stakeholders. For more information about the upcoming World Stem Cell Summit in Miami, please visit: http://www.worldstemcellsummit.com.

About the Regenerative Medicine Foundation (RMF)

The nonprofit Regenerative Medicine Foundation fosters strategic collaborations to accelerate the development of regenerative medicine to improve health and deliver cures. RMF unites the worlds leading researchers, medical centers, universities, labs, businesses, funders, policymakers, experts in law, regulation and ethics, medical philanthropies, and patient organizations. We maintain a trusted network of leaders and pursue our mission by producing our flagship World Stem Cell Summit series of conferences and public days, honoring leaders through the Stem Cell and Regenerative Medicine Action Awards, supporting our official journal partner STEM CELLS Translational Medicine (SCTM), promoting solution-focused policy initiatives both nationally and internationally and creating STEM/STEAM educational projects. For more information about RMF, please visit: http://www.regmedfoundation.org.

Attachments

Joseph DawsonRegenerative Medicine Foundation561-906-4755joseph@regmedfoundation.org

See original here:
Stem Cell and Regenerative Medicine Action Awards to be Presented at World Stem Cell Summit on January 23 at the Hyatt Regency Miami - Yahoo Finance

What are the most common types of brain tumors in children, and what treatment options are available?

Brain tumors are the most common solid tumors affecting children, with approximately 4,500 new cases each year in the U.S.

As brain tumors expand or block the normal pathways in the brain, the pressures inside the skull expand. As a result, symptoms of brain tumors can include headaches, seizures, lethargy, nausea and vomiting. A child experiencing progressively worsening symptoms like these should be evaluated by a pediatrician or in the emergency room. The doctors evaluation may include a scan of the brain. If the scan shows a tumor, the next step is a consultation with a neurosurgeon.

The majority of pediatric brain tumors occur in the posterior fossa (located near the bottom of the skull and the brain stem). The most common tumors include medulloblastoma, pilocytic astrocytoma, and ependymoma. Other less common tumors can occur in the cerebral hemispheres (the two main portions of the brain) and include astrocytomas, gangliogliomas, craniopharyngiomas, and germ cell tumors.

Surgery is usually the first step in treatment when a brain tumor is discovered. The goals of surgery are to determine whether the tumor is cancerous and remove all or as much of the tumor as safely as possible. At UVa Childrens Hospital, the latest technologies are utilized to help perform surgery, including intraoperative MRI, navigation, ultrasound and minimally invasive endoscopic surgery. Based on the types of cells found in the brain tumor, additional treatments may be needed. These therapies may include chemotherapy, radiation therapy, proton therapy, stem cell rescue and bone marrow transplantation and/or supportive care for rehabilitation.

More recent treatment options have focused on precision medicine and targeted drug therapy. Targeted drug treatments can cause brain tumor cells to die by blocking abnormalities present within these cells. These drugs are changing how brain tumors are treated while improving outcomes. Current research is focused on understanding the molecular basis of tumor formation and discovery of new targets for treatment.

At UVa, we are committed to providing the best neurosurgical care for children through our multidisciplinary brain tumor team, consisting of neurosurgery, neurology, pediatric oncology and radiation oncology.

For more information, visit childrens.uvahealth.com/services/pediatric-neurosurgery.

Dr. Hasan R. Syed and Dr. John Jane Jr. are pediatric neurosurgeons at UVa Childrens Hospital.

See the original post:
Ask the Expert: What are the most common types of brain tumors in children? - The Daily Progress

Roshen Confectionery Corporation will allocate UAH 50 million for the overhaul of the oncohematology department and the creation of an autologous bone marrow transplantation department at the National Cancer Institute.

According to the company's press release, the project will last almost two years.

"In the building where the oncohematology and chemotherapy department is located, the roof has been leaking for many years, water leaked from the sewer under the foundation as a result, almost all the walls of the building have a fungus that is simply deadly for people with this disease. In early autumn, Roshen began the overhaul of part of the premises of the second building of the National Cancer Institute. We plan to complete the work in August 2020," Iryna Ponomarenko, the director for social projects development at Roshen Confectionery Corporation, said.

In 2018, the corporation repaired and equipped a room intended for apheresis (collection) of stem cells (for bone marrow transplantation) and donor platelets for a total of UAH 2.9 million.

In total, in 2017-2018 Roshen invested UAH 357 million in social projects.

View post:
Roshen will issue UAH 50 mln for development of National Cancer Institute - Interfax Ukraine

Jasper Therapeutics, Inc., a Palo Alto, Calif.-based biotechnology company focused on hematopoietic cell transplant therapies, expanded its Series A financing with an additional investment of $14.1m.

The round was led by Roche Venture Fund with participation from other investors. This brought the total company financing to more than $50m to date.

The initial Series A round was led by Abingworth LLP and Qiming Venture Partners USA, with further investment from Surveyor Capital (a Citadel company) and participation from Alexandria Venture Investments, LLC.

The company plans to use the proceeds to advance and expand the study of its lead clinical asset, JSP191.

Jasper Therapeutics is a biotechnology company focused on hematopoietic cell transplant therapies. The companys lead compound, JSP191, is in clinical development as a conditioning antibody that clears hematopoietic stem cells from bone marrow in patients undergoing a hematopoietic cell transplant. This conditioning antibody is designed to enable safer and more effective curative hematopoietic cell transplants and gene therapies.

FinSMEs

09/01/2020

More:
Jasper Therapeutics Raises Additional $14.1M in Series A Financing - FinSMEs

13 January 2020

Promising results from clinical trials give hope for using CRISPR/Cas9 genome editing to treat various heritable diseases and cancer in humans.

It has been seven years since the discovery that the CRISPR/Cas9 defence system, used by microbes to destroy viruses, could be re-engineered to edit the human genome. Since then researchers have carried out an array of experiments to explore potential applications.

Biophysist Dr He Jiankui sparked global controversy concerning the ethics of genome editing when he used CRISPR to genetically modify embryos, resulting in the birth of the first genome-edited babies (see BioNews 977).

Yet researchers worldwide have at the same time been investigating the use of CRISPR for non-heritable changes, modifying the genes in non-embryonic cells to treat a wide range of diseases.

'There's been a lot of appropriate caution in applying this to treating people, but I think we're starting to see some of the results of that work,' said Dr Edward Stadtmauer, a haematologist at the University of Pennsylvania, Philadelphia.

Over a dozen new clinical trials testing CRISPRtherapy on diseases such as cancer, HIV and sickle cell anaemia were listed on the clinicaltrials.gov database last year. One trial in its early stages used CRISPR to treat sickle cell anaemia and beta-thalassaemia, both genetic blood disorders that result in the production of an abnormal form of the oxygen-carrying protein, haemoglobin.

Two patients with these disorders were treated by CRISPR Therapeutics in Cambridge, Massachusetts, and Vertex Pharmaceuticals in Boston, Massachusetts, using CRISPR to inactivate a gene that switches off the production of an alternative form of haemoglobin. Preliminary results of the study suggest that this therapy improved some of the symptoms but the participants will need to be followed for a longer period to be sure.

Results from two other trials, one in which genome-edited blood cells were transplanted into a man to treat HIV infection, and the other in which they were transplanted into three people to treat some forms of cancer, were less successful. In both cases, the transplanted cells flourished in the bone marrow of recipients, without any serious safety concerns, but did not produce a clear medical benefit. The study has been placed on hold while researchers explore ways to boost that percentage, says Hongkui Deng, a stem-cell researcher at Peking University, Beijing, China and a lead author of the work.

Other researchers are trying to move beyond editing cells in vitro. In July 2019 a clinical trial was launched to treat Leber congenital amaurosis 10 (LCA10), a rare genetic disease that causes blindness. The trial, launched by two pharmaceutical companies, Editas Medicine in Cambridge, Massachusetts, and Allergan in Dublin, Ireland, will be the first trial that uses CRISPR to edit cells inside of the body. The researchers are testing AGN-151587 (EDIT-101), which is a novel CRISPR treatment delivered via adeno-associated virus (AAV) directly to the eye's light-sensing photoreceptor cells to remove the mutation that causes LCA10.

See the original post here:
The potential use of CRISPR to treat disease is gaining momentum - BioNews

Last Updated on January 10, 2020

Medically reviewed by Ann S. LaCasce, MD, MMSc

Mantle cell lymphoma is a rare, often aggressive form of non-Hodgkin lymphoma (NHL), a cancer that involves white blood cells known as lymphocytes, which help protect the body from disease. It is named for its origins in the mantle zone a ring of cells within the lymph nodes where B cells (a type of lymphocyte) grow and take on specialized functions. It comprises about 6% of all cases of NHL, usually arises during an individuals early 60s, and is more common in men than women.

The most common symptoms of mantle cell lymphoma include:

At the time of diagnosis,nearly all patients have disease that has spread beyond its initial site.

For most patients, the cause of the disease is unknown, but rates are higher among farmers and people from rural areas.

Itoccurs when B lymphocytes acquire genetic mutations that alter their functionand growth. One such abnormality, found in 90% of cases, causes B lymphocytesto overproduce cyclin D1, a protein that spurs the cells growth. Othermutations can interfere with B cells ability to produce infection-fightingantibodies, leaving patients vulnerable to certain diseases.

A definitive diagnosis requires a biopsy of an affected lymph node or other involved tissue.

Doctors use a variety of scans to determine the diseases stage, or how far it has advanced. These include:

Treatment for mantle cell lymphoma varies depending on patients age and overall health and the stage of the disease. Patients who have yet to develop symptoms and who have a relatively small amount of slow-growing disease may be recommended for active surveillance close monitoring of their health through regular checkups and lab tests. When lymphoma-related symptoms appear or tests show a worsening of the disease, active treatment may begin.

The initial treatment for aggressive mantle cell lymphoma in younger patients often includes a combination of chemotherapy drugs in conjunction with an antibody-based treatment, often followed by a stem cell transplant using patients own stem cells. Older, less-fit patients may undergo less intensive chemotherapy sometimes followed by a prolonged course of antibody therapy.

Other treatments may include drugs known as BTK inhibitors such as acalbrutinib and ibrutinib, which interfere with lymphoma cells internal growth signals.

In patients who relapse after treatment or dont respond to initial treatment, a variety of options may be available, including:

Clinical trials are currently underway of CAR T-cell therapy for patients with mantle cell lymphoma. The therapy, which uses genetically modified immune system T cells to attack tumor cells, has been shown to be effective in patients with other forms of non-Hodgkin lymphoma. Other trials are testing drugs known as bispecific antibodies, artificial proteins that can bind simultaneously to two surface proteins on cells, and targeted agents directed against specific cancer-related proteins.

Go here to see the original:
What is Mantle Cell Lymphoma and How Is It Treated? - Dana-Farber Cancer Institute

Imago BioSciences, Inc., a clinical-stage biotechnology company developing innovative treatments for myeloid diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for the development of bomedemstat (IMG-7289) for the treatment of essential thrombocythemia (ET), a bone marrow disease associated with high platelet counts and potentially catastrophic vascular complications. Bomedemstat inhibits the enzyme LSD1 (lysine-specific demethylase 1), thus preventing excess platelet and neutrophil production.

"The Fast Track designation by the FDA recognizes the need for novel therapeutics for myeloid diseases and mirrors our own urgency in addressing these devastating conditions," said Hugh Young Rienhoff, Jr. M.D., CEO, Imago Biosciences. "ET is a quiet bone marrow cancer than can linger for years. In a subset of patients, the excess of platelets leads to bleeding and clotting including strokes and infractions, each having a significant impact on these patients. With only one FDA approved therapy, one that does not increase overall survival, patients are in desperate need of new options. Based on its mechanism and safety data obtained to date, we believe bomedemstat has the promise to be that new treatment."

The FDA grants Fast Track designation to facilitate development and expedite the review of therapies with the potential to treat a serious condition where there is an unmet medical need. A therapeutic that receives Fast Track designation can benefit from early and frequent communication with the agency, in addition to a rolling submission of the marketing application, with the objective of getting important new therapies to patients more quickly.

About Bomedemstat (IMG-7289)

Bomedemstat is a small molecule discovered by Imago BioSciences that inhibits lysine-specific demethylase 1 (LSD1 or KDM1A), an enzyme essential for production and normal function of megakaryocytes and for self-renewal of malignant hematopoietic stem or progenitor cells. Megakaryocytes are the primary producer of platelets and cytokines that drive essential thrombocythemia pathogenesis.

In non-clinical studies, bomedemstat demonstrated robust in vivo efficacy as a single agent, and in combination with other therapeutics across a range of myeloid malignancy models including the myeloproliferative neoplasms encompassing myelofibrosis, essential thrombocythemia and polycythemia vera.

The FDA has also granted Fast Track designation to bomedemstat for the treatment of myelofibrosis, which is currently being studied in an international Phase 2b study. In this study IMG-7289 was effective in reducing spleen volumes and substantially improved symptom scores in a majority of evaluable patients. For more information visit http://www.clinicaltrials.gov (NCT03136185). Additional clinical studies in hematologic disorders will begin in 2020.

About Imago BioSciences

Imago BioSciences is a clinical-stage, venture-backed pharmaceutical company whose investors include a fund managed by Blackstone Life Sciences, Frazier Healthcare Partners, Omega Funds, Amgen Ventures, MRL Ventures Fund, HighLight Capital, Pharmaron, Greenspring Associates and Xeraya Capital, as well as other corporate and venture investors.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200113005164/en/

Contacts

Ian StoneCanale Communicationsian@canalecomm.com (619) 849-5388

Read the original post:
Imago Receives Fast Track Designation from U.S. FDA for Bomedemstat for Treatment of Essential Thrombocythemia - Yahoo Finance

This week, the American Cancer Society released some very welcome news: the cancer death rate in the U.S. dropped by 2.2% from 2016 to 2017, the largest single-year drop ever recorded.

The drop, which the report attributes to plummeting smoking rates as well as new screening and treatment methods, continues a decades-long trend, as cancer death rates have fallen by nearly 30% since 1991 about 2.9 million fewer deaths.

Dr. Thomas Loughran, director of the University of Virginia Cancer Center, said UVA is in step with this national trend.

The UVA Cancer Center is one of 71 National Cancer Institute-designated treatment centers nationwide and ranked among the nations top 50 cancer centers over each of the past four years (No. 26 last year). The center serves approximately 4 million people in Virginia and West Virginia.

We spoke with Loughran about what he is seeing at UVA and beyond, new treatments and research helping to eradicate cancer, and where he sees cancer treatment in five years.

Q. Why have cancer death rates dropped so significantly?

A. As reports of this latest drop have said, a large part of the decline can be attributed to declining rates of lung cancer. The importance of preventing cancer particularly behavioral interventions like stopping smoking has become more prominent, and there have been remarkable declines in smoking across the United States.

This is a very important focus for us at UVA. We serve a large geographical area 90 contiguous counties in Virginia and West Virginia, including rural Appalachia. Southwest Virginia in Appalachia still has high smoking rates, and as a result, high rates of lung cancer. Education, screening and tobacco cessation programs are critically important, especially in those areas.

Q. What advances in treatment have contributed to falling cancer death rates, nationally and at UVA?

A. Screening technology, especially for the more common cancers like lung, colorectal, prostate and breast cancer, has improved. The latest report probably doesnt fully reflect recent implementation of lung cancer screening using a low-dose CT scan, recommended for high risk individuals and especially those with a history of heavy smoking. That has only been around a few years, and its impact will likely show up in future reports.

The second big factor is the development of immunotherapy [cancer treatments that utilize and help the patients immune system]. UVA has invested quite a lot of institutional resources in becoming a state-of-the-art immunotherapy center, and I am proud to say we are a leader in the field.

We have created a Cancer Therapeutics Program to support the development of new therapies. Dr. Craig Slingluff, who leads that program, is a surgical oncologist internationally famous for immunotherapy treatments for melanoma. To strengthen this program, we have recruited a cadre of leading physician scientists from across the country. Dr. Karen Ballen came here to lead our stem cell and bone marrow transplant program. Dr. Lawrence Lum, the scientific director of the transplant program, has developed a novel therapy using antibodies that bind to both T-cells [patient cells that can kill cancer cells] and tumor cells, forming a bridge between the two that helps the T-cells kill the cancer cells. Dr. Trey Lee is a leader in CAR-T cell therapy.

I could keep going; there are so many great people working on this. We also have a new Good Manufacturing Practice lab, supported by a grant from the commonwealth, that will help us grow and modify T-cells as needed and give them to patients under sterile conditions. That just opened and we are very excited about that program.

Q. What other areas of research have shown great promise?

A. Some of our work in nanotechnology is really unique and exciting. [Biomedical engineering professor] Mark Kester directs UVAs nanoSTAR Institute, which is working on delivering cancer therapies by nanotechnology basically, engineering at a very small scale. For example, nanoliposomes a sort of delivery system for cancer therapy are actually smaller than individual cells and can therefore penetrate cancer cells and release treatment from inside those cells.

We are very excited about early phase trials testing this technology on solid tumors, and we also hope to use it to treat patients with acute leukemia over the next few years.

Q. Looking ahead, where do you see the next big gains coming from?

A. Immunotherapy has revolutionized cancer treatment, but why some patients respond well and some dont remains puzzling. I hope that we can begin to discover why some patients are reacting to these newer treatments differently than others. Once we figure out why some patients respond to immunotherapy, we can begin to make improvements that could benefit a larger percentage of patients with these deadly cancers.

CAR T Cell therapy one method of immunotherapy is very effective against leukemia, lymphoma and cancers of the blood, but not yet against solid tumors. Over the next five years, I hope we can determine how to deliver these T-cells to solid tumors such as those found in lung, colorectal and other common cancers again to make this advance more widely applicable to a larger number of patients.

The rest is here:
Q&A: Cancer Death Rates Are Falling Nationally. Here's What's Happening at UVA - University of Virginia

SAN FRANCISCO, Jan. 12, 2020 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), a leading medical genetics company, announced preliminary unaudited full-year 2019 results, driving strong growth in volume and revenues, signaling continued momentum going into 2020. The company accessioned more than 482,000 samples and generated approximately $216 million in revenue in 2019. The company also announced 2020 guidance of more than 725,000 samples accessioned and more than $330 million in revenue, reflecting a more than 50% annual growth in both volume and revenue. Invitae has now provided in-depth medical genetic sequencing for more than one million patients since launch, including more than 750,000 in the past two years.

"Invitae is proving that genetics is a growth story today and for the future, demonstrated by our nearly 60 percent volume growth, more than 45 percent revenue growth and yet another year of executional excellence. As we look to 2020, with new account growth continuing to soar and strong re-order rates, we are confident in our ability to drive growth and, most importantly, increase the number of patients we can help," said Sean George, co-founder and chief executive officer of Invitae. "Before Invitae began, medical genetics was considered a niche diagnostic offering, available at high prices to the sickest few. We envisioned a world where all patients would have access to in-depth genetic information to inform their healthcare. We are making that vision a reality, having now provided answers to more than one million patients."

Preliminary, unaudited financial results for 2019 and guidance for 2020

Looking ahead to 2020, Invitae anticipates test volume of more than 725,000 samples accessioned generating more than $330 million in revenue for the year, reflecting a more than 50% annual growth rate in both volume and revenue.

Invitae has not completed preparation of its financial statements for the fourth quarter or full year 2019. The preliminary, unaudited results presented in this news release for the quarter and year ended December 31, 2019 are based on current expectations and are subject to adjustment. Actual results may differ.

Invitae will report its full financial results and other metrics during its fourth quarter and year-end 2019 conference call in February.

2019 corporate and scientific highlights

Invitae's network of biopharma partnerships continued to grow throughout the year and now includes more than 80 agreements with more than 45 companies:

Invitae enhanced its technologies and services and advanced medical research to deepen understanding of the use of genetics in clinical care:

Invitae expanded access to its high-quality, in-depth medical genetic testing via insurers and health systems in the United States and internationally:

Webcast informationThe company will present at the 38th Annual J.P. Morgan Healthcare Conference on Wednesday, January 15, 2020 at 7:30 a.m. Pacific followed by a breakout session at 8:00 a.m. Pacific at the Westin St. Francis Hotel in San Francisco. The live webcast of both the presentation and the breakout session may be accessed by visiting the investors section of the company's website at ir.invitae.com. A replay of the webcasts will be available shortly after the conclusion of the presentation and will be archived on the company's website.

About InvitaeInvitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

Safe Harbor StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including the company's preliminary financial results for 2019, including volume, revenue, cash, cash equivalents and restricted cash and cash burn; the company's guidance for 2020, including volume and revenue levels; the company's expectations for 2020 regarding its ability to deliver on its goal to accelerate growth and to increase the number of patients served; the company's beliefs regarding the benefits of its acquisitions; and the company's beliefs regarding the momentum in its business and the drivers of such momentum; the company's announcement regarding new Detect partners; and the company's plans to increase its international presence. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: actual results for the fourth quarter and full year 2019, the year-end close process and audit of the company's financial statements, the company's ability to build on momentum in its business and the drivers of momentum, the company's history of losses; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to compete; the company's ability to develop and commercialize new tests and expand into new markets; risks associated with the company's ability to use rapidly changing genetic data to interpret test results accurately, consistently, and quickly; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the company's ability to successfully integrate acquired businesses, and the benefits to the company of any such acquisitions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

INVITAE CORPORATION

Reconciliation of Net Increase in Cash, Cash Equivalents and Restricted Cash to Cash Burn

(in millions)(preliminary, and unaudited)

Year Ended

December 31, 2019

Net increase in cash, cash equivalents and restricted cash

$

39.4

Adjustments:

Purchases of investments

260.9

Maturities of investments

(34.5)

Proceeds from public offering of common stock, net of issuance costs

(204.0)

Proceeds from issuance of convertible senior notes, net

(339.9)

Proceeds from exercises of warrants

(0.2)

Cash burn

$

(278.3)

1

1 Cash burn for the year ended December 31, 2019 includes $85.6 million of cash paid to settle our obligations under the 2018 Note Purchase Agreement (which includes $1.3 million of accrued interest on the third quarter 2019 quarterly interest payment) and $41 million paid in connection with acquisitions during 2019.

Contact:Laura D'Angeloir@invitae.com(628) 213-3369

1 Miller, Nicole, et al, "Behind the Seizure: A No-Cost 125-gene Epilepsy Panel for Pediatric Seizure Onset Between 24 Years". Presented at the American Society of Human Genetics Meeting: October 1620, 2018, San Diego, CA.

View original content to download multimedia:http://www.prnewswire.com/news-releases/invitae-preliminary-2019-financial-results-demonstrate-strong-momentum-with-nearly-60-growth-in-test-volume-and-more-than-45-growth-in-revenue-year-over-year-300985357.html

SOURCE Invitae Corporation

Company Codes: NYSE:NVTA

Excerpt from:
Invitae preliminary 2019 financial results demonstrate strong momentum with nearly 60% growth in test volume and more than 45% growth in revenue...

Generate serves families from preconception to post-birth throughout the significant and highly personalized journey of building a family and protecting their children's health. Built upon the pillars of innovation, access, and connection, Generate has already helped grow and protect nearly 1 million families around the world.

Our legacy brands CBR, California Cryobank, and Donor Egg Bank USA are pioneering leaders in their respective fields and continue to set industry standards for innovation, scientific excellence, and customer focus. Generate is furthering the impact of this life sciences platform with the addition of advanced pediatric genetic testing, US distribution of reproductive medical devices and proprietary healthcare technology through the respective brands ReadyGen (pediatric genetic screening powered by Sema4), Kitazato USA (medical device distribution), and Donor Application (proprietary software for reproductive clinics).

"Our brands are leaders in each of their categories; as a life sciences platform, we are uniquely positioned to give clients access to the full range of expertise and services needed to create and support healthy families," said Richard Jennings, Chief Executive Officer. "Generate helps its clients realize their dreams of having a baby and provides access to scientific innovations in stem cells and genetic services that improve the lives of families around the world."

With the substantial growth in single parenting by choice and LGBTQ+ family building, as well as a trend towards having children later in life, Generate's reproductive health services have never been in higher demand. Similarly, advances in stem cell therapies and research into regenerative medicine have emphasized the importance and increased the awareness and interest in storing newborn stem cells with CBR.

"Generate Life Sciences is positioned to play an increasingly important role in protecting families as regenerative medicine and new genetic testing platforms open the door to the future of personalized medical treatments," said Jaime Shamonki, MD, Chief Medical Officer. "Uniting key elements of the family-building experience under Generate will give our clients peace of mind, convenient access, and exceptional support throughout this significant time in their lives. This organization has collectively helped create nearly 100,000 families and provides access to invaluable long-term health benefits to almost a million more. For us, Generate represents more than just good business; it is advancing scientific innovations that help the future of humanity."

"The journey to parenthood has evolved over the years, but the end goal is the same people want to have children and they want to keep them safe and healthy. In the modern age, we have advanced the science and technology available to help individuals grow their families and be more proactive in planning for their future health," said Michael J. Levy, MD, IVF Director and Co-Founder, Shady Grove Fertility. "That is where Generate Life Sciences becomes a trusted partner for clients from pre-conception through post-birth. From donor egg and donor sperm to newborn stem cell services and genetic testing, Generate is there every step of the way. And the possibilities are endless."

"Generate Life Sciences made our dream of becoming parents a reality. From helping us choose our amazing California Cryobank sperm donor for our twin girls, to rushing a CBR cord blood collection kit for our son when my wife went into early labor, they have always gone above and beyond to help. We look to Generate as a trustworthy partner we can rely on for these very personal and private moments in our lives," said Sharon Kochlany & Vanessa Colimorio, customers of Generate.

Generate Life Sciences BrandsGenerate Life Sciences is a company of established, trustworthy brands founded and grown over 40 years by experts in reproductive medicine, newborn stem cell services, and genetics. Those brands include:

Newborn Stem Cell Services CBR (Cord Blood Registry): CBR has stored newborn stem cells (stem cells collected from cord blood and cord tissue) for almost 30 years.

Reproductive ServicesCalifornia Cryobank Donor Sperm Bank:California Cryobank is a pioneer and industry leader in donor sperm banking, offering the most rigorously screened donors, largest selection, and scientific expertise for more than 40 years.

Donor Egg Bank USA:Donor Egg Bank is a true leader in its category, maintaining the highest clinical pregnancy rate in the industry, while growing the largest frozen donor egg program in the United States.

NW Cryobank:For over 30 years, NW Cryobank has been helping couples, single women, and the LGBTQ+ community create happy, healthy families.

Genetic Services ReadyGen:Powered by Sema4, ReadyGen is an innovative and advanced pediatric screening test that empowers parents to further protect their children by delivering clinically actionable and personalized health insights.

Medical Devices and Healthcare TechnologyKitazato USA:Kitazato USA by California Cryobank is the exclusive distributor of Kitazato products in the US, offering devices for human assisted reproductive medicine from the innovator of the Cryotop Method vitrification technique.

Donor Application: Proprietary software providingdonor screening and recipient matching services on a HIPAA compliant platform.

About Generate Life SciencesGenerate Life Sciences (Generate)is a life sciences company helping to grow and protect families through reproductive, newborn stem cell, genetic screening, medical device, and healthcare technology services. We serve families from preconception to post-birth. Our brands - CBR (Cord Blood Registry), California Cryobank Donor Sperm Bank, Donor Egg Bank USA, NW Cryobank, ReadyGen, Kitazato USA, and Donor Application are pioneering leaders, helping to grow and protect nearly 1 million families. Headquartered in Los Angeles, Generate operates facilities in Tucson, New York, Boston, Palo Alto, and Rockville, MD. Generate is a portfolio company of GI Partners, a private investment firm based in San Francisco.

Media ContactsMonica Rohledermedia@generatelifesciences.com847-606-1973

SOURCE Generate Life Sciences

homepage

See the original post:
Introducing Generate Life Sciences - A First-Of-Its-Kind Company Focused On Helping Grow And Protect Healthy Families - PRNewswire

When Katy Mathes and six of her family members learned they had a mutation on a BRCA gene that significantly raised their risk of breast cancer they underwent major surgery. But years later, the genetic testing company lowered the family's odds of getting the disease, Amy Dockser Marcus reports for the Wall Street Journal.

In August 2015, Mathes decided to get a BRCA test. Mathes' mother had been diagnosed with breast cancer at 49, and four of her aunts had tested positive for the BRCA gene, and "moved quickly to get surgery," Dockser Marcus reports.

Mathes and her sister, Tricia Leigh, also had positive tests. The test results showed that Mathes had up to an 84% risk of developing breast cancer by age 70 and up to a 27% risk of developing ovarian cancer by age 70. Among the general population, the odds of developing breast or ovarian cancer are 7.3% and 0.7%, respectively, Dockser Marcus reports.

But the two women grappled over the decision of whether to get surgery: Mathes wanted another child and her sister was breastfeeding her second child.

After consulting with additional doctors, Mathes eventually decided to have her ovaries and fallopian tubes removed, the same procedure her aunts, sister, and mother underwent. In addition, Mathes and her sister had double mastectomies.

"I treated my test results like the Bible," Mathes said. "There was no questioning the report."

But years after the initial test, Myriad Genetics, the molecular diagnostics company that did Mathes' test as well as her relatives', changed its classification of the BRCA variant Mathes has from "pathogenic" to "unknown significance," a move that Myriad said is very unusual.

By this point, Mathes and six of her family members had undergone surgery based on their test results. When the sisters learned the news, Mathes said, "My brain just shut off."

Susan Manley, SVP of medical services at Myriad and a board-certified genetic counselor, said, "We know these are very difficult situations. We make these reclassifications very carefully. The science is evolving." She added that changing a classification from harmful to uncertain "is a rare event, but I understand that rare is of no consolation to the patient when it happens to them."

BRCA tests are among the most common genetic tests in existence, Dockser Marcus writes, and genetic testing guidelines have expanded who should receive BRCA tests. Major genetic testing companies such as 23andMe, Ancestry, and MyHeritage now offer the tests for BRCA1 and BRCA2 genes.

However, not every lab agrees on the specific classification of a BRCA gene variant, Dockser Marcus reports. That's in part because there are "tens of thousands of BRCA variants" and not all of them necessarily carry the same level of risk for a patient, Dockser Marcus reports.

Fergus Couch, a professor at the Mayo Clinic, said some variants "have intermediate or moderate levels of risk, not full-blown risk." For a number of those variants, labs "are making a judgment call but that is not always clear to the public," Couch said.

Stephen Chanock, a geneticist at the National Cancer Institute, said, "[G]enetics is murky." He added, "It's not so simple as 'Doctor, do I have to worry or don't I have to worry?'"

According to Melissa Cline, a researcher at the University of California Santa Cruz Genomics Institute, and project manager of the BRCA Exchange, the analysis on the BRCA variant in the Mathes' family put a lot of weight on a 2011 paper that found the variant likely alters the BRCA2 protein, which can help suppress tumors.

Seth Marcus, a genetic counselor at Advocate Health Care who counseled Mathes' mother and one of her aunts, said he checked a public database to see how other labs classify the variant once he heard of Myriad's change. He said six labs still classify the variant as "likely pathogenic."

"In the end, you give the patient the data and the knowledge you know," he said.

Dockser Marcus reports that Myriad currently has 38 people in its database with the BRCA variant Mathes and her relatives have, 12 of whom come from Mathes' family. Mathes said that if she had known about the sample size, she and her husband may have asked more questions about whether surgery was appropriate.

Now, based on Mathes' family history and Myriad's classification change, Mathes' genetic counselor estimated her lifetime risk of developing breast cancer is 21%, Dockser Marcus writes.

"That is not high enough to make me remove organs," Mathes said. "I would have had another kid. I would have waited to do surgery" (Dockser Marcus, Wall Street Journal, 12/20/19).

Originally posted here:
'I would have had another kid': How an imperfect gene test led to major surgeryand big regrets - The Daily Briefing

Cystic fibrosis carriers individuals who have certain genetic mutations in one of the copies of the CFTR gene have a significantly increased risk compared with healthy people for several CF-related conditions, a new study shows.

The study, Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions, was published in the journal Proceedings of the National Academy of Sciences.

Because CF is a recessive genetic disorder, both copies of a persons CFTRgene one inherited from the mother and the other from the father must be mutated to develop the full-blown disease. People with CF develop recurrent pulmonary infections and also hormonal, gastrointestinal, pancreatic, liver, and reproductive problems.

People with one mutated copy of the CFTRgene are called CF carriers. It was believed that these individuals, having only 1 defective CFTR gene, are not considered to be at increased risk for CF-related conditions, the researchers said.

In fact, CF carriers are routinely informed that they are not at increased health risk, they said.

However, some studies have found a higher-than-expected proportion of CF carriers with a limited number of CF-related conditions, the team noted. These conditions include pancreatitis, male infertility, airway infections, and gastrointestinal problems.

The researchers noted that the majority of these studies were performed on a small scale and lack appropriated controls. Thus, there was an unmet need to confirm and expand on previous studies suggesting that CF carriers are at greater risk for CF-related conditions.

That led the team, from the University of Iowa (UI), to investigate the risk of carrier status in developing CF-related conditions. The scientists analyzed data from the IBM Watson/Truven Health Analytics MarketScan Database, a large database of health information.

The team identified 19,802 CF carriers, and matched each carrier with five people without CF (controls), totaling 99,010 people. For the CF group, they included 23,557 patients with the disease, who were matched to a non-CF group of 117,762 healthy people (controls).

All participants were analyzed for 59 CF-related conditions, including those affecting the bone, like osteoporosis and scoliosis, those impacting the endocrine system, including diabetes, those having an effect on the gastrointestinal system, and those affecting organs like the liver, pancreas, kidneys, and lungs.

The results showed that CF carriers were at higher risk for all 59 conditions analyzed, with a significant risk found for 57 of them.

Carriers had a significantly greater risk of conditions previously linked to the CF carrier status, like male infertility or pancreatitis. However, they also were found to be at significantly increased risk for conditions not previously linked to the carrier state, such as constipation or diabetes, among others.

Moreover, the team found that the more prevalent a condition is in CF patients, the more widespread it also is in CF carriers.

To exclude any potential bias, the researchers included a CF carrier validation cohort a group composed of 2,185 mothers of CF patients (meaning the mothers must be CF carriers).

Health records of these women, from before their children were diagnosed, mirrored the previous findings. Specifically, among the 42 conditions detected in the adult women, 40 of them had higher prevalence among CF carriers. For 28 of these conditions, the link was statistically significant.

Taken together, our results call into question the idea that CFTR expression levels associated with the CF carrier state are sufficient to completely protect subjects from CF-related conditions, the researchers said.

Notably, while the investigators said their findings show the risk of certain CF-related conditions is higher for carriers compared with healthy controls (relative risk), the actual chance (absolute risk) of developing these conditions is still very low.

CF carriers are nowhere near as at-risk as patients with CF, Philip Polgreen, MD, UI professor of internal medicine and epidemiology, and the studys lead author, said in a press release. But compared to people with no CF mutations, they have a slightly higher risk for some diseases.

For conditions such as chronic pancreatitis, the relative risk is very high for carriers, but the absolute risk of pancreatitis is low, even for CF carriers in our sample, the researchers said.

Nonetheless, these findings carry implications for how CF carriers including more than an estimated 10 million Americans live their lives. For example, being a CF carrier may provide motivation for avoiding other disease-risk factors, such as excessive alcohol use (e.g., pancreatitis), and may help inform screening or preventive-treatment strategies (e.g., gastrointestinal cancer), the researchers said.

The team also emphasized that genetic testing, combined with data from large medical databases, may help CF carriers, and be extended to carriers of other recessive genetic diseases.

More and more individuals are receiving genetic testing from their providers or from private companies, and if this information can be incorporated into healthcare records, there could be many new opportunities to discover both population-level health risks and individualized treatment options, said Aaron Miller, PhD, UI assistant professor of epidemiology, and the studys first author.

Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Department of Microbiology & Immunology, Columbia University, New York.

Total Posts: 336

Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

Originally posted here:
CF Carriers at Increased Risk for Disease-related Conditions, Study Finds - Cystic Fibrosis News Today

The only thing Amber Freed ever wanted was to be a mom.

Like a lot of people, she and her husband Mark had a hard time conceiving. But after two years of IVF treatments, the Denver couple got a double dose of good news: Amber was pregnant with twins.

Maxwell and Riley were born on March 27, 2017.

"They instantly changed my life and made me so happy," Amber said.

But while the twins came into the world together, they didn't develop at the same pace as they grew. When they were about four months old, Amber and Mark noticed the difference: Maxwell wasn't reaching for toys or his bottle like his sister did he didn't use his hands at all.

After six months of genetic testing, Maxwell was diagnosed with a disease so rare it doesn't even have a name. Instead, it's known by its genetic location: SLC6A1. At the time of Maxwell's diagnosis, there were only 50 known cases in the world.

"I just remember thinking that that wasn't the name of a disease. It was the name of a flight number," said Amber. "I could not understand what my perfect, beautiful little baby boy had, and neither could the doctors."

What they did know was that Maxwell's rare neurological condition would likely cause severe movement and speech disorders and intellectual disability. Between the ages of three and four, Maxwell is expected to develop a debilitating form of epilepsy and start to regress.

Mark and Amber Freed with their twins Riley and Maxwell

Amber Freed

Amber refused to just sit back and watch that happen. She quit her job as a financial analyst at Janus Henderson the day Maxwell was diagnosed, and dedicated herself to finding a cure.

"It was in that moment that there was no future for my most prized possession in the world, that I was not going to accept that answer for little Maxwell," she said. "And I decided to fight like a mother."

She asked the doctors what they would do if Maxwell were their child. They told her to "call scientists."

Working 80 hours a week, Amber became an expert in the biology of the disease and reached out to 140 scientists over the next three months. She founded a non-profit and in 10 months, between that and a GoFundMe campaign, has raised $1 million to fund the initial research into a cure.

Amber was told gene replacement therapy was Maxwell's best hope.

The Food and Drug Administration has already approved gene therapy for some other diseases, including a rare form of vision loss and for some leukemia patients. It involves introducing a new gene through a virus that doesn't make the patient sick. It targets the defective gene, replacing it with a good copy, altering the patient's DNA and it's hoped dramatically improving the disease with a single treatment.

At some point, Amber decided Dr. Steven Gray at the University of Texas Southwestern Medical Center in Dallas was the best person to help her son. But Gray was busy and hard to pin down. So Amber showed up at a conference where she knew he'd be speaking, and sat down next to him. After a four-hour dinner that night, they had a game plan.

Gray's team has advanced their research on SLC6A1 to the point where they're ready to start clinical trials.

But a phase one trial requires money. A lot of money. Amber needs another $3 million to $6 million and connections in the drug industry.

So she's joining the thousands of health industry investors and executives flying to San Francisco for the JPMorgan Healthcare Conference this week. You'll never find a place with a denser concentration of the people who fund drug development. She's hoping for donations or maybe to find a biotech company that would want to invest as a business opportunity.

But the Freed family is racing against the clock. Amber and Mark's little boy, who they call "Mr. Snuggles" because he loves hugging his sister and giving open mouth kisses, could start having debilitating seizures within the next year.

And even if she can get a clinical trial started, there's never a guarantee any patient, including Maxwell, will be admitted.

"The University of Texas Southwestern was very straightforward upfront that you may not be doing this for Maxwell," Amber explained. "There's a chance this may not be done in time for him, that you're doing it for every child that comes after him. And I lived with that fear and uncertainty for a very long time. And I understand and the way I make peace with it is thinking that there's no greater legacy in the world and doing the best you can to really impact a multitude of little lives."

She says her dream is that SLC6A1 will someday be part of a newborn screening panel, and that babies with the defect will be able to be treated and cured before they ever leave the hospital.

"They will never become symptomatic of this disease," she hopes. "There will never be another Maxwell Freed."

CORRECTION: This article was updated to correct the number of hours Amber Freed worked trying to find a cure for her son. It was 80 hours a week.

Read the original post:
'I decided to fight like a mother': How one parent is battling to cure a disease so rare it has no name - CNBC

A doctor speaks with a patient. Individualized drug therapies will disrupt many of the automated processes that have been tested and validated under quality control requirements.

Photo by Adam Berry/Getty Images

Share this article

The idea that we all could lead healthier, longer lives with the advent of personalized health care is a testament to the ingenuity and evolution of medicine.

That being said, cost, regulations and ethical issues are some of the main challenges still to overcome.

According to a recent white paper by PreScouter, Personalized Medicine: Moving From Average to Personal, personalized medicine will not only change the way patients are diagnosed and treated, but it will also disrupt current drug manufacturing protocols.

Large-batch production may become a thing of the past, and thats not necessarily a bad thing. Single-use technologies that produce small batches of drugs are safe and effective and dont have the financial burden of fixed capital investments and constant equipment upkeep.

On the other hand, individualized drug therapies will disrupt many of the automated processes that have been tested and validated under quality control requirements.

This could mean a shift in manufacturing to manual labor, which would require new production facilities and altered supply-chain logistics. Many current personalized treatments involve manufacturing products using a patients own cells. For example, chimeric antigen receptor (CAR) T-cell therapy necessitates the extraction of a patients T-cells, genetic reprogramming of those T-cells so they can fight cancer cells and reinfusion back into the patient.

This type of therapy is a far cry from the simple manufacturing of a drug in-house and exporting it to facilities that directly market to patients. Instead, it is a complex arrangement of appropriate shipping conditions, quality control and safety requirements. And this is all for a single patient. How personalized medicine will ultimately affect manufacturing and distribution is unclear, but the industry will need to adapt to fulfill individualized production needs.

Personalized medicines effect on health care costs is also not clear. It seems likely that specialized treatments made for individuals or small groups of people would increase costs because everyone would require individualized drug production.

On the flip side, genomic sequencing, which creates a roadmap for precision treatment decisions, is not as costly as it was 15 years ago and informed drug targeting could reduce the overall cost of health care by addressing the underlying causes immediately. Perhaps it will be most interesting to observe how insurance companies react to this treatment paradigm shift.

Source: Personalized Medicine: Moving From Average to Personal, PreScouter

Historically, health insurance companies have taken a conservative approach to coverage of genetic testing, which at this point is the primary foundation for identifying individual treatment strategies.

To circumvent this problem, U.S. lawmakers on both sides of the aisle are drafting legislation like the Advancing Access to Precision Medicine Act, which would allow states to apply for exceptions to the federal medical assistance percentage rate to cover whole genome sequencing clinical services for children whose diseases may have an underlying genetic component.

Genetic and genomic sequencing companies are also doing their part in making personalized medicine more palatable to insurance companies by offering to pick up part of the tab.

Under a contract between Harvard Pilgrim Health Care and Illumina, Harvard Pilgrim will cover to a predetermined limit prenatal genetic testing for women under the age of 35 with average-risk pregnancies, while Illumina, a next-generation genetic testing company, will cover the remaining cost. Partnerships like this may show the utility of genetic testing while potentially reducing the financial burden of lifelong health care for improperly diagnosed and treated conditions.

The number of approved personalized medicines has increased dramatically since 2005.

This consists of both conventional modalities as well as novel approaches; for example, in 2017, the U.S. Food and Drug Administration (FDA) approved the use of CAR T-cell therapy to treat B-cell lymphoma. Despite this rise in approval, some challenges to regulation have arisen.

Personalized Medicine at the FDA: Then and Now

Source: Personalized Medicine: Moving From Average to Personal, PreScouter

Personalized medicine is possible thanks to the thousands of people who have essentially donated their medical information.

Much of the data now stored in biobanks and used to make informed treatment decisions were gathered when personalized medicine was naught but a thought. Potential ethical issues of using this data, where informed consent was given at a time when precision medicine was inconceivable, have been resolved. The language of consent forms was broad and therefore ruled inclusive for modern research questions.

In an age of data compiling and sharing across the academic, industry and health care settings, the most important considerations are patient confidentiality, protection and ownership of information, and proper disposal of materials.

While interdisciplinary collaboration is great for innovation and discovery, it can also confuse the proper channels for information and sample handling. To get a handle on this, patients now have the power to control their information. Dynamic consent requires communication between the patient and the user of the patients information when the user plans to apply the data to a new project. The patient can deny or allow consent at any point and will always be informed of the manner in which their information is to be used.

But dynamic consent is neither widespread nor a requirement across all biobanks. Overall, there is a lack of consistency in consent requirements and perhaps a need for more strict and pervasive health data protection legislation.

As is the case with most scientific advancements, the regulatory, social and economic facets must play catch-up with the technology.

Clear and transparent processes and communication will be necessary to ensure that personalized medicine is practiced efficiently and effectively. With the power to address unmet medical needs at the individual level, universal personalized medicine is the goal.

Original post:
Personalized Medicine Is About to Go Mainstream With Big Implications for Health Care - BRINK

CHICAGO--(BUSINESS WIRE)--Xeris Pharmaceuticals, Inc. (Nasdaq: XERS), a specialty pharmaceutical company leveraging its novel technology platforms to develop and commercialize ready-to-use injectable and infusible drug formulations, today announced positive topline results from the in-clinic stage of a Phase 2 study of its developmental ready-to-use (RTU) glucagon for the prevention of hypoglycemia during and after moderate-to-high intensity aerobic exercise in adults with Type 1 diabetes mellitus (T1D).

Results from the in-clinic stage of the Phase 2 Exercise-Induced Hypoglycemia (EIH) study show that a mini dose of RTU glucagon was adequate to maintain normal blood glucose levels during prolonged, moderate-to-intense aerobic exercise. Episodes of hypoglycemia were observed both during and after the prescribed exercise session. Overall, there were more EIH episodes among subjects who received standard of care (placebo plus 50% insulin pump reduction) than subjects who received RTU glucagon plus 50% insulin pump reduction. The use of glucose tablets to treat hypoglycemia during and after exercise was less with RTU glucagon when compared to standard of care. Treatment-emergent adverse eventswith a mini dose of RTU glucagon were comparable to placebo, including negligible injection site reactions. In this phase of the study, mini doses of RTU glucagon were safe and well tolerated, and no serious adverse events occurred.

For people with Type 1 diabetes, prolonged and vigorous aerobic exercise can be dangerous if not planned out and executed carefully. The current standard of care includes multiple preparation steps, such as insulin pump reduction well before exercise, and eating high glucose foods before, during, and after the exercise session. These steps can be a barrier to exercise, and therefore, many people with diabetes do not achieve 2 hours of aerobic exercise per week as per ADA guidelines, said Paul R. Edick, Xeris Chairman and CEO. Our goal with this study is to show that a mini dose (150 g) of Xeris liquid stable glucagon, administered immediately prior to aggressive aerobic exercise, can alleviate this burden and prevent exercise-induced hypoglycemia. This data from the in-clinic portion of our ongoing Phase 2 study, we believe indicates that we can do just that. The second half of the study, where subjects will be exercising on their own at home, will inform us further as to the safety and effectiveness of using mini doses of glucagon to reduce the risk of experiencing hypoglycemia during exercise for this population.

This study is a randomized, placebo-controlled, double-blind, two-treatment, two-period, crossover comparison in a clinical research center setting, followed by a randomized, placebo-controlled, two-treatment double-blind with a parallel open label, 3-arm comparison in an outpatient setting to evaluate the preliminary efficacy and safety of RTU glucagon to prevent EIH in adults with T1D, who perform regular, moderate-to-high intensity aerobic exercise. The in-clinic stage is now unblinded and complete, while the blinded outpatient stage is currently ongoing. The results of the outpatient stage will be available in the first half of 2020. For more information, visit http://www.clinicaltrials.gov Identifier: NCT03841526.

About Exercise-Induced Hypoglycemia (EIH)

For persons with diabetes, especially with T1D, the lack of pancreatic-cell function leads to the requirement for exogenous insulin (introduced into the body by injection or infusion). Circulating levels of insulin consequently cannot be regulated endogenously and depend on the quantity and timing of insulin taken by the individual before exercise. Thus, insulin levels are often higher than they would be in the absence of diabetes, which has the result of limiting glucose production by the liver while stimulating glucose uptake by muscle, adipose, and liver cells for storage. As a result, blood glucose levels often decrease dramatically during physical activity for individuals with T1D unless carbohydrates are consumed before, during, and after exercise. This condition of low blood glucose with physical activity is known as EIH.

About Glucagon

Glucagon is a metabolic hormone secreted by the pancreas that raises blood glucose levels by causing the liver to rapidly convert glycogen (the stored form of glucose) into glucose, which is then released into the bloodstream. Glucagon and insulin are two critical hormones in a glycemic control system that keep blood glucose at the right level in healthy individuals. In people with diabetes who are dependent on insulin, this control system is disrupted, and insulin must be injected to avoid high levels of blood glucose (hyperglycemia). The opposite effect, or low blood glucose (hypoglycemia), is also prevalent in this population due to dysregulated glucagon secretion. Severe hypoglycemia is a serious condition and can lead to seizures, coma, potential brain injury and, if untreated, death.

Glucagon is the standard of care for treating severe hypoglycemia. According to the American Diabetes Association, glucagon should be prescribed for all individuals at increased risk of clinically significant hypoglycemia, defined as blood glucose <54 mg/dL (3.0 mmol/L). Leveraging XeriSol, one of Xeris two proprietary formulation technology platforms, Xeris has the potential to provide the first ready-to-use, room-temperature stable liquid glucagon for use by people with diabetes and other conditions to prevent or manage various forms of hypoglycemia and improve glucose control.

AboutXeris Pharmaceuticals, Inc.

Xeris (Nasdaq: XERS) is a specialty pharmaceutical company delivering innovative solutions to simplify the experience of administering important therapies that people rely on every day around the world. With a novel technology platform that enables ready-to-use, room-temperature stable formulations of injectable and infusible therapies, the company is advancing a portfolio of solutions in various therapeutic categories, including its first commercial product, Gvoke. Its proprietary XeriSol and XeriJect formulation technologies have the potential to offer distinct advantages over conventional product formulations, including eliminating the need for reconstitution, enabling long-term, room-temperature stability, significantly reducing injection volume, and eliminating the requirement for intravenous (IV) infusion. With Xeris technology, new product formulations are designed to be easier to use by patients, caregivers, and health practitioners and help reduce costs for payers and the healthcare system.

Xeris is headquartered inChicago, IL.For more information, visitwww.xerispharma.com, or follow us onTwitter,LinkedInorInstagram.

Forward-Looking Statements

Any statements in this press release about future expectations, plans and prospects for Xeris Pharmaceuticals, Inc., including statements regarding the acceptance of Gvoke in the marketplace, the market and therapeutic potential of its product candidates, expectations regarding clinical data, the timing or likelihood of regulatory approval and commercialization of its product candidates, the timing or likelihood of expansion into additional markets, expectations regarding the timing of the commercial launch of Gvoke HypoPen, the potential utility of its formulation platforms and other statements containing the words "will," "would," "continue," and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including, without limitation, the regulatory approval of its product candidates, its ability to market and sell its products, if approved, its reliance on a single source supplier for Gvoke HypoPen and other factors discussed in the "Risk Factors" section of the most recently filed Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission, as well as discussions of potential risks, uncertainties, and other important factors in Xeris subsequent filings with the Securities and Exchange Commission. Any forward-looking statements contained in this press release speak only as of the date hereof, and Xeris expressly disclaims any obligation to update any forward-looking statements, whether as a result of new information, future events or otherwise.

The Company intends to use the investor relations portion of its website as a means of disclosing material non-public information and for complying with disclosure obligations under Regulation FD.

Read the original:
Xeris Pharmaceuticals Announces Positive Results from the In-Clinic Stage of a Phase 2 Study of Its Developmental Ready-To-Use (RTU) Glucagon in...

IN the perfect world, every time you get between the sheets will be a magical experience.

But in reality it doesn't always work that way.

1

Lots of people will go through various problems throughout their life when it comes to sex.

Now health subscription brand EveAdam has uncovered the 10 most common difficulties encountered in bedrooms in the UK and in the US.

Their study involved analysis of Reddit threads compared with Google search data.

The findings revealed that erectile dysfunction was the most searched term at 286,000 searches per month.

And Cardiff was the city googling the term the most.

Here are the top 10 most common sex issues... and how to combat them:

Erectile dysfunction (ED) is very common it affects about half of men aged between 40-70 year olds.

It can be a symptom of other medical conditions, such as diabetes or being at high risk of heart disease, so its important to talk to your doctor.

Dr Sarah Jarvis, GP and clinical lead at Patient.info, told The Sun Online: "Its also vital to remember that excess alcohol is an extremely common cause of ED.

"In recent years, several tablets have been developed to treat ED Viagra is perhaps the best known but there are several others, which work for different lengths of time.

"Theyre effective for about 4 in 5 men and are now available from many pharmacists, as well as on prescription.

"Its really important not to be tempted by cheap email offers of miracle cure tablets for ED theyre often counterfeit, which means they may not work and can even be dangerous."

Most women use contraception at some point.

There are dozens of different types, which may or may not include hormones.

Dr Jarvis said: "If your current contraception isnt suiting you, its important to speak to your GP or family planning clinic.

"For instance, if youre taking the contraceptive pill, it may be possible to change you to a different one which suits you better.

"Or you may prefer a long acting form of contraception such as the copper coil, a hormone-releasing coil or an implant, which you dont need to remember to take every day or use every time you have sex."

Vaginal dryness becomes much more common after the menopause, when levels of the female hormone oestrogen drop.

Dr Jarvis said: "If this is your main problem, a topical form of HRT, such as pessaries, gel or a vaginal ring, can often solve the problem.

"Several non-hormonal vaginal moisturisers are also available from the pharmacist.

"However, vaginal dryness can also arise because of lack of arousal or anxiety if you think this might be the case, speak to your GP."

Premature ejaculation is common and isnt due to a serious underlying medical condition.

Dr Jarvis said: "One of the most common causes is anxiety and its more common in younger men.

"Sometimes just relaxing and taking your time about sex is enough to solve the problem.

"Otherwise, there are creams and tablets available on prescription."

Lots of women worry about conceiving, but often there is no cause for concern.

Many couples take several months to conceive, but six in seven will conceive within a year of trying and more than nine in 10 conceive within two years.

Dr Jarvis said: "If you have been having regular sex for at least a year, you and your partner should visit your doctor together.

"Your GP can arrange some tests to see if early referral to a specialist clinic is needed.

"If these tests are normal, your doctor wont usually be able to refer you until you have been trying for at least two years.

"However, if youre not having periods or have very irregular periods, or if the woman in the couple is over 36, you may be referred sooner.

"There are a variety of treatments depending on whether a cause (such as low sperm count or blocked fallopian tubes) is found.

"Being overweight, drinking too much alcohol, being physically inactive and smoking can all reduce your risk of conceiving.

"Getting into good physical shape may increase your chances of getting pregnant, and can certainly help you to have a healthy pregnancy."

Getting pregnant is your decision ideally your decision as a couple.

Nobody else should have any say in when you start trying for a baby.

Dr Jarvis said: "If you feel friends or members of your family are trying to put pressure on you, speak to your partner and get their support for both of you to have a gentle chat with those people.

"If youre feeling the pressure yourself for instance if youre trying to get pregnant and its not happening the best thing you can do is remember that most people dont get pregnant straight away.

"Many couples take several months to get pregnant and women who get pregnant the first time they try are the exception.

"Take steps to get yourself in good physical shape stopping alcohol and smoking, exercising regularly, losing weight of youre overweight, taking a daily folic acid supplement. And then enjoy trying!"

Performance anxiety is really common its anxiety about performing a specific act or task, and one of the most common anxieties is in relation to sex.

It often leads to a vicious cycle... perhaps you had too much to drink on one occasion and couldnt perform in the bedroom.

This preys on your mind and next time youre planning to have sex, your anxiety level increases.

Anxiety makes it harder to get or keep an erection, so you cant perform next time and so on.

Dr Jarvis said: "The best way to reduce performance anxiety is to relax and take things slowly, although this can be easier said than done.

"You may think that alcohol will help loosen you up but actually, it can often have a negative impact on your ability to perform.

"If youre worried about performing with your partner, talk to her about it she may be really relieved, as she may believe you were avoiding sex because youd gone off her.

"Set the tone with a romantic date, away from distractions and stresses, and take things slowly.

"If this doesnt work, you may find it helpful to ban sex for a few weeks but still cuddle and be close this takes the pressure off the need to get an erection, which may mean youre more likely to achieve one.

"If its having a significant impact on your life, speak to your GP sometimes counselling can help."

There are lots of reasons for low libido in both men and women.

Sometimes theyre hormonal men may have low levels of testosterone, and low libido is common after the menopause in women.

"Relationship problems are a common cause you may not feel like sex with your partner but fancy other people." says Dr Jarvis.

"If youre a man, continuing to get early morning erections can be a sign that theres a psychological cause.

"Or it can be a symptom of depression.

"If its bothering you, speak to your GP the treatment will depend on the cause."

Body image issues have always been around but they have undoubtedly become more common with the rise in social media.

So many of us depend on likes for our self esteem, and forget that the images other people put out on social media are doctored to look more beautiful.

Dr Jarvis said: "Taking some time off social media is sometimes all that is needed.

"However, its important to remember that poor body image is closely linked to eating disorders, and to be aware of the warning symptoms.

"Poor body image is also closely linked to depression it can be a symptom or a cause of depression.

"If its affecting your life, speak to your GP counselling may help you to identify whats causing your body image issues and help you to become more realistic and realise youre beautiful just as you are."

Millions of women in the UK have weakness of their pelvic floor, which can lead to leaking urine when you cough, sneeze, laugh, run or jump.

Lots of factors including childbirth, menopause, constipation and being overweight can make it worse.

"For most women, regular pelvic floor exercises can make a major difference, and can sometimes solve the problem completely," says Dr Jarvis.

"Youll need to learn how to do them properly, and to do them regularly for several weeks before you notice a significant improvement."

More:
The 10 most common sex issues revealed and a doctors tips to combat them - The Sun

A new ruling from the B.C. Court of Appeal reaffirms a 15-year-old'sright to undergo hormone treatment to transition to male, despite his father's objections.

But the ruling also throws out part of a lower court order that said the father's misgendering of his son constituted "family violence"under the Family Law Act.

The teen, who was 14 when the conflict began, had decided to undergo medical treatment for gender dysphoria recommended by the Gender Clinic at B.C. Children's Hospital. The teen's mother approved of the treatment, but his father objected.

The teen, his father, mother, and the many health professionals named in the case cannot be identified, due to apublication ban.

The reasons for the appeal court's decision, which was written by two justices and concurred by the third, detail mixed outcomes for the teen and his father one of the lower court orders wasupheld, while some were dismissed in part.

The appeal judges found there was no reason to strike down the B.C. Supreme Court ruling that the teen's consent to undergo the hormone treatment was valid.

In their written reasons, the justices did slightly limit the order, saying the teen was exclusively entitled to consent to aspecifictreatment if it is one he understands, not treatment for gender dysphoria, generally.

The father won a partial victory in the case on Friday when the decision was handed down. A lower court order forbid him from attempting to convince his son to stop medical treatment, use female gender pronouns, usethe female name the teen was given at birth, or refer to him as a girl.

The father had given interviews and made public comments about his son referring to him as a girl.

A B.C. Supreme Court judge had ruled thatidentifying the teen as a girl would be considered family violence under the Family Law Act, given the harm it had caused him. That has been struck down by the new ruling.

In the decision, the judges write that misgenderingthe teen does not constitute a act of family violence, which was part of a protection order enforceable by police. Instead, the appeal court made what's called a conduct order that the father refer to his son as a boy, use male pronouns and his male name. A conduct order is not enforcable by police.

The appeal judges ruled that the father is entitled to his views and to communicate those views to his son, and that, though there was evidence the father's refusal to accept the teen's gender was clearly harmful, there was not sufficient evidence that the father intended to hurt his son.

In the justices' reasons, they call the father's conduct "seriously misguided." They urgethe father to engage with his son's medical team "in an effort to consider other points of view," and to "exercise restraint" with his son and listen to his point of view.

Under the appeal court decision, the father is allowed to express his opinion and share his son's private information in private communications with family, close friends andadvisors, but the appeal judges upheld the part of the B.C. Supreme Court order that he not express those opinions publicly.

Do you have more to add to this story? Email rafferty.baker@cbc.ca

Follow Rafferty Baker on Twitter: @raffertybaker

Continue reading here:
B.C. Court of Appeal decision a mixed outcome for trans teen and disapproving father - CBC.ca