Category Archives: Genetic medicine

Sept. 4, 2020 23:00 UTC

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)-- Genentech, Inc., a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced that the U.S. Food and Drug Administration (FDA) has approved Gavreto (pralsetinib) for the treatment of adults with metastatic rearranged during transfection (RET) fusion-positive non-small cell lung cancer (NSCLC) as detected by an FDA approved test. This indication was approved under the FDAs accelerated approval program based on data from the Phase I/II ARROW study. Continued approval for this indication may be contingent upon verification and description of clinical benefit in a confirmatory trial. Gavreto is a once-daily, oral precision therapy designed to selectively target RET alterations, including fusions and mutations.

The FDA approval of Gavreto for RET fusion-positive non-small cell lung cancer is an important step towards our goal of providing an effective treatment option for every person diagnosed with lung cancer, no matter how rare or hard-to-treat their type of disease, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. We remain committed to finding personalized treatment options for people with cancer based on specific genomic or molecular alterations, and we look forward to partnering with Blueprint Medicines to further explore the potential of Gavreto across multiple RET-altered tumor types.

RET-activating fusions and mutations are key disease drivers in many cancer types, including NSCLC and medullary thyroid cancer (MTC), and treatment options that selectively target these genetic alterations are limited. In NSCLC, RET fusions represent approximately 1-2% of patients. Biomarker testing for these fusions is the most effective way to identify people who are eligible for treatment with Gavreto.

The approval is based on the results from the Phase I/II ARROW study, in which Gavreto produced durable clinical responses in people with RET fusion-positive NSCLC with or without prior therapy, and regardless of RET fusion partner or central nervous system involvement. Gavreto demonstrated an overall response rate (ORR) of 57% (95% CI: 46%, 68%) and complete response (CR) rate of 5.7% in the 87 people with NSCLC previously treated with platinum-based chemotherapy, and the median duration of response (DoR) was not reached (95% CI: 15.2 months, not reached). In the 27 people with treatment-nave NSCLC, the ORR was 70% (95% CI: 50%, 86%) with an 11% CR rate. The most common adverse reactions (25%) were fatigue, constipation, musculoskeletal pain and increased blood pressure (hypertension).

Gavreto is now the sixth FDA-approved medicine in Genentechs portfolio of treatments for lung cancer. The FDA granted Breakthrough Therapy Designation to Gavreto for the treatment of RET fusion-positive NSCLC that has progressed following platinum-based chemotherapy and for RET mutation-positive MTC that requires systemic treatment and for which there are no acceptable alternative treatments.

The FDA has also granted Priority Review to Gavreto for the treatment of people with advanced or metastatic RET-mutant MTC and RET fusion-positive thyroid cancer, and is expected to make a decision on approval by February 28, 2021. This New Drug Application (NDA) was accepted for review under the FDAs Real-Time Oncology Review (RTOR) pilot program, which aims to explore a more efficient review process to ensure safe and effective treatments are available to patients as early as possible.

For those who qualify, Blueprint Medicines will offer patient assistance programs for people prescribed Gavreto by their doctor through YourBlueprint . Please visit http://www.yourblueprint.com or contact 1-888-BLUPRNT for more information.

About the ARROW study

ARROW (NCT03037385) is a Phase I/II, open-label, first-in-human study designed to evaluate the safety, tolerability and efficacy of Gavreto, administered orally in people with rearranged during transfection (RET) fusion-positive non-small cell lung cancer (NSCLC), RET-mutant medullary thyroid cancer (MTC), RET fusion-positive thyroid cancer and other RET-altered solid tumors. The trial consists of two parts: a dose escalation portion, which is complete, and an expansion portion in people treated with 400 mg of Gavreto, once-daily. ARROW is being conducted at multiple sites across the United States, European Union and Asia.

About lung cancer

According to the American Cancer Society, it is estimated that more than 228,000 Americans will be diagnosed with lung cancer in 2020, and NSCLC accounts for 80-85% of all lung cancers. It is estimated that approximately 85% of lung cancer diagnoses in the United States are made when the disease is in the advanced stages. In NSCLC, RET fusions represent approximately 1-2% of patients.

About Gavreto

Gavreto is a once-daily, oral precision therapy designed to selectively target RET alterations, including fusions and mutations, regardless of the tissue of origin. Preclinical data have shown that Gavreto inhibits primary RET fusions and mutations that cause cancer in subsets of patients, as well as secondary RET mutations predicted to drive resistance to treatment. Blueprint Medicines and Genentech are also co-developing Gavreto for the treatment of patients with various types of RET-altered thyroid cancers and other solid tumors.

Gavreto U.S. Indication

Gavreto (pralsetinib) is indicated for the treatment of adult patients with metastatic rearranged during transfection (RET) fusion-positive non-small cell lung cancer (NSCLC) as detected by an FDA approved test.

This indication is approved under accelerated approval based on overall response rate and duration of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

Important Safety Information

Gavreto may cause serious side effects, including:

Lung problems (pneumonitis) occurred in 10% of patients who received Gavreto, including 2.7% with Grade 3/4, and 0.5% with fatal reactions. Monitor for pulmonary symptoms indicative of interstitial lung disease (ILD)/pneumonitis. Withhold Gavreto and promptly investigate for ILD in any patient who presents with acute or worsening of respiratory symptoms (e.g., dyspnea, cough, and fever). Withhold, reduce dose or permanently discontinue Gavreto based on severity of confirmed ILD.

Increased blood pressure (hypertension) occurred in 29% of patients, including Grade 3 hypertension in 14% of patients. Overall, 7% had their dose interrupted and 3.2% had their dose reduced for hypertension. Treatment-emergent hypertension was most commonly managed with anti-hypertension medications. Do not initiate Gavreto in patients with uncontrolled hypertension. Optimize blood pressure prior to initiating Gavreto. Monitor blood pressure after 1 week, at least monthly thereafter and as clinically indicated. Initiate or adjust anti-hypertensive therapy as appropriate. Withhold, reduce dose, or permanently discontinue Gavreto based on the severity.

Liver problems (hepatotoxicity): Serious hepatic adverse reactions occurred in 2.1% of patients treated with Gavreto. Increased AST occurred in 69% of patients, including Grade 3/4 in 5.4% and increased ALT occurred in 46% of patients, including Grade 3/4 in 6%. The median time to first onset for increased AST was 15 days (range: 5 days to 1.5 years) and increased ALT was 22 days (range: 7 days to 1.7 years). Monitor AST and ALT prior to initiating Gavreto, every 2 weeks during the first 3 months, then monthly thereafter and as clinically indicated. Withhold, reduce dose or permanently discontinue Gavreto based on severity.

Grade 3 bleeding (hemorrhagic events) occurred in 2.5% of patients treated with Gavreto including one patient with a fatal hemorrhagic event. Permanently discontinue Gavreto in patients with severe or life-threatening hemorrhage.

Impaired wound healing can occur in patients who receive drugs that inhibit the vascular endothelial growth factor (VEGF) signaling pathway. Therefore, Gavreto has the potential to adversely affect wound healing. Withhold Gavreto for at least 5 days prior to elective surgery. Do not administer for at least 2 weeks following major surgery and until adequate wound healing. The safety of resumption of Gavreto after resolution of wound healing complications has not been established.

Based on findings from animal studies and its mechanism of action, Gavreto can cause fetal harm when administered to a pregnant woman. Advise pregnant women of the potential risk to a fetus. Advise females of reproductive potential to use effective non-hormonal contraception during treatment with Gavreto and for 2 weeks after the final dose. Advise males with female partners of reproductive potential to use effective contraception during treatment with Gavreto and for 1 week after the final dose. Advise women not to breastfeed during treatment with Gavreto and for 1 week after the final dose.

Common adverse reactions (25%) were fatigue, constipation, musculoskeletal pain, and hypertension. Common Grade 3-4 laboratory abnormalities (2%) were decreased lymphocytes, decreased neutrophils, decreased phosphate, decreased hemoglobin, decreased sodium, decreased calcium (corrected) and increased alanine aminotransferase (ALT).

Avoid coadministration with strong CYP3A inhibitors. Avoid coadministration of Gavreto with combined P-gp and strong CYP3A inhibitors. If coadministration cannot be avoided, reduce the Gavreto dose. Avoid coadministration of Gavreto with strong CYP3A inducers. If coadministration cannot be avoided, increase the Gavreto dose.

Please click here to see the full Prescribing Information for Gavreto.

Gavreto, Blueprint Medicines, YourBlueprint and associated logos are trademarks of Blueprint Medicines Corporation.

About Genentech in lung cancer

Lung cancer is a major area of focus and investment for Genentech, and we are committed to developing new approaches, medicines and tests that can help people with this deadly disease. Our goal is to provide an effective treatment option for every person diagnosed with lung cancer. We currently have six approved medicines to treat certain kinds of lung cancer and more than 10 medicines being developed to target the most common genetic drivers of lung cancer or to boost the immune system to combat the disease.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit http://www.gene.com.

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Genentech Announces FDA Approval of Gavreto (pralsetinib) for the Treatment of Adults With Metastatic RET Fusion-Positive Non-Small Cell Lung Cancer -...

Foodborne pathogens are very common and usually benign, but certain virulent strains of pathogens can result in severe disease and even death. Distinguishing specific strains of pathogens can help scientists better understand them and develop biomarkers to help detect them in patients, expediting diagnosis and treatment.

UB researchers have now completed the genomic analysis of a specific strain of Shiga-toxin E. coli (STEC) that can cause severe disease outbreaks and is increasingly common. The research could play a role in expanding the understanding of STEC infections and, potentially, in developing vaccines against them.

According to the Centers for Disease Control and Prevention, STEC are estimated to cause more than 265,000 infections per yearin the U.S., and are associated with more than 3,600 hospitalizations and approximately 30 deaths.

Published in BMC Genomics last month, the paper describes the genomic analysis completed on a unique STEC strain isolated from an otherwise healthy 2 -year-old child living in Davidson County, Tennessee. The pathogen caused severe illness, including hemolytic uremic syndrome, a condition that destroys red blood cells, lowers platelets and blocks blood vessels in kidneys, resulting in anemia and kidney damage.

The child survived but was hospitalized for a month and sustained severe complications affecting multiple organ systems, including her lungs, heart, kidney, brain, circulatory system and gastrointestinal tract.

The Shiga-toxin producing E. coli she was infected with is a non-0157 STEC. While the pathogens classified as 0157 STEC infections generally are more common and result in more severe disease, the number of emerging, non-0157 STEC pathogens has been on the increase. Some lead to severe disease, creating a growing public health concern, according to the UB researchers.

The paper states that there are more than 400 of these non-0157 STEC strains, and more than a quarter are reported to cause gastrointestinal disease, often presenting first as bloody diarrhea with hemolytic uremic syndrome and if untreated, in rare cases, death.

The specific pathogen the child was infected with was a STEC 0145:H25. Since genomic studies on emerging non-0157 STEC are limited, our studies are significant because they reveal the genetic makeup of emergent STEC 0145:H25 in comparison with other STEC strains, says Oscar G. Gmez-Duarte, corresponding author on the paper, associate professor and chief of the Division of Pediatric Infectious Diseases in the Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences at UB, and a pediatrician with UBMD Pediatrics.

The findings reveal how this emerging STEC causes severe disease and that it may be as virulent, or even more virulent, than more common STEC strains, leading to severe and even deadly disease in susceptible hosts, he says. It also provides information on how this potentially preventable infection continues to affect vulnerable individuals.

A key finding of the study, he says, was that this 0145:H25 serotype leads to particularly severe infection. Moreover, in addition to carrying virulence genes present in 0157 STEC, it has additional genes and new potential virulence genes as compared to other non-0157 strains that have been studied. These findings deserve further analysis to understand the pathogenesis of these emergent STEC infections, Gmez-Duarte says.

The analysis was conducted through a collaboration between the Department of Pediatrics researchers and colleagues at UBs New York State Center of Excellence in Bioinformatics and LifeSciences, whose expertise in bioinformatics and whole genome sequencing analysis allowed the team to uncover the genetic information critical to understanding where these strains are derived from and how they may be traced to unique reservoirs, such as contaminated food products or infected livestock.

Gmez-Duarte is an expert in infectious gastrointestinal diseases and diarrhea in children. He established a global health research program, the International Enteric Vaccines Research Program (IEVRP), dedicated to studying the epidemiology, pathogenesis and vaccine development of childhood gastrointestinal infections within the U.S. and abroad. He has also conducted vaccine development research for pediatric infectious diseases.

UB co-authors are Julio Guerra of the Department of Pediatrics and Jonathan E. Bard and Donald Yergeau of the Genomics and Bioinformatics Core of UBs NYS Center of Excellence in Bioinformatics and Life Sciences. Chengxian Zhang and Natasha Halasa of Vanderbilt University are also co-authors.

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Genomic analysis reveals insights on virulent, emerging foodborne pathogen - UB Now: News and views for UB faculty and staff - University at Buffalo...

Philadelphia, September 3, 2020 New findings from Childrens Hospital of Philadelphia (CHOP) show that some patients with a rare and aggressive form of leukodystrophy may benefit from receiving treatment with a class of targeted therapy drugs that could improve their neurological function. A correspondence about these findings was published today in the New England Journal of Medicine.

Aicardi-Goutires syndrome (AGS) is a rare genetic disorder and type of leukodystrophy that affects the brain and immune system. In patients with AGS, the bodys immune system turns on itself in a destructive way, targeting the brains white matter, causing most children with the disorder to experience mild to severe intellectual or physical impairments. Most children with AGS are unable to walk or talk and have multisystemic complications, including skin inflammation.

Prior studies have linked the activation of interferons signaling proteins that respond to various immune disruptions to exacerbated symptoms in AGS. Researchers at CHOP wanted to explore whether a class of small molecule inhibitor drugs called janus kinase (JAK) inhibitors could be used to block interferon activation in a way that helped these patients.

Because treatment options for AGS are limited and the symptoms that these patients experience are so severe, there is a need to explore a wide variety of options, said senior author Adeline Vanderver, MD, an attending physician in the Division of Neurology, Program Director of the Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at CHOP.

The study was conducted at CHOP with 35 international patients with genetically confirmed AGS. These patients received baricitinib, an oral JAK1 and JAK2 inhibitor, with doses based on each patients renal function, age and symptoms. Patients had their developmental histories evaluated from the onset of the disease to the end of the study, which ranged from 7.4 months to 41.5 months. The study team analyzed a variety of developmental milestones, including head control, sitting, rolling, smiling, babbling, and the use of single words and word combinations.

Before the patients in this study received treatment, 26 of the 35 had stable or declining neurologic function, and 9 of the 35 patients gained one or two of these developmental skills after disease onset. However, during the study, 20 patients met new milestones, and 12 patients gained between two to seven new skills. The improvements were typically observed within three months into the study and persisted. Children who received higher doses of the therapy appeared to achieve more of these milestones.

Some of the AGS patients who received baricitinib were at risk for developing thrombocytosis, leukopenia, and infection and therefore should be monitored closely while taking the drug.

Measuring neurologic improvements in these patients is a complex process, but the results of this study are encouraging, especially because we observed improvements even in patients with severe and long-standing disease, Vanderver said.

Eli Lilly provided the medication for the study and performed the safety laboratory tests. This work was supported by grants NINDS U01 NS106845 and NICHD U01HD082806 and the State of Pennsylvania, Commonwealth Universal Research Enhancement Program, the J.A. Kamens Chair in Translational Neurotherapeutics from CHOP; grant KL2TR001879 from the National Center for Advancing Translational Sciences of the NIH, K23NS114113 the National Institute of Neurological Disorders and Stroke of the NIH, and K08-HL140129 from the Parker B. Francis Foundation; and funding from the Department of Pediatrics at CHOP.

Vanderver et al, Janus Kinase Inhibition in the AicardiGoutires Syndrome. N Engl J Med, online September 3, 2020. DOI: 10.1056/NEJMc2001362.

About Childrens Hospital of Philadelphia: Childrens Hospital of Philadelphia was founded in 1855 as the nations first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, Childrens Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. In addition, its unique family-centered care and public service programs have brought the 564-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu

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Existing Class of Drugs May Improve Neurological Function in Patients with Rare, Aggressive Genetic Disorder - Newswise

Researchers have developed a coherent map of genes in the heart and looked at how they may cause heart diseases, which could pave the way for new treatments for these illnesses.

Heart diseases are a complex set of diseases influenced by different genes, and it is challenging to understand which genes are responsible for a particular disease, say experts.

To help scientists unravel the complex web of genes and how they interact, researchers from the National University of Singapore Yong Loo Lin School of Medicine (NUS Medicine) and the National University Hospital created what they said is the first map of the heart's genes and the "switches" between them that control how the genes behave and contribute to heart diseases.

Genes code for specific traits, and the switches are the non-coding portions of DNA between the genes.

Each gene has more than one switch and the switches may be far away from the genes that they control, making it tricky for scientists to match the switches to the genes.

The genetic heart map locates the genes and their switches so that scientists can eventually study them to create targeted treatments, such as gene therapy.

"If we understand how these genes are controlled, then we may find ways to control heart failure itself... and identify new disease-causing genes," said Professor Roger Foo from the university's department of medicine, who led the research team.

Heart diseases, which eventually lead to heart failure, cause one-third of all deaths in Singapore annually.

The researchers are part of the Cardiovascular Disease Translational Research Programme, one of nine new strategic research focus areas that were established at NUS Medicine in July.

The new focus areas, which also include infectious diseases, healthy longevity and precision medicine, aim to create greater synergy and collaboration between basic and clinical scientists within the National University Health System, and to deliver research outcomes that address current clinical and national healthcare issues.

Professor Chng Wee Joo, vice-dean of research at NUS Medicine, said: "We hope that these nine programmes will deliver not just outstanding research, but over the next five to 10 years, make some real impact on how we treat our patients and on the population's health."

BETTER UNDERSTANDING

If we understand how these genes are controlled, then we may find ways to control heart failure itself... and identify new disease-causing genes.

PROFESSOR ROGER FOO, from the National University of Singapore's department of medicine, who led the team that developed the map of genes in the heart.

The development of the gene map was published as two companion publications in the journals Circulation Research and Circulation last month and this month respectively.

The map took about five years to develop, and the researchers studied tissues from 36 healthy hearts and 34 failing hearts to map out the genes and switches.

Prof Foo said some scientists from Singapore and abroad have reached out to them to find out more about various genes from the map.

He also noted that none of the drugs currently used in treating heart disease targets genes, and cardiovascular research is not as well funded compared with other health conditions.

"The place where a lot of gene targeting is happening, I feel, is in cancer. Looking at the progress that cancer treatment has seen in recent years with targeted therapy, this is our dream for cardiovascular disease also, now that we have mapped out all these specific processes," he added.

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NUS team's map sheds light on heart diseases - The Straits Times

Could gene therapy provide a solution to HIV? A new research project aims to find out.

The National Institutes of Health(NIH) has backed researchers at the University of Southern California and the Fred Hutchison Cancer Center with a five-year, $14.6 million grant to develop a gene therapy that could potentially control HIV without the need for daily medications. Most HIV patients take a well-regimented cocktail of medications each day to control the virus. This therapy could change that. According to an announcement from the Keck School of Medicine at USC, the goal will be to develop a therapy that prepares patients for a stem cell transplantation using their own cells with little to no toxicity, engineers their own stem cells to fight HIV and stimulates those cells to quickly produce new and engineered immune cells once they're reintroduced into the patient. The hematopoietic stem cell transplants, also known as bone marrow transplants, have been used to treat some blood cancers. The idea is to infuse an HIV patient withhealthy donor blood stem cells that can grow into any type of blood or immune cell.

The gene therapy strategy has been inspired by three cases where leukemia patients who also had HIV received blood stem cell transplants from donors who also carried a mutation that confers immunity to HIV. The mutation was in the CCR5 gene, which encodes a receptor that HIV uses to infect immune cells and is present in about 1 percent of the population, USC said.

The program will engineer blood cells to remove CCR5 from a patient's own stem cells.That will be combined with other genetic changes so that the progeny of engineered stem cells will release antibodies and antibody-like molecules that block HIV.

In addition to the potential gene therapy treatment, researchers are also assessing whether or not CAR-T treatments will benefit HIV patients. Researchers from Harvard University developed a Dual CAR T-cell immunotherapy that can potentially help fight HIV infection. First reported by Drug Target Review, the HIV-specific CAR-T cell is being developed to not only target and eliminated HIV-infected cells, but also reproduce in vivo to enable the patients to fight off the infection. HIVs primary target it T cells, which are part of the bodys natural immune response.

Todd Allen, a professor of Medicine at Harvard Medical School, said the Dual CAR-T cell immunotherapy has so far provided a strong, long-lasting response against HIV-infection while being resistant to the virus itself.

According to the report, theDual CAR T cell was developed through the engineering of two CARs into a single T cell. Each of the CARs contained a CD4 protein that allowed it to target HIV-infected cells and a costimulatory domain, which signaled the CAR T cell to increase its immune functions. As DTR reported, the first CAR contained the 4-1BB co-stimulatory domain, which stimulates cell proliferation and persistence, while the second has the CD28 co-stimulatory domain, which increases its ability to kill infected cells.

To protect the CAR-T cells from HIV, the team added the protein C34-CXCR4, which prevents HIV from attaching to and infecting cells. When that was added, the researchers found in animal models that the treatment was long-lived, replicated in response to HIV infection, killed infected cells effectively and was partially resistant to HIV infection.

Still, other researchers are looking to those rare individuals who are infected with HIV but somehow on their own are able to suppress the virus without the need for any treatment. Researchers have sought to replicate what this small percentage of patients can naturally do in other patients who require those daily regimens of medications. Through the sequencing of the genetic material of those rare individuals, researchers made an interesting discovery.

The team discovered large numbers of intact viral sequences in the elite controllers chromosomes. But in this group, the genetic material was restricted to inactive regions, where DNA is not transcribed into RNA to make proteins, MedNewsToday reported.

Now the race is on to determine how this can be replicated and used to treat the nearly 38 million people across the globe who have been diagnosed with HIV.

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New HIV Gene Therapy, CAR-T Treatments Could be on the Horizon for Patients - BioSpace

SAN RAFAEL, Calif., Aug. 20, 2020 /PRNewswire/ --BioMarin Pharmaceutical Inc.(NASDAQ: BMRN) today announced that it has submitted a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for vosoritide, an investigational, once daily injection analog of C-type Natriuretic Peptide (CNP) for children with achondroplasia, the most common form of disproportionate short stature in humans. BioMarin recently announced that the European Medicines Agency (EMA) validated the Company's Marketing Authorization Application (MAA) for vosoritide on Aug. 13, 2020.

"We are grateful to the children and families who have participated in the clinical studies to evaluate the potentially first pharmacological treatment option for children with achondroplasia. We are proud of our team and clinical partners, who have conducted extensive scientific and clinical research to address the underlying cause of the condition," said Hank Fuchs, M.D., President, Global Research and Development at BioMarin. "This is an important step to bring a treatment where none have existed before. We also recognize a broad range of views about treatment options, and we look forward to providing children with achondroplasia and their families a treatment choice with this potential new therapy."

"This regulatory submission is an important scientific and medical milestone for children with achondroplasia and their families," said Julie Hoover-Fong, MD, PhD, FACMG, Professor, McKusick-Nathans Department of Genetic Medicine andDirector, Greenberg Center for Skeletal Dysplasias at Johns Hopkins University and an investigator in the vosoritide clinical program. "The extensive clinical program for vosoritide includes important natural history information, which has contributed to the body of scientific knowledge about achondroplasia and a potential treatment option for patients."

"This regulatory submission brings our community closer to accessing the first therapeutic choice for children and families," said Chandler Crews, Founder of The Chandler Project. "A well-researched drug treatment choice has the potential to be an important resource for the community and to increase our understanding of the scientific underpinnings of achondroplasia."

The Chandler Project is dedicated to the most common form of dwarfism and other congenital abnormalities and is a means for patients and parents of children with achondroplasia to find the correct resources for themselves and their child.

About Achondroplasia

Achondroplasia, the most common form of disproportionate short stature in humans, is characterized by slowing of endochondral ossification, which results in disproportionate short stature and disordered architecture in the long bones, spine, face and base of the skull.This condition is caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), a negative regulator of bone growth. Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs, mid-face hypoplasia, permanent sway of the lower back, spinal stenosis and recurrent ear infections. Some of these complications can result in the need for invasive surgeries such as spinal cord decompression and straightening of bowed legs. In addition, studies show increased mortality at every age.

More than 80% of children with achondroplasia have parents of average stature and have the condition as the result of a spontaneous gene mutation. The worldwide incidence rate of achondroplasia is about one in 25,000 live births. Vosoritide is being tested in children whose growth plates are still "open", typically those under 18 years of age.This is approximately 25% of people with achondroplasia. In the U.S.,Europe,Latin America, theMiddle East, and most ofAsia Pacific, there are currently no licensed medicines for achondroplasia.

About BioMarin

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare and ultra-rare genetic diseases. The Company's portfolio consists of six commercialized products and multiple clinical and pre-clinical product candidates. For additional information, please visitwww.biomarin.com. Information on BioMarin's website is not incorporated by reference into this press release.

Forward Looking Statement

This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc. (BioMarin), including, without limitation, statements about: BioMarin's vosoritide development program generally and specifically about the Company's submission of an NDA for vosoritide to the FDA and the EMA's validation of the MAA for vosoritide, which began onAugust 13, 2020. These forward-looking statements are predictions and involve risks and uncertainties such that actual results may differ materially from these statements. These risks and uncertainties include, among others: our ability to successfully manufacture vosoritide; the content and timing of decisions by the U.S. Food and Drug Administration, the European Commission and other regulatory authorities concerning vosoritide; and those other risks and uncertainties detailed from time to time under the caption "Risk Factors" and elsewhere in the BioMarin's Securities and Exchange Commission (SEC) filings, including, without limitation, BioMarin's Quarterly Report on Form 10-Q for the quarter endedJune 30, 2020, and future SEC filings and reports by BioMarin. BioMarin undertakes no duty or obligation to update any forward-looking statements contained in this press release as a result of new information, future events or changes in its expectations.

BioMarin is a registered trademark of BioMarin Pharmaceutical Inc.

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BioMarin Pharmaceutical Inc.

BioMarin Pharmaceutical Inc.

(415) 455-7558

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BioMarin Submits New Drug Application to US Food and Drug Administration for Vosoritide to Treat Children with Achondroplasia - BioSpace

CHAPEL HILL, N.C., Aug. 20, 2020 /PRNewswire/ -- Columbus Children's Foundation (CCF), a national leading non-profit biotech organization helping children with ultra-rare genetic diseases, announced today that Krystof Bankiewicz, M.D., Ph.D., has been named president and chief executive officer. Bankiewicz will work closely with Executive Director Laura Hameed and CCF's esteemed board of trustee members, the CCF Cures Cabinet, and scientific advisors.

Bankiewicz, founder of multiple biotech companies and tenured professor in the Department of Neurosurgery at The Ohio State University College of Medicine, has been instrumental in the organization's success by developing and delivering multiple life-changing treatments as a CCF founding trustee.

According to CCF Chairman and Chief Science Officer R. Jude Samulski, "Dr. Bankiewicz has been quietly focused on bringing life-saving medicines to children that have shown tremendous therapeutic outcomes. He is a remarkable talent with a sincere focus on using his expertise to change the lives of children with significant unmet medical needs. We're thrilled to see someone with his mindset, expertise, and experience join us in this leadership role. Our organizational mission is aimed at ensuring no children are left behind when science can put cures in reach and Krystof will be a key player in effectuating that mission."

In this new role, Bankiewicz will orchestrate CCF's unique non-profit model for conducting translational research and developing pre-clinical and clinical novel therapeutic programs to advance treatments for children with ultra-rare, and often debilitating, genetic disorders.

"The significant impact Dr. Bankiewicz has had on the field of neuro-restorative medicine and gene therapy raises the Foundation's standing and its ability to accelerate curative solutions will help children around the globe," said Hameed. "Additionally, this innovative approach has the potential to change the market through developing cures while also ensuring equitable and affordable access for treatments. Access to cures without affordability creates tragic equity and access issues and I am thrilled that he has chosen to advance treatments using this innovative model. This approach brings out the best in science and humanity."

"In a world where economics do not add up for large biotech or pharmaceutical organizations to develop genetic medicine for smaller populations of children with ultra-rare conditions, by accelerating these programs in this manner, we can bring the focus needed to give these kids and their families a chance at life," said Bankiewicz. "Achieving the astounding results we are seeing in children who have already been treated and joining the Foundation to expand this impact is one of the most rewarding opportunities of my career. I look forward to doing my part to make a difference in children's lives and advance the ability to impact advancement in gene therapy more broadly."

Recognized in the medical community for groundbreaking accomplishments treating Parkinson's Disease and other conditions affecting the central nervous system, Dr. Bankiewicz pioneered delivery of gene therapeutics directly to the brain to treat neurological disorders. Among his many achievements as an industry and academic leader, he co-founded three companies, invented numerous medical patents and is author to more than 230 peer-reviewed research articles. Bankiewicz is a tenured professor of neurosurgery and Gilbert and Kathryn Mitchell Endowed Chair at The Ohio State University College of Medicine. Prior to that, he served as Kinetics Foundation chair in translational research and tenured professor in residence of neurological surgery and neurology at the University of California San Francisco.

Bankiewicz earned an M.D. from Jagiellonian University in Krakow, Poland, and a Ph.D., D.Sc., from the Institute of Neurology and Psychiatry in Warsaw. He also trained at National Institutes of Health in Bethesda, MD.

About Columbus Children's FoundationFounded in 2017, the Columbus Children's Foundation is a 501(c)3 non-profit in Chapel Hill, N.C. As one of the leading nonprofit biotech organizations, its mission is to help children diagnosed with ultra-rare genetic diseases. The Foundation has a global footprint with a sister Foundation located in Spain. Columbus Children's Foundation is focused on ultra-rare diseases that have lagged behind due to their small populations. Because the pharmaceutical industry tends to focus on more common illnesses with greater commercial potential, ultra-rare diseases are often overlooked, prompting the need for funding from outside the industry and a new model for advancement. The Columbus Children's Foundation also helps ensure that children with such disorders can participate in clinical trials or receive therapy if their families can't afford travel and related costs. For more information, visit the Columbus Children's Foundation or call (612) 437-8836.

Media Contact:Mark Rosenberg[emailprotected](919) 412-7378

SOURCE Columbus Children's Foundation

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Dr. Krystof Bankiewicz--World-Renowned Neurosurgeon and Genetic Medicine Expert--Named President and Chief Executive Officer, Columbus Children's...

MONCTON, New Brunswick--(BUSINESS WIRE)--Organigram Holdings Inc. (NASDAQ: OGI) (TSX: OGI), the parent company of Organigram Inc. (the Company or Organigram), a leading licensed producer of cannabis, is pleased to announce it has partnered with Medical Cannabis by Shoppers(Shoppers) on Phase 2 of Shoppers Pilot Program powered by software partner TruTrace Technologies Inc. (CSE: TTT; OTCQB: TTTSF) (TruTrace).

The program is designed to genetically finger-print all participating cannabis products, tracking them throughout the supply chain, from genome to patient, in order to provide real-time information about the composition of each cannabis product used by Medical Cannabis by Shoppers customers.Organigram will provide cannabis products to Shoppers for use in the tracking program.

Standardized and validated testing of medical cannabis, ensuring consistent quality and efficacy, are critical to the products value as a viable treatment option. Likewise, product information such as strain composition and potency can help healthcare practitioners and patients make more informed and confident decisions about their medical cannabis treatment regimens.

Organigram is proud of our long-standing commitment to our medical cannabis community. From the development of innovative products to the support offered by our patient care team and programs, patients and their needs are at the heart of our medical cannabis business, says Greg Engel, CEO, Organigram. We also recognize how critical consistency is to patients and their healthcare providers so are pleased to partner with Shoppers, providing our products so that they can be followed from raw material to finished product, to offer them important, useable product insights.

Using Trutraces StrainSecure system, the program collects plant testing data and performs genomic verification in plant batches which are then registered in a blockchain-enabled database for intellectual property protection and strain validation. All information gathered from the plants, including their molecular and chemical makeup, can be tracked via the technology.

As jurisdictions around the world have begun to legalize and adopt cannabis as a medical treatment, there has been an influx ofnew breeders and growers and a profusion of new cannabis strains, each with a different representation of at least 500 known metabolites. Subtle changes in the chemical expression of various strains, whether by genetic structure or environmental conditions, may have significant clinical effects on the patients using this treatment option.With so many strains available, and with relatively limitedinformationon strain composition or genetic lineage and their relation to their chemical output, patients havelittleability to control what they aretaking over time.

In the absence of assigned drug identification numbers (DIN)for cannabis products, quantifying the genetics and metabolomics, as well as potency and equivalencies ofcannabis products is of interest to producers, distributors, shippers, government agencies, payers, clinicians and patients.

Maintaining an effective traceability ecosystem about these details throughout the supply chain is a component of providing consistent medicine, says Engel.

Using TruTrace technology, Shoppers has partnered with University Health Network in Toronto (UHN) to launch Medical Cannabis Real World Evidence (MCRWE), a new ground-breaking study on cannabis and health which will track outcomes with TruTrace validated product for the first time in history.

This novel observational study is targeting a minimum of 2,000 patients who will be followed over a 24-week period. Enrolled patients will have access to certain fully verified products on the Medical Cannabis by Shoppers platform, which have been tested for detailed cannabinoid and terpene profiles.More information about the study can be found here.

About Organigram Holdings Inc.

Organigram Holdings Inc. is a NASDAQ Global Select and TSX listed company whose wholly owned subsidiary, Organigram Inc., is a licensed producer of cannabis and cannabis-derived products in Canada.

Organigram is focused on producing high-quality, indoor-grown cannabis for patients and adult recreational consumers in Canada, as well as developing international business partnerships to extend the Company's global footprint. Organigram has also developed a portfolio of legal adult use recreational cannabis brands including The Edison Cannabis Company, AnkrOrganics and Trailblazer. Organigram's facilityis located inMoncton, New Brunswick and the Company is regulated by theCannabis Act and theCannabis Regulations(Canada).

This news release contains forward-looking information. Often, but not always, forward-looking information can be identified by the use of words such as plans, expects, estimates, intends, anticipates, believes or variations of such words and phrases or state that certain actions, events, or results may, could, would, might or will be taken, occur or be achieved. Forward-looking information involves known and unknown risks, uncertainties and other factors that may cause actual results, events, performance or achievements of Organigram to differ materially from current expectations or future results, performance or achievements expressed or implied by the forward-looking information contained in this news release. Risks, uncertainties and other factors involved with forward-looking information could cause actual events, results, performance, prospects and opportunities to differ materially from those expressed or implied by such forward-looking information include factors that change supply quantities; risks associated with international jurisdictions including regulatory risk; receipt of any required permits from Health Canada and other authorities; including general risks related to COVID-19 and risks as disclosed in the Companys most recent annual information form, managements discussion and analysis and other Company documents filed from time to time on SEDAR (see http://www.sedar.com) and filed or furnished to the Securities and Exchange Commission on EDGAR (see http://www.sec.gov). Readers are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. Although the Company believes that the assumptions and factors used in preparing the forward-looking information in this news release are reasonable, undue reliance should not be placed on such information and no assurance can be given that such events will occur in the disclosed time frames or at all. The forward-looking information included in this news release are made as of the date of this news release and the Company disclaims any intention or obligation, except to the extent required by law, to update or revise any forward-looking information, whether as a result of new information, future events or otherwise.

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Organigram Joins Medical Cannabis by Shoppers Inc. and TruTrace in Effort to Track Source and Genetics of Cannabis Used by Medical Patients - Business...

SALT LAKE CITY, Aug. 21, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a global leader in molecular diagnostics and precision medicine, announced today that the American Society of Clinical Oncology (ASCO) has exclusively included Myriads myChoice CDx test in its new recommendations on the use of PARP inhibitors for the treatment and management of certain patients with advanced ovarian cancer. The new recommendations, based on clinical trial results, were published in the Journal of Clinical Oncology.

The guideline, titled PARP Inhibitors in the Management of Ovarian Cancer: ASCO Guideline, where myChoice CDx was the only named commercial companion diagnostic, states that women with ovarian cancer and germline or somatic mutations in BRCA1 or BRCA2 genes and/or genomic instability as determined by Myriad myChoice CDx are recommended by ASCO for PARP inhibitor therapy. The guideline includes myChoice CDx guided management in both newly diagnosed and recurrent ovarian cancer.

We are thrilled to be a part of the rapidly changing landscape in guiding treatment for patients with ovarian cancer. The new ASCO guidelines highlight the large number of recent studies that have gone into improving ovarian cancer patient outcomes, said Thomas Slavin, M.D., FACMG, DABCC, senior vice president of Medical Affairs for Myriad Oncology.

According to the American Cancer Society, ovarian cancer ranks fifth in cancer deaths among women, accounting for more deaths than any other cancer of the female reproductive system. In the United States, it is estimated there will be 21,750 new cases diagnosed and around 13,940 deaths in 2020. A woman's risk of getting ovarian cancer during her lifetime is about one in 78 and the chance of dying from ovarian cancer is about one in 108.

About Myriad myChoice CDx Myriad's myChoice CDx is the most comprehensive homologous recombination deficiency test, enabling physicians to identify patients with tumors that have lost the ability to repair double-stranded DNA breaks, resulting in increased susceptibility to DNA-damaging drugs such as platinum drugs or PARP inhibitors. The myChoice CDx test comprises tumor sequencing of the BRCA1 and BRCA2 genes and a composite of three proprietary technologies (loss of heterozygosity, telomeric allelic imbalance and large-scale state transitions). For more information, visit: https://myriad-oncology.com/mychoice-cdx/

About Myriad GeneticsMyriad Genetics Inc., is a leading personalized medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on three strategic imperatives: transitioning and expanding its hereditary cancer testing markets, diversifying its product portfolio through the introduction of new products and increasing the revenue contribution from international markets. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements related to the new ASCO guideline titled PARP Inhibitors in the Management of Ovarian Cancer: ASCO Guideline and the Companys myChoice CDx testings place in such guideline; and the Companys strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on our operations and the demand for our products and services; our ability to efficiently and flexibly manage our business amid uncertainties related to COVID-19; the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decisions in Mayo Collab. Servs. v. Prometheus Labs., Inc., 566 U.S. 66 (2012), Assn for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), and Alice Corp. v. CLS Bank Intl, 573 U.S. 208 (2014); risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2020, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

Media Contact:Jared Maxwell(801) 505-5027jmaxwell@myriad.com

Investor Contact:Scott Gleason(801) 584-1143sgleason@myriad.com

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American Society of Clinical Oncology Exclusively Cites myChoice CDx in New Recommendations for Patients with Advanced Ovarian Cancer - BioSpace

While pre- and post-test education on genetic testing helped to educate patients, recent study findings may also highlight the way that telemedicine is revolutionizing the space, according to Kelly Morgan, MS, CGC.

In a recent study, presented at the 2020 ASCO Virtual Scientific Program, the BRCA Founder OutReach (BFOR) offered pre-testing online education with posttest engagement of primary care providers, which appeared to be effective in educating both patients and providers alike.

In an interview with CancerNetwork, Morgan, a genetic counselor at Memorial Sloan Kettering Cancer Center, explained how telemedicine is changing the future of genetic testing.

Transcription:

The current focus is going to be continuing to survey our participants and then analyze and report out our findings. These are sort of our first set of early results. But the goal from there is, there's a lot of different ways in which this information can probably be used in terms of next steps.

One of the things I mentioned was the idea of new ways to engage primary care providers. So that's certainly an area of interest. One thing I didn't mention, but it's also kind of along the lines of where we want to go is we were very happy with the recruitment that we achieved, but at the same time, we think this tool could be used even more broadly, potentially. So finding ways to better distribute this information and engage a broader number of participants. And then lastly, the immediate context for this is thinking about how this model may work for population screening in the Ashkenazi Jewish group. But there are ways that we could pivot this to other situations as well. So, whether that be things like testing family members for an unknown mutation, or maybe there are other groups with predominant risk factors where this model could work as well. So, I think that once we better understand the long term medical outcomes of participants, we will be able to continue to think about different ways that we can improve and change the model and then apply it further in this context and others as well.

I think, now more than ever, is a time where there's almost a digital revolution, if you will, and a lot of technology in the forefront. So, from our perspective, our goal is to find a way to leverage technology in the context of medicine and use it for better. So there's always a lot going on in terms of many different ways to access testing direct to consumer testing. And, you know, if and when this sort of convenience can be combined with medicine, I think there's a lot of opportunities for improved patient care through that partnership.

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Kelly Morgan, MS, CGC, the Future of Telemedicine and Genetic Testing - Cancer Network