Category Archives: Gene Medicine

DUBLIN, Dec. 31, 2020 /PRNewswire/ -- The "Cell Therapy Global Market Report 2020-30: COVID-19 Growth and Change" report has been added to ResearchAndMarkets.com's offering.

Cell Therapy Global Market Report 2020-30: COVID 19 Growth and Change provides the strategists, marketers and senior management with the critical information they need to assess the global cell therapy market.

Major players in the cell therapy market are Fibrocell Science Inc., JCR Pharmaceuticals Co. Ltd., PHARMICELL Co. Ltd., Osiris Therapeutics Inc., MEDIPOST, Vericel Corporation, Anterogen Co. Ltd., Kolon TissueGene Inc., Stemedica Cell Technologies Inc. and AlloCure.

The global cell therapy market is expected to decline from $7.31 billion in 2019 to $7.2 billion in 2020 at a compound annual growth rate (CAGR) of -1.54%. The decline is mainly due to the COVID-19 outbreak that has led to restrictive containment measures involving social distancing, remote working, and the closure of industries and other commercial activities resulting in operational challenges. The entire supply chain has been disrupted, impacting the market negatively. The market is then expected to recover and reach $10.0 billion in 2023 at a CAGR of 11.55%.

The cell therapy market consists of sales of cell therapy and related services. Cell therapy (CT) helps repair or replace damaged tissues and cells. A variety of cells are used for the treatment of diseases includes skeletal muscle stem cells, hematopoietic (blood-forming) stem cells (HSC), lymphocytes, mesenchymal stem cells, pancreatic islet cells, and dendritic cells.

North America was the largest region in the cell therapy market in 2019. Asia Pacific is expected to be the fastest-growing region in the forecast period.

The cell therapy market covered in this report is segmented by technique into stem cell therapy; cell vaccine; adoptive cell transfer (ACT); fibroblast cell therapy; chondrocyte cell therapy. It is also segmented by therapy type into allogeneic therapies; autologous therapies, by application into oncology; cardiovascular disease (CVD); orthopedic; wound healing; others.

In August 2019, Bayer AG, a Germany-based pharmaceutical and life sciences company, acquired BlueRock Therapeutics, an engineered cell therapy company, for $1 billion. Through this transaction, Bayer AG will acquire complete BlueRock Therapeutics' CELL+GENE platform, including a broad intellectual property portfolio and associated technology platform including proprietary iPSC technology, gene engineering, and cell differentiation capabilities. BlueRock Therapeutics is a US-based biotechnology company focused on developing engineered cell therapies in the fields of neurology, cardiology, and immunology, using a proprietary induced pluripotent stem cell (iPSC) platform.

The high cost of cell therapy hindered the growth of the cell therapy market. Cell therapies have become a common choice of treatment in recent years as people are looking for the newest treatment options. Although there is a huge increase in demand for cell therapies, they are still very costly to try. Basic joint injections can cost about $1,000 and, based on the condition, more specialized procedures can cost up to $ 100,000. In 2020, the average cost of stem cell therapy can range from $4000 - $8,000 in the USA. Therefore, the high cost of cell therapy restraints the growth of the cell therapy market.

Key players in the market are strategically partnering and collaborating to expand the product portfolio and geographical presence of the company. For instance, in April 2018, Eli Lilly, an American pharmaceutical company entered into a collaboration agreement with Sigilon Therapeutics, a biopharmaceutical company that focused on the discovery and development of living therapeutics to develop cell therapies for type 1 diabetes treatment by using the Afibromer technology platform. Similarly, in September 2018, CRISPR Therapeutics, a biotechnological company that develops transformative medicine using a gene-editing platform for serious diseases, and ViaCyte, a California-based regenerative medicine company, collaborated on the discovery, development, and commercialization of allogeneic stem cell therapy for diabetes treatment.

The rising prevalence of chronic diseases contributed to the growth of the cell therapy market. According to the US Centers for Disease Control and Prevention (CDC), chronic disease is a condition that lasts for one year or more and requires medical attention or limits daily activities or both and includes heart disease, cancer, diabetes, and Parkinson's disease. Stem cells can benefit the patients suffering from spinal cord injuries, type 1 diabetes, Parkinson's disease (PD), heart disease, cancer, and osteoarthritis.

According to Cancer Research UK, in 2018, 17 million cancer cases were added to the existing list, and according to the International Diabetes Federation, in 2019, 463 million were living with diabetes. According to the Parkinson's Foundation, every year, 60,000 Americans are diagnosed with PD, and more than 10 million people are living with PD worldwide. The growing prevalence of chronic diseases increased the demand for cell therapies and contributed to the growth of the market.

Key Topics Covered:

1. Executive Summary

2. Cell Therapy Market Characteristics

3. Cell Therapy Market Size And Growth 3.1. Global Cell Therapy Historic Market, 2015 - 2019, $ Billion 3.1.1. Drivers Of The Market 3.1.2. Restraints On The Market 3.2. Global Cell Therapy Forecast Market, 2019 - 2023F, 2025F, 2030F, $ Billion 3.2.1. Drivers Of The Market 3.2.2. Restraints On the Market

4. Cell Therapy Market Segmentation 4.1. Global Cell Therapy Market, Segmentation By Technique, Historic and Forecast, 2015-2019, 2023F, 2025F, 2030F, $ Billion

4.2. Global Cell Therapy Market, Segmentation By Therapy Type, Historic and Forecast, 2015-2019, 2023F, 2025F, 2030F, $ Billion

4.3. Global Cell Therapy Market, Segmentation By Application, Historic and Forecast, 2015-2019, 2023F, 2025F, 2030F, $ Billion

5. Cell Therapy Market Regional And Country Analysis 5.1. Global Cell Therapy Market, Split By Region, Historic and Forecast, 2015-2019, 2023F, 2025F, 2030F, $ Billion 5.2. Global Cell Therapy Market, Split By Country, Historic and Forecast, 2015-2019, 2023F, 2025F, 2030F, $ Billion

Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/rblnmb

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

Media Contact:

Research and Markets Laura Wood, Senior Manager [emailprotected]

For E.S.T Office Hours Call +1-917-300-0470 For U.S./CAN Toll Free Call +1-800-526-8630 For GMT Office Hours Call +353-1-416-8900

U.S. Fax: 646-607-1907 Fax (outside U.S.): +353-1-481-1716

SOURCE Research and Markets

http://www.researchandmarkets.com

Read more from the original source:
Global Cell Therapy Market Report 2020: Market to Recover in 2023 - PRNewswire

Dec. 28, 2020 13:04 UTC

BOSTON--(BUSINESS WIRE)-- Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced its New Drug Submission for TRIKAFTA, Vertexs investigational triple combination medicine, has been accepted for Priority Review by Health Canada for the treatment of cystic fibrosis (CF) in people ages 12 years and older.

We are pleased this submission has been accepted for Priority Review by Health Canada, and we anticipate this accelerated review process will enable access for patients as early as possible, said Carmen Bozic, M.D., Executive Vice President, Global Medicines Development and Medical Affairs, and Chief Medical Officer at Vertex.

With Priority Review, the conventional review timeline of 300 days is reduced to 180 days. The expected approval target by Health Canada is in the first half of 2021.

About Cystic Fibrosis

Cystic fibrosis (CF) is a rare, life-shortening genetic disease affecting approximately 75,000 people worldwide. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes one from each parent to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create medicines for people with serious diseases. The company has multiple approved medicines that treat cystic fibrosis (CF) a rare, life- threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 11 consecutive years on Science magazine's Top Employers list and a best place to work for LGBTQ equality by the Human Rights Campaign. For company updates and to learn more about Vertexs history of innovation, visit http://www.vrtx.com or follow us on Facebook, Twitter, LinkedIn, YouTube and Instagram.

Special Note Regarding Forward-Looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, statements made by Carmen Bozic in this press release, including expectations for patient access to our medicine, and statements regarding the anticipated timing of the expected approval target by Health Canada. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that the New Drug Submission to Health Canada may not be approved in the expected timeline, or at all, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, and other risks listed under the heading Risk Factors in Vertex's most recent annual report and subsequent quarterly reports filed with the Securities and Exchange Commission at http://www.sec.gov and available through the company's website at http://www.vrtx.com. You should not place undue reliance on these statements. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

View source version on businesswire.com: https://www.businesswire.com/news/home/20201228005171/en/

Go here to see the original:
Vertex Announces New Drug Submission for Investigational Triple Combination Medicine for the Treatment of Cystic Fibrosis Has Been Accepted for...

KENILWORTH, N.J.--(BUSINESS WIRE)--AstraZeneca and Merck (NYSE: MRK), known as MSD outside the United States and Canada, today announced that LYNPARZA has been approved in Japan for the treatment of three types of advanced cancer: ovarian, prostate and pancreatic cancer. The three approvals authorize LYNPARZA for use as maintenance treatment after first-line chemotherapy containing bevacizumab (genetical recombination) in patients with homologous recombination repair deficient (HRD) ovarian cancer; the treatment of patients with BRCA gene-mutated (BRCAm) castration-resistant prostate cancer with distant metastasis (mCRPC); and maintenance treatment after platinum-based chemotherapy for patients with BRCAm curatively unresectable pancreas cancer.

The concurrent approvals by the Japanese Ministry of Health, Labor, and Welfare are based on results from the PAOLA-1, PROfound and POLO Phase 3 trials, which each were published in The New England Journal of Medicine.

Dave Fredrickson, executive vice president, oncology business unit, AstraZeneca, said, These three approvals allow patients in Japan to be treated with LYNPARZA, a targeted treatment personalized to their specific biomarkers. They further underline the critical importance of biomarker testing at diagnosis, which helps physicians determine a course of treatment tailored to their individual patients to substantially delay disease progression.

Dr. Roy Baynes, senior vice president and head of global clinical development, chief medical officer, Merck Research Laboratories, said, For patients in Japan diagnosed with each of these types of cancer, there are very few treatment options. Approvals for treatments such as LYNPARZA, the first PARP inhibitor to be approved in these specific types of metastatic castration-resistant prostate cancer and metastatic pancreatic cancer in Japan, enable us to advance this evolving era of personalized medicine and change how these cancers are treated.

LYNPARZA Approved as Maintenance Treatment After First-Line Chemotherapy Containing Bevacizumab (Genetical Recombination) in Patients with HRD-Positive Ovarian Cancer

The approval is based on a biomarker subgroup analysis of the PAOLA-1 Phase 3 trial which showed LYNPARZA, in combination with bevacizumab maintenance treatment, demonstrated a substantial progression-free survival (PFS) improvement versus bevacizumab alone for patients with HRD-positive advanced ovarian cancer.

In 2020, nearly 11,000 women in Japan were diagnosed with ovarian cancer, with more than 5,000 women dying of the disease.

LYNPARZA Approved for the Treatment of BRCAm Castration-Resistant Prostate Cancer with Distant Metastasis

The approval is based on a subgroup analysis of the PROfound Phase 3 trial which showed LYNPARZA demonstrated a substantial improvement in radiographic progression-free survival (rPFS) and overall survival (OS) versus enzalutamide or abiraterone in men with BRCA1/2 mutations. LYNPARZA is the first and only PARP inhibitor approved in Japan in mCRPC.

Prostate cancer is the third most common type of cancer in Japan and in 2020, accounted for over 100,000 new cases.

LYNPARZA Approved as Maintenance Treatment After Platinum-Based Chemotherapy for Patients with BRCAm Curatively Unresectable Pancreas Cancer

The approval is based on the results of the POLO Phase 3 trial which showed LYNPARZA demonstrated a statistically significant and clinically meaningful improvement in PFS versus placebo in patients with gBRCAm metastatic pancreatic cancer. LYNPARZA is the first and only PARP inhibitor approved in Japan in this disease.

Pancreatic cancer has one of the lowest survival rates of the most common cancers and in Japan was responsible for almost 40,000 deaths in 2020 the fourth most common cause of cancer death. Japan has the third-highest rate of pancreatic cancer in the world with 44,000 new cases diagnosed in 2020.

AstraZeneca and Merck are exploring additional trials in advanced prostate cancers including the ongoing PROpel Phase 3 trial testing LYNPARZA as a first-line treatment for patients with mCRPC in combination with abiraterone versus abiraterone alone. Data are anticipated in the second half of 2021. Outside the collaboration, Merck is exploring additional trials in advanced ovarian cancer including the Phase 3 KEYLYNK-001 trial evaluating KEYTRUDA in combination with chemotherapy, followed by maintenance LYNPARZA, for the first-line treatment of women with BRCA non-mutated advanced ovarian cancer.

IMPORTANT SAFETY INFORMATION

CONTRAINDICATIONS

There are no contraindications for LYNPARZA.

WARNINGS AND PRECAUTIONS

Myelodysplastic Syndrome/Acute Myeloid Leukemia (MDS/AML): Occurred in <1.5% of patients exposed to LYNPARZA monotherapy, and the majority of events had a fatal outcome. The duration of therapy in patients who developed secondary MDS/AML varied from <6 months to >2 years. All of these patients had previous chemotherapy with platinum agents and/or other DNA-damaging agents, including radiotherapy, and some also had a history of more than one primary malignancy or of bone marrow dysplasia.

Do not start LYNPARZA until patients have recovered from hematological toxicity caused by previous chemotherapy (Grade 1). Monitor complete blood count for cytopenia at baseline and monthly thereafter for clinically significant changes during treatment. For prolonged hematological toxicities, interrupt LYNPARZA and monitor blood count weekly until recovery.

If the levels have not recovered to Grade 1 or less after 4 weeks, refer the patient to a hematologist for further investigations, including bone marrow analysis and blood sample for cytogenetics. Discontinue LYNPARZA if MDS/AML is confirmed.

Pneumonitis: Occurred in <1% of patients exposed to LYNPARZA, and some cases were fatal. If patients present with new or worsening respiratory symptoms such as dyspnea, cough, and fever, or a radiological abnormality occurs, interrupt LYNPARZA treatment and initiate prompt investigation. Discontinue LYNPARZA if pneumonitis is confirmed and treat patient appropriately.

Embryo-Fetal Toxicity: Based on its mechanism of action and findings in animals, LYNPARZA can cause fetal harm. A pregnancy test is recommended for females of reproductive potential prior to initiating treatment.

Females

Advise females of reproductive potential of the potential risk to a fetus and to use effective contraception during treatment and for 6 months following the last dose.

Males

Advise male patients with female partners of reproductive potential or who are pregnant to use effective contraception during treatment and for 3 months following the last dose of LYNPARZA and to not donate sperm during this time.

Venous Thromboembolic Events: Including pulmonary embolism, occurred in 7% of patients with metastatic castration-resistant prostate cancer who received LYNPARZA plus androgen deprivation therapy (ADT) compared to 3.1% of patients receiving enzalutamide or abiraterone plus ADT in the PROfound study. Patients receiving LYNPARZA and ADT had a 6% incidence of pulmonary embolism compared to 0.8% of patients treated with ADT plus either enzalutamide or abiraterone. Monitor patients for signs and symptoms of venous thrombosis and pulmonary embolism, and treat as medically appropriate, which may include long-term anticoagulation as clinically indicated.

ADVERSE REACTIONSFirst-Line Maintenance BRCAm Advanced Ovarian Cancer

Most common adverse reactions (Grades 1-4) in 10% of patients in clinical trials of LYNPARZA in the first-line maintenance setting for SOLO-1 were: nausea (77%), fatigue (67%), abdominal pain (45%), vomiting (40%), anemia (38%), diarrhea (37%), constipation (28%), upper respiratory tract infection/influenza/ nasopharyngitis/bronchitis (28%), dysgeusia (26%), decreased appetite (20%), dizziness (20%), neutropenia (17%), dyspepsia (17%), dyspnea (15%), leukopenia (13%), UTI (13%), thrombocytopenia (11%), and stomatitis (11%).

Most common laboratory abnormalities (Grades 1-4) in 25% of patients in clinical trials of LYNPARZA in the first-line maintenance setting for SOLO-1 were: decrease in hemoglobin (87%), increase in mean corpuscular volume (87%), decrease in leukocytes (70%), decrease in lymphocytes (67%), decrease in absolute neutrophil count (51%), decrease in platelets (35%), and increase in serum creatinine (34%).

ADVERSE REACTIONSFirst-Line Maintenance Advanced Ovarian Cancer in Combination with Bevacizumab

Most common adverse reactions (Grades 1-4) in 10% of patients treated with LYNPARZA/bevacizumab compared to a 5% frequency for placebo/bevacizumab in the first-line maintenance setting for PAOLA-1 were: nausea (53%), fatigue (including asthenia) (53%), anemia (41%), lymphopenia (24%), vomiting (22%) and leukopenia (18%). In addition, the most common adverse reactions (10%) for patients receiving LYNPARZA/bevacizumab irrespective of the frequency compared with the placebo/bevacizumab arm were: diarrhea (18%), neutropenia (18%), urinary tract infection (15%), and headache (14%).

In addition, venous thromboembolic events occurred more commonly in patients receiving LYNPARZA/bevacizumab (5%) than in those receiving placebo/bevacizumab (1.9%).

Most common laboratory abnormalities (Grades 1-4) in 25% of patients for LYNPARZA in combination with bevacizumab in the first-line maintenance setting for PAOLA-1 were: decrease in hemoglobin (79%), decrease in lymphocytes (63%), increase in serum creatinine (61%), decrease in leukocytes (59%), decrease in absolute neutrophil count (35%), and decrease in platelets (35%).

ADVERSE REACTIONSMaintenance Recurrent Ovarian Cancer

Most common adverse reactions (Grades 1-4) in 20% of patients in clinical trials of LYNPARZA in the maintenance setting for SOLO-2 were: nausea (76%), fatigue (including asthenia) (66%), anemia (44%), vomiting (37%), nasopharyngitis/upper respiratory tract infection (URI)/influenza (36%), diarrhea (33%), arthralgia/myalgia (30%), dysgeusia (27%), headache (26%), decreased appetite (22%), and stomatitis (20%).

Study 19: nausea (71%), fatigue (including asthenia) (63%), vomiting (35%), diarrhea (28%), anemia (23%), respiratory tract infection (22%), constipation (22%), headache (21%), decreased appetite (21%), and dyspepsia (20%).

Most common laboratory abnormalities (Grades 1-4) in 25% of patients in clinical trials of LYNPARZA in the maintenance setting (SOLO-2/Study 19) were: increase in mean corpuscular volume (89%/82%), decrease in hemoglobin (83%/82%), decrease in leukocytes (69%/58%), decrease in lymphocytes (67%/52%), decrease in absolute neutrophil count (51%/47%), increase in serum creatinine (44%/45%), and decrease in platelets (42%/36%).

ADVERSE REACTIONSAdvanced gBRCAm Ovarian Cancer

Most common adverse reactions (Grades 1-4) in 20% of patients in clinical trials of LYNPARZA for advanced gBRCAm ovarian cancer after 3 or more lines of chemotherapy (pooled from 6 studies) were: fatigue/asthenia (66%), nausea (64%), vomiting (43%), anemia (34%), diarrhea (31%), nasopharyngitis/upper respiratory tract infection (URI) (26%), dyspepsia (25%), myalgia (22%), decreased appetite (22%), and arthralgia/musculoskeletal pain (21%).

Most common laboratory abnormalities (Grades 1-4) in 25% of patients in clinical trials of LYNPARZA for advanced gBRCAm ovarian cancer (pooled from 6 studies) were: decrease in hemoglobin (90%), mean corpuscular volume elevation (57%), decrease in lymphocytes (56%), increase in serum creatinine (30%), decrease in platelets (30%), and decrease in absolute neutrophil count (25%).

ADVERSE REACTIONSgBRCAm, HER2-negative Metastatic Breast Cancer

Most common adverse reactions (Grades 1-4) in 20% of patients in OlympiAD were: nausea (58%), anemia (40%), fatigue (including asthenia) (37%), vomiting (30%), neutropenia (27%), respiratory tract infection (27%), leukopenia (25%), diarrhea (21%), and headache (20%).

Most common laboratory abnormalities (Grades 1-4) in >25% of patients in OlympiAD were: decrease in hemoglobin (82%), decrease in lymphocytes (73%), decrease in leukocytes (71%), increase in mean corpuscular volume (71%), decrease in absolute neutrophil count (46%), and decrease in platelets (33%).

ADVERSE REACTIONSFirst-Line Maintenance gBRCAm Metastatic Pancreatic Adenocarcinoma

Most common adverse reactions (Grades 1-4) in 10% of patients in clinical trials of LYNPARZA in the first-line maintenance setting for POLO were: fatigue (60%), nausea (45%), abdominal pain (34%), diarrhea (29%), anemia (27%), decreased appetite (25%), constipation (23%), vomiting (20%), back pain (19%), arthralgia (15%), rash (15%), thrombocytopenia (14%), dyspnea (13%), neutropenia (12%), nasopharyngitis (12%), dysgeusia (11%), and stomatitis (10%).

Most common laboratory abnormalities (Grades 1-4) in 25% of patients in clinical trials of LYNPARZA in the first-line maintenance setting for POLO were: increase in serum creatinine (99%), decrease in hemoglobin (86%), increase in mean corpuscular volume (71%), decrease in lymphocytes (61%), decrease in platelets (56%), decrease in leukocytes (50%), and decrease in absolute neutrophil count (25%).

ADVERSE REACTIONSHRR Gene-mutated Metastatic Castration Resistant Prostate Cancer

Most common adverse reactions (Grades 1-4) in 10% of patients in clinical trials of LYNPARZA for PROfound were: anemia (46%), fatigue (including asthenia) (41%), nausea (41%), decreased appetite (30%), diarrhea (21%), vomiting (18%), thrombocytopenia (12%), cough (11%), and dyspnea (10%).

Most common laboratory abnormalities (Grades 1-4) in 25% of patients in clinical trials of LYNPARZA for PROfound were: decrease in hemoglobin (98%), decrease in lymphocytes (62%), decrease in leukocytes (53%), and decrease in absolute neutrophil count (34%).

DRUG INTERACTIONS

Anticancer Agents: Clinical studies of LYNPARZA with other myelosuppressive anticancer agents, including DNA-damaging agents, indicate a potentiation and prolongation of myelosuppressive toxicity.

CYP3A Inhibitors: Avoid coadministration of strong or moderate CYP3A inhibitors when using LYNPARZA. If a strong or moderate CYP3A inhibitor must be coadministered, reduce the dose of LYNPARZA. Advise patients to avoid grapefruit, grapefruit juice, Seville oranges, and Seville orange juice during LYNPARZA treatment.

CYP3A Inducers: Avoid coadministration of strong or moderate CYP3A inducers when using LYNPARZA.

USE IN SPECIFIC POPULATIONS

Lactation: No data are available regarding the presence of olaparib in human milk, its effects on the breastfed infant or on milk production. Because of the potential for serious adverse reactions in the breastfed infant, advise a lactating woman not to breastfeed during treatment with LYNPARZA and for 1 month after receiving the final dose.

Pediatric Use: The safety and efficacy of LYNPARZA have not been established in pediatric patients.

Hepatic Impairment: No adjustment to the starting dose is required in patients with mild or moderate hepatic impairment (Child-Pugh classification A and B). There are no data in patients with severe hepatic impairment (Child-Pugh classification C).

Renal Impairment: No dosage modification is recommended in patients with mild renal impairment (CLcr 51-80 mL/min estimated by Cockcroft-Gault). In patients with moderate renal impairment (CLcr 31-50 mL/min), reduce the dose of LYNPARZA to 200 mg twice daily. There are no data in patients with severe renal impairment or end-stage renal disease (CLcr 30 mL/min).

INDICATIONS in the US

LYNPARZA is a poly (ADP-ribose) polymerase (PARP) inhibitor indicated:

First-Line Maintenance BRCAm Advanced Ovarian Cancer

For the maintenance treatment of adult patients with deleterious or suspected deleterious germline or somatic BRCA-mutated (gBRCAm or sBRCAm) advanced epithelial ovarian, fallopian tube or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy. Select patients for therapy based on an FDA-approved companion diagnostic for LYNPARZA.

First-Line Maintenance HRD Positive Advanced Ovarian Cancer in Combination with Bevacizumab

In combination with bevacizumab for the maintenance treatment of adult patients with advanced epithelial ovarian, fallopian tube or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy and whose cancer is associated with homologous recombination deficiency (HRD) positive status defined by either:

Select patients for therapy based on an FDA-approved companion diagnostic for LYNPARZA.

Maintenance Recurrent Ovarian Cancer

For the maintenance treatment of adult patients with recurrent epithelial ovarian, fallopian tube or primary peritoneal cancer, who are in complete or partial response to platinum-based chemotherapy.

Advanced gBRCAm Ovarian Cancer

For the treatment of adult patients with deleterious or suspected deleterious germline BRCA-mutated (gBRCAm) advanced ovarian cancer who have been treated with 3 or more prior lines of chemotherapy. Select patients for therapy based on an FDA-approved companion diagnostic for LYNPARZA.

gBRCAm HER2-negative Metastatic Breast Cancer

For the treatment of adult patients with deleterious or suspected deleterious gBRCAm, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer, who have been treated with chemotherapy in the neoadjuvant, adjuvant or metastatic setting. Patients with hormone receptor (HR)-positive breast cancer should have been treated with a prior endocrine therapy or be considered inappropriate for endocrine therapy. Select patients for therapy based on an FDA-approved companion diagnostic for LYNPARZA.

First-Line Maintenance gBRCAm Metastatic Pancreatic Cancer

For the maintenance treatment of adult patients with deleterious or suspected deleterious gBRCAm metastatic pancreatic adenocarcinoma whose disease has not progressed on at least 16 weeks of a first-line platinum-based chemotherapy regimen. Select patients for therapy based on an FDA-approved companion diagnostic for LYNPARZA.

HRR Gene-mutated Metastatic Castration Resistant Prostate Cancer

For the treatment of adult patients with deleterious or suspected deleterious germline or somatic homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC) who have progressed following prior treatment with enzalutamide or abiraterone. Select patients for therapy based on an FDA-approved companion diagnostic for LYNPARZA.

Please click here for complete Prescribing Information, including Patient Information (Medication Guide).

About PAOLA-1

PAOLA-1 is a double-blind Phase 3 trial testing the efficacy and safety of LYNPARZAadded to standard-of-care bevacizumab versus bevacizumab alone, as a first-line maintenance treatment for newly diagnosed advanced (FIGO stages III and IV) high-grade serous or endometroid ovarian, fallopian tube or peritoneal cancer patients who had a complete or partial response to first-line treatment with platinum-based chemotherapy and bevacizumab.

The PAOLA-1 Phase 3 trial showed that LYNPARZA, in combination with bevacizumab maintenance treatment, reduced the risk of disease progression or death by 67% (HR 0.33 [95% CI, 0.25-0.45]) in patients with HRD-positive advanced ovarian cancer. The addition of LYNPARZA improved PFS to a median of 37.2 months vs. 17.7 months with bevacizumab alone.

The most common adverse reactions (ARs) 10% in the overall trial population for PAOLA-1 when treated with LYNPARZA in combination with bevacizumab (N=535) and at a 5% frequency compared to bevacizumab alone (N=267) were fatigue (53% vs. 32%), nausea (53% vs. 22%), anemia (41% vs. 10%), lymphopenia (24% vs. 9%), vomiting (22% vs. 11%) and leukopenia (18% vs. 10%). Grade 3 or above ARs were anemia (17% vs. <1%), lymphopenia (7% vs. 1%), fatigue (5% vs. 2%), nausea (2% vs. 1%), leukopenia (2% vs. 2%) and vomiting (2% vs. 2%). Additional ARs that occurred in 10% of patients receiving LYNPARZA in combination with bevacizumab irrespective of the frequency compared to bevacizumab alone were diarrhea (18%), neutropenia (18%), urinary tract infection (15%) and headache (14%). Fatal ARs occurred in one patient due to concurrent pneumonia and aplastic anemia. Serious ARs occurred in 31% of patients who received LYNPARZA in combination with bevacizumab. Serious ARs in >5% of patients included hypertension (19%) and anemia (17%).

In addition, venous thromboembolic events occurred more commonly in patients receiving LYNPARZA in combination with bevacizumab (5%) than in those receiving bevacizumab alone (1.9%). ARs led to dose interruption in 54% of patients on LYNPARZA in combination with bevacizumab, while 41% of patients on LYNPARZA in combination with bevacizumab had a dose reduction. Discontinuation of treatment due to ARs occurred in 20% of patients on LYNPARZA in combination with bevacizumab.

About PROfound

PROfound is a prospective, multi-center, randomized, open-label Phase 3 trial testing the efficacy and safety of LYNPARZA versus enzalutamide or abiraterone in patients with mCRPC who have progressed on prior treatment with a new hormonal anticancer treatment and have a qualifying tumor mutation in BRCA1/2, ATM or one of 12 other genes involved in the HRR pathway.

The trial was designed to analyze patients with HRR-mutated genes in two cohorts: the primary endpoint was in those with mutations in BRCA1/2 or ATM genes and then, if LYNPARZA showed clinical benefit, a formal analysis was performed of the overall trial population of patients with HRR-mutated genes.

The subgroup analysis from the PROfound Phase 3 trial showed LYNPARZA reduced the risk of disease progression or death by 78% (HR 0.22 [95% CI, 0.15-0.32], nominal p<0.0001) and improved rPFS to a median of 9.8 months vs. 3.0 months with enzalutamide or abiraterone in men with mCRPC with BRCA1/2 mutations. LYNPARZA reduced the risk of death by 37% (HR 0.63 [95% CI 0.42-0.95]) with median OS of 20.1 months vs. 14.4 months with enzalutamide or abiraterone. The OS results from the PROfound Phase 3 trial were published in The New England Journal of Medicine earlier this year.

The most common ARs in the PROfound trial, occurring in 10% of subjects, for LYNPARZA compared to enzalutamide or abiraterone were anemia (46% vs.15%), nausea (41% vs. 19%), fatigue (including asthenia) (41% vs. 32%), decreased appetite (30% vs. 18%), diarrhea (21% vs. 7%), vomiting (18% vs. 12%), thrombocytopenia (12% vs. 3%), cough (11% vs. 2%) and dyspnea (10% vs. 3%). Dose interruptions due to an AR occurred in 45% of patients receiving LYNPARZA and dose reductions due to an AR occurred in 22% of LYNPARZA patients. Discontinuation due to ARs occurred in 18% of LYNPARZA patients.

About POLO

POLO is a randomized, double-blinded, placebo-controlled, multi-center trial of LYNPARZA tablets (300 mg twice daily) as maintenance monotherapy versus placebo. The trial randomized 154 patients with gBRCAm metastatic pancreatic cancer whose disease had not progressed on first-line platinum-based chemotherapy. Patients were randomized (3:2) to receive LYNPARZA or placebo until disease progression. The primary endpoint was PFS and key secondary endpoints included OS, time to second disease progression, overall response rate and health-related quality of life.

Data from the Phase 3 POLO trial showed LYNPARZA nearly doubled the time patients with gBRCAm metastatic pancreatic cancer lived without disease progression or death to a median of 7.4 months vs. 3.8 months on placebo and reduced the risk of disease progression or death by 47% (HR 0.53 [95% CI, 0.35-0.82], p=0.0035).

The most common ARs 10% were fatigue/asthenia (60%), nausea (45%), abdominal pain (34%), diarrhea (29%), anemia (27%), decreased appetite (25%), constipation (23%), vomiting (20%), back pain (19%), arthralgia (15%), rash (15%), thrombocytopenia (14%), dyspnea (13%), neutropenia (12%), nasopharyngitis (12%), dysgeusia (11%), and stomatitis (10%). The most common grade 3 ARs were anemia (11%), fatigue/asthenia (5%), decreased appetite (3%), abdominal pain (2%), vomiting (1%) and arthralgia (1%). Among patients taking LYNPARZA, dose interruptions due to an AR of any grade occurred in 35% and dose reductions due to an AR occurred in 17%. Discontinuation due to ARs occurred in 6% of patients receiving LYNPARZA.

About LYNPARZA (olaparib)

LYNPARZA is a first-in-class PARP inhibitor and the first targeted treatment to potentially exploit DNA damage response (DDR) pathway deficiencies, such as BRCA mutations, to preferentially kill cancer cells. Inhibition of PARP with LYNPARZA leads to the trapping of PARP bound to DNA single-strand breaks, stalling of replication forks, their collapse and the generation of DNA double-strand breaks and cancer cell death. LYNPARZA is being tested in a range of tumor types with defects and dependencies in the DDR.

LYNPARZA, which is being jointly developed and commercialized by AstraZeneca and Merck, has a broad and advanced clinical trial development program, and AstraZeneca and Merck are working together to understand how it may affect multiple PARP-dependent tumors as a monotherapy and in combination across multiple cancer types.

About BRCA Mutations

BRCA1 and BRCA2 (breast cancer susceptibility genes 1/2) are human genes that produce proteins responsible for repairing damaged DNA and play an important role in maintaining the genetic stability of cells. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly, and cells become unstable. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

About Homologous Recombination Deficiency

HRD encompasses a wide range of genetic abnormalities, including BRCA mutations, that can be detected using tests. As the BRCA gene drives DNA repair via homologous recombination, mutation of this gene leads to homologous recombination deficiency thereby interfering with normal cell DNA repair mechanisms. BRCA mutations are just one of many HRDs which confer sensitivity to PARP inhibitors including LYNPARZA.

About the AstraZeneca and Merck Strategic Oncology Collaboration

Read more:
LYNPARZA (olaparib) Receives Three New Approvals in Japan - Business Wire

This week's roundup of some of the latest scientific studies on the coronavirus and efforts to find treatments and vaccines for COVID-19 reveals that a new variant circulating in the U.K. and Europe could spell trouble if its viral load is as high as in collected samples, while stressing that the early production of antibodies may offer a better chance at recovery rather than the amount produced.

U.K. coronavirus variant associated with higher viral loads

The highly infectious COVID-19 coronavirus variant that has been circulating in Britain is linked to higher loads of the virus in swab samples obtained from the nose and the back of the throat, according to a research report published on medRxiv ahead of peer review.

Around 35% of patients infected by the variant form had very high levels of the virus in their samples, compared to 10% of patients without the variant, study leader Michael Kidd of Public Health England and Birmingham University told Reuters. Higher viral loads have been linked with worse COVID-19 outcomes. The tests were conducted at the Birmingham Turnkey Lab.

Kidd said an additional study was needed to confirm or refute the findings. If confirmed, he hopes scientists will investigate how this particular variant manages to make more copies of itself in infected patients.

Early antibody production key to COVID-19 recovery

The speed of patients' antibody production rather than the volume of antibodies they produce to fight the new coronavirus determines whether they will survive COVID-19, new data suggests.

Researchers who studied more than 200 COVID-19 patients, including 179 who were hospitalized, found those who produced so-called neutralizing antibodies within 14 days of developing symptoms eventually recovered, while those who did not produce neutralizing antibodies until more than 14 days had elapsed developed higher viral loads and more severe disease.

"It is unclear why antibodies generated after this time point are unable to promote viral clearance and recovery in COVID-19 patients," the researchers said in a report posted on medRxiv ahead of peer review. Study leader Akiko Iwasaki of the Yale University School of Medicine tweeted on Saturday, "It's possible that virus somehow becomes resistant by hiding in inaccessible tissues."

The new findings, she added, suggest therapy with so-called monoclonal antibody drugs such as those from Regeneron given to U.S. President Donald Trump is likely to work only if used soon after infection.

Masked faces not a complete mystery to children

Young children can sometimes read the emotions of adults who are wearing face masks, according to a new study.

Researchers asked 81 children, aged 7 to 13, to assign one of six emotions to photographs of faces that were either unobstructed, covered by a surgical mask, or wearing sunglasses. The children correctly identified the emotions in 66% of the uncovered faces. When faces were masked, they correctly identified sadness 28% of the time and anger 27% of the time, the researchers reported in PLoS One. Sunglasses made some emotions harder to identify.

"Emotions aren't conveyed solely through your face," coauthor Ashley Ruba of the University of Wisconsin-Madison said in a statement. "Vocal inflections, the way that someone positions their body, and what's going on around them, all that other information helps us make better predictions about what someone is feeling."

Neanderthal gene protects against COVID-19

A specific form of a protein passed down from Neanderthals protects against severe COVID-19, and medications that boost levels of this protein could potentially help treat the disease, according to a study reported on medRxiv ahead of peer review.

The protein, called OAS1, is involved in the body's response to viruses. People with higher levels of the Neanderthal-related form of OAS1 are less susceptible to COVID-19, and if they do become infected, they are at lower risk for hospitalization, intubation and death, the researchers found.

"This protective form of OAS1 is present in sub-Saharan Africans but was lost when the ancestors of modern-day Europeans migrated out of Africa. It was then reintroduced into the European population through mating with Neanderthals" who lived more than 40,000 years ago, said co-author Brent Richards from the Jewish General Hospital and McGill University in Montreal.

An earlier study linked a cluster of genes inherited from Neanderthals to higher risks of hospitalization from COVID-19. "These findings further implicate Neanderthal ancestry in COVID-19 severity," Richards said.

See the original post here:
COVID-19 roundup: Higher viral load in UK variant, early antibodies key to recovery | Daily Sabah - Daily Sabah

Visit the News Hub

Discovery could aid early screening, shed light on how Chiari malformation arises

The lowest part of a child's brain is visible below the bottom of the skull in this MRI scan and shows evidence of a Chiari 1 malformation. Researchers at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes linked to brain development, and that children with large heads are at increased risk of developing the condition.

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition causes headaches, neck pain, hearing, vision and balance disturbances, or other neurological symptoms.

In some cases, the disorder may run in families, but scientists have understood little about the genetic alterations that contribute to the condition. In new research, scientists at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes involved in brain development.

The condition occurs when the lowest parts of the brain are found below the base of the skull. The study also revealed that children with unusually large heads are four times more likely to be diagnosed with Chiari 1 malformation than their peers with normal head circumference.

The findings, published Dec. 21 in the American Journal of Human Genetics, could lead to new ways to identify people at risk of developing Chiari 1 malformation before the most serious symptoms arise. It also sheds light on the development of the common but poorly understood condition.

A lot of times people have recurrent headaches, but they dont realize a Chiari malformation is the cause of their headaches, said senior author Gabriel Haller, PhD, an assistant professor of neurosurgery, of neurology and of genetics. And even if they do, not everyone is willing to have brain surgery to fix it. We need better treatments, and the first step to better treatments is a better understanding of the underlying causes.

If people start experiencing severe symptoms like chronic headaches, pain, abnormal sensations or loss of sensation, or weakness, the malformation is treated with surgery to decompress the Chiari malformation.

Theres an increased risk for Chiari malformations within families, which suggests a genetic underpinning, but nobody had really identified a causal gene, Haller said. We were able to identify two causal genes, and we also discovered that people with Chiari have larger head circumference than expected. Its a significant factor, and easy to measure. If you have a child with an enlarged head, it might be worth checking with your pediatrician.

To identify genes that cause Chiari 1 malformation, Haller and colleagues sequenced all the genes of 668 people with the condition, as well as 232 of their relatives. Of these relatives, 76 also had Chiari 1 malformation and 156 were unaffected. The research team included first author Brooke Sadler, PhD, an instructor in pediatrics, and co-authors David D. Limbrick, Jr., MD, PhD, a professor of neurosurgery and director of the Division of Pediatric Neurosurgery, and Christina Gurnett, MD, PhD, a professor of neurologyand director of the Division of Pediatric and Developmental Neurology, among others.

Sequencing revealed that people with Chiari 1 malformation were significantly more likely to carry mutations in a family of genes known as chromodomain genes. Several of the mutations were de novo, meaning the mutation had occurred in the affected person during fetal development and was not present in his or her relatives. In particular, the chromodomain genes CHD3 and CHD8 included numerous variants associated with the malformation.

Further experiments in tiny, transparent zebrafish showed that the gene CHD8 is involved in regulating brain size. When the researchers inactivated one copy of the fishs chd8 gene, the animals developed unusually large brains, with no change in their overall body size.

Chromodomain genes help control access to long stretches of DNA, thereby regulating expression of whole sets of genes. Since appropriate gene expression is crucial for normal brain development, variations in chromodomain genes have been linked to neurodevelopmental conditions such as autism spectrum disorders, developmental delays, and unusually large or small heads.

Its not well known how chromodomain genes function since they have such a wide scope of activity and they are affecting so many things at once, Haller said. But they are very intriguing candidates for molecular studies, to understand how specific mutations lead to autism or developmental delay or, as in many of our Chiari patients, just to increased brain size without cognitive or intellectual symptoms. Wed like to figure out the effects of each of these mutations so that in the future, if we know a child has a specific mutation, well be able to predict whether that variant is going to have a harmful effect and what kind.

The association between chromodomain genes and head size inspired Haller and colleagues to measure the heads of children with Chiari malformations, comparing them to age-matched controls and to population averages provided by the Centers for Disease Control and Prevention. Children with Chiari tended to have larger than average heads. Those children with the largest heads bigger than 95% of children of the same age were four times more likely to be diagnosed with the malformation.

The findings suggest that children with larger heads or people with other neurodevelopmental disorders linked to chromodomain genes may benefit from screening for Chiari malformation.

A lot of kids that have autism or developmental disorders associated with chromodomain genes may have undiscovered Chiari malformations, Haller said. The only treatment right now is surgery. Discovering the condition early would allow us to watch, knowing the potential for serious symptoms is there, and perform that surgery as soon as its necessary.

Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Burnetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. American Journal of Human Genetics. Dec. 21, 2020. DOI: 10.1016/j.ajhg.2020.12.001

This study was funded by Sam and Betsy Reeves and the Park-Reeves Syringomyelia Research Consortium; the University of Missouri Spinal Cord Injury Research Program; the Childrens Discovery Institute of St. Louis Childrens Hospital and Washington University; the Washington University Institute of Clinical and Translational Sciences, grant number UL1TR000448 from the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH); the Eunice Kennedy Shriver National Institute of Child Health & Human Development, award number U54HD087011 to the Intellectual and Developmental Disabilities Research Center at Washington University; the Swiss National Science Foundation, grant number 31003A_182632; and the Jrme Lejeune Foundation.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

Visit link:
Common brain malformation traced to its genetic roots - Washington University School of Medicine in St. Louis

What happened

CRISPR gene-editing stocks are being hit hard by a broader biotech sell-off on Tuesday. Shares of CRISPR Therapeutics (NASDAQ:CRSP) were down 9.1% as of 12:05 p.m. EST. Editas Medicine (NASDAQ:EDIT) stock had declined 13.7%, while Intellia Therapeutics (NASDAQ:NTLA) shares had slumped 11.4%.

There wasn't a clear reason behind today's rout of biotech stocks. The biggest negative story in the biopharmaceutical industry centered on Arcturus Therapeutics' disappointing early-stage results for its single-dose COVID-19 vaccine candidate.

Image source: Getty Images.

CRISPR Therapeutics, Editas, and Intellia tend to be more volatile than most stocks. None of the companies have products on the market yet. Their valuations are based solely on investors' optimism about their future prospects. When that optimism wanes, the stocks sink.

It's important to keep in mind, though, that nothing has actually changed about the prospects for any of these three gene-editing biotechs. In many ways, those prospects are as strong as they've ever been.

CRISPR Therapeutics and its big partner, Vertex Pharmaceuticals, reported encouraging new data earlier this month for experimental gene-editing therapy CTX001 in treating rare genetic blood disorders beta-thalassemia and sickle cell disease. Editas also announced positive preclinical data for its candidate targeting the same diseases a few weeks ago and filed for U.S. regulatory clearance to begin a phase 1 clinical study in treating sickle cell disease. Intellia presented promising preclinical data in early December for its experimental gene-editing therapies targeting acute myeloid leukemia (AML) and rare genetic disease alpha-1 antitrypsin deficiency.

Each of these stocks is falling today based on no news directly related to their businesses or pipelines. That creates a buying opportunity for investors who remain confident about each company's direction.

What really matters for these three biotechs is the clinical progress for their respective pipeline candidates. And key developments are on the way for all three companies.

CRISPR Therapeutics expects to report additional data from early-stage studies of immuno-oncology candidates CTX110, CTX120, and CTX130 in 2021. Editas hopes to begin a phase 1 study evaluating EDIT-301 in treating sickle cell disease and continue patient enrollment in a phase 1 study of EDIT-101 in treating eye disease Leber congenital amaurosis type 10 (LCA10) in the new year. Intellia anticipates submitting for regulatory clearance to begin early-stage studies of NTLA-5001 in treating AML and for NTLA-2002 in treating hereditary angioedema next year.

Original post:
Why CRISPR Therapeutics, Editas Medicine, and Intellia Therapeutics Stocks Are Sinking Today - The Motley Fool

In 1987, when researchers first used the word genomics to describe the newly developing discipline of mapping DNA, Eric Green had just finished medical school. A few years later, he found himself working on the front lines of the young fields marquee moon shot: the Human Genome Project. To lead the nations participation in the global effort, Congress established the National Human Genomics Research Institute, or NHGRI, in 1989.

Sequencing the entire human genome began the following year, and it took 13 years to complete. Not long after, in 2009, Green took the helm of the research institute. By then, NHGRIs mission had evolved to include expanding the field of genomics into medicine. That meant funding and coordinating projects aimed at pinpointing the mutations responsible for genetic disorders, then developing tests to diagnose them and therapies to treat them. And even more broadly, it meant generating evidence that DNA data could effectively improve outcomes, even for people who dont suffer from rare diseases.

To help chart that course, one of Greens tasks is to periodically put together a strategic vision for the field. Aimed at celebrating progress, identifying technological gaps, and inspiring scientists to pursue the most impactful areas of research, his team published its latest projection in October. For the first time, Green and his colleagues outlined a set of 10 bold predictions about what might be realized in human genomics by the year 2030. Among them: High schoolers will show off genetic analyses at the science fair, and genomic testing at the doctors office will become as routine as basic blood work.

Three decades after that sequencing race began, weve perhaps reached the end of the early genomics era, a period of explosive technological growth that led to breakthroughs like the sequencing of the first dog, chicken, and cancer cells and the advent of cheap home DNA tests. The field has matured to the point that genomics is nearly ubiquitous in all of biologyfrom fighting invasive giant hornets to brewing better-tasting beer. Genomic medicine is no longer theoretical. But its also not widespread. Although scientists have mapped the human genome, they do not yet completely understand it. Green spoke to WIRED about what the next decade, and the next era in genomics, may have in store. This interview has been edited for length and clarity.

WIRED: October marked the 30th anniversary of the Human Genome Project. When you look around at where we are today, how does it live up to the expectations you had for the impacts the project would make in medicine?

Eric Green: I was inside the Human Genome Project from day one, and I cant stress enough how back then we didnt know what we were doing. We had this big audacious goal of reading out the 3 billion letters of the human instruction book, but we didnt have the technology to do it. We didnt have the methods. We didnt even have a functional internet. There was no playbook. So, as someone who got into this as a young physician, I could sort of imagine that one day genomics might be part of clinical care. But I truly did not think it would happen in my lifetime.

If we go back just 10 years, nobody was really using genomics in health care. We fantasized then about the idea of having a patient in front of us, where we did not know what was wrong with them, and being able to sequence their genome and figure it out. That was a hypothetical in 2011. Now it's routine. At least for people suspected of having a rare genetic disease.

Thats amazing. But also, its still a far cry from some of the hype around what the Human Genome Project was going to accomplish. In his remarks at the White House in 2000, then-NHGRI director Francis Collins said it would likely take 15 or 20 years to see a complete transformation in therapeutic medicine, promising personalized treatments for everything from cancer to mental illness. Obviously, that hasnt exactly come to pass. Why not?

See the rest here:
30 Years Since the Human Genome Project Began, Whats Next? - WIRED

LA JOLLA, Calif.--(BUSINESS WIRE)--DermTech, Inc. (NASDAQ: DMTK) (DermTech), a leader in precision dermatology enabled by a non-invasive skin genomics platform, announced today that Geisinger Health System (Geisinger) has issued a positive medical benefit policy for its Commercial and Medicare Business Segment for the DermTech Pigmented Lesion Assay (PLA).

DermTechs PLA is the first non-invasive gene expression test for the early detection of melanoma. The PLA has a 99% negative predictive value (NPV), meaning there is a less than 1% probability of the PLA missing a melanoma when administered properly.

Per the policy, which closely mirrors the final local coverage determination by the Medicare Administrative Contractor, Palmetto GBA MolDx: Gene expression profiling for cutaneous melanoma utilizing the Pigmented Lesion Assay RNA gene expression test on skin samples obtained via adhesive patches is considered medically necessary when the following criteria are met:

We are thrilled that Geisinger Health System, an organization with a well-known commitment to quality healthcare delivery and innovation, reviewed the clinical dossier and peer-reviewed publication library for the PLA and issued a positive medical benefit policy. Using the PLA will enhance the early detection of melanoma sparing the patient the need for an invasive biopsy, said Dan Visage, Senior Vice President of Payor Access for DermTech.

About DermTech

DermTech is the leading genomics company in dermatology and is creating a new category of medicine, precision dermatology, enabled by our non-invasive skin genomics platform. DermTechs mission is to transform dermatology with our non-invasive skin genomics platform, to democratize access to high quality dermatology care, and to improve the lives of millions. DermTech provides genomic analysis of skin samples collected non-invasively using an adhesive patch rather than a scalpel. DermTech markets and develops products that facilitate the early detection of skin cancers, and is developing products that assess inflammatory diseases and customize drug treatments. For additional information on DermTech, please visit DermTechs investor relations site at: http://www.DermTech.com.

Forward-looking Statements

This press release includes forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. The expectations, estimates, and projections of DermTech may differ from its actual results and consequently, you should not rely on these forward-looking statements as predictions of future events. Words such as expect, estimate, project, budget, forecast, anticipate, intend, plan, may, will, could, should, believes, predicts, potential, continue, and similar expressions are intended to identify such forward-looking statements. These forward-looking statements include, without limitation, expectations with respect to: the performance, patient benefits, cost-effectiveness, commercialization and adoption of DermTechs products, including the Smart Sticker platform, and the market opportunity therefor. These forward-looking statements involve significant risks and uncertainties that could cause the actual results to differ materially from the expected results. Most of these factors are outside of the control of DermTech and are difficult to predict. Factors that may cause such differences include, but are not limited to: (1) the outcome of any legal proceedings that may be instituted against DermTech; (2) DermTechs ability to obtain additional funding to develop and market its products; (3) the existence of favorable or unfavorable clinical guidelines for DermTechs tests; (4) the reimbursement of DermTechs tests by Medicare and private payors; (5) the ability of patients or healthcare providers to obtain coverage of or sufficient reimbursement for DermTechs products; (6) DermTechs ability to grow, manage growth and retain its key employees; (7) changes in applicable laws or regulations; (8) the market adoption and demand for DermTechs products and services together with the possibility that DermTech may be adversely affected by other economic, business, and/or competitive factors; and (9) other risks and uncertainties included in (x) the Risk Factors section of the most recent Quarterly Report on Form 10-Q filed by DermTech with the Securities and Exchange Commission (the SEC), and (y) other documents filed or to be filed by DermTech with the SEC. DermTech cautions that the foregoing list of factors is not exclusive. You should not place undue reliance upon any forward-looking statements, which speak only as of the date made. DermTech does not undertake or accept any obligation or undertaking to release publicly any updates or revisions to any forward-looking statements to reflect any change in its expectations or any change in events, conditions, or circumstances on which any such statement is based.

Read more here:
DermTech Receives Positive Medical Coverage by Geisinger Health System - Business Wire

Rui Peng,1,* Yahui Wang,2,* Likai Mao,3 Fang Fang,4 Han Guan1

1Department of Urology, First Affiliated Hospital of Bengbu Medical College, Bengbu, Peoples Republic of China; 2Department of Urology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Shenshan Central Hospital, Shanwei, Peoples Republic of China; 3Department of Urology, Second Affiliated Hospital of Bengbu Medical College, Bengbu, Peoples Republic of China; 4Department of Immunology, School of Laboratory Medicine, Anhui Provincial Key Laboratory of Infection and Immunity, Bengbu Medical College, Bengbu, Peoples Republic of China

*These authors contributed equally to this work

Correspondence: Han GuanDepartment of Urology, First Affiliated Hospital of Bengbu Medical College, No. 87 Zhihuai Road, Longzhihu District, Bengbu, Anhui 233000, Peoples Republic of ChinaTel +86 138 5522 8689Email gh668689@126.com

Introduction: Renal cell carcinoma (RCC) is one of the most common malignancies globally, among which clear cell carcinoma (ccRCC) accounts for 85 90% of all pathological types. This study aims to screen out potential genes in metastatic ccRCC so as to provide novel insights for ccRCC treatment.Methods: GSE53757 and GSE84546 datasets in the Gene Expression Omnibus (GEO) were profiled to identify differentially expressed genes (DEGs) from ccRCC samples with or without metastasis. The Kyoto Encyclopedia of Genes and Genomes (KEGG) and the gene ontology (GO) analysis were performed to analyze pathway enrichment and functional annotation of DEGs. Proteinprotein interaction (PPI) network was constructed, and survival analysis was conducted to evaluate the clinical values of the identified hub genes. In vitro loss-of-function assays were performed to explore the biological roles of these genes.Results: The bioinformatic analysis indicated that 312 DEGs were identified, including 148 upregulated genes and 164 downregulated ones. Using PPI and Cytoscape, 10 hub genes were selected (C3, CXCR4, CCl4, ACKR3, KIF20A, CCNB2, CDCA8, CCL28, S1PR5, and CCL20) from DEGs which might be closely related with ccRCC metastasis. In KaplanMeier analysis, three potential prognostic biomarkers (KIF20A, CCNB2 and CDCA8) were identified. Finally, cell proliferative and invasive assays further verified that KIF20A, CCNB2 and CDCA8 were associated with the proliferation and invasion of ccRCC cells.Conclusion: Our results demonstrated that metastatic ccRCC was partially attributed to the aberrant expression of KIF20A, CCNB2 and CDCA8, and more personalized therapeutic approaches should be explored targeting these hub genes.

Keywords: clear cell renal cell carcinoma, hub genes, biomarkers, metastasis, differentially expressed gene

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

See original here:
Identification of Core Genes Involved in the Metastasis of Clear Cell | CMAR - Dove Medical Press

DALLAS--(BUSINESS WIRE)--Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a patient-centric gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system in both rare and large patient populations, today announced new additions to its leadership team with the appointments of Greg Gara as Senior Vice President of Manufacturing and Kimberly Lee, D.O., as Senior Vice President of Corporate Communications and Investor Relations.

We are excited to welcome Greg and Kim to Tayshas leadership team, said RA Session II, President, Founder and CEO of Taysha. They each bring significant domain experience and their contributions will be invaluable as we continue our mission of eradicating monogenic CNS diseases. Gregs technical expertise in AAV gene therapy manufacturing along with his proven success in constructing several cGMP gene therapy facilities and Kims deep experience across capital markets and corporate communications will add tremendous value to the team. Importantly, both share our unrelenting, patient-first focus and passion for bringing new cures to life.

Mr. Gara has over 25 years of experience in designing, constructing, and starting up large- and small-scale manufacturing facilities for biotechnology companies globally. Prior to joining Taysha, he served as Vice President of Pharmaceutical Engineering at Sarepta, where he led and managed manufacturing operations for all gene therapy products. Before Sarepta, he served as Vice President of Technical Operations and Engineering at AveXis, a Novartis company, where he led the design, construction, and startup of the Libertyville facility and the new facilities in Research Triangle Park and Colorado. Mr. Gara also led the team for the facility expansion in North Carolina and the renovation of the Colorado site. Prior to AveXis, he led the facilities and engineering organization at Hospira prior to the companys acquisition by Pfizer. Before joining Hospira, he spent 15 years at Amgen, holding positions of increasing responsibility, and was part of the Cork, Ireland, construction project. Mr. Gara received a B.A. in Biology and Environmental Science from Augustana College.

Tayshas dedication to the development and commercialization of potentially transformative gene therapy treatments and its innovative and pioneering spirit is truly inspiring and I am excited to contribute in a meaningful way, said Mr. Gara. I look forward to playing an instrumental role in the companys growth and expansion of its manufacturing capabilities.

Dr. Lee joins Taysha with over 20 years of capital markets, strategic corporate finance, and communications experience from prior roles as a biotech equity research analyst on Wall Street and corporate strategy, communications, and investor relations professional. She most recently served as Head of Corporate Strategy and Investor Relations at Lexicon Pharmaceuticals and previously as Vice President of Corporate Strategy, Corporate Communications and Investor Relations at Raptor Pharmaceuticals until its acquisition by Horizon Pharma. Prior to joining Raptor, Dr. Lee was a biotechnology sell-side analyst at investment banks, including Jefferies and Wedbush Securities, covering biotechnology companies across all market capitalizations, multiple therapeutic areas, and modalities. Dr. Lee received a B.S. in Biological Sciences from Stanford University and a D.O. from Kirksville College of Osteopathic Medicine.

In less than one year, Taysha has made extraordinary progress in developing and funding its elegant platform and rapidly advancing its product candidates for the betterment of patients and I am thrilled and grateful to be a part of this journey, said Dr. Lee. I am eager to learn from and work alongside this team of gene therapy experts at this exciting stage of our companys lifecycle and I look forward to making lasting contributions.

About Taysha Gene Therapies

Taysha Gene Therapies (Nasdaq: TSHA) is on a mission to eradicate monogenic CNS disease. With a singular focus on developing curative medicines, we aim to rapidly translate our treatments from bench to bedside. We have combined our teams proven experience in gene therapy drug development and commercialization with the world-class UT Southwestern Gene Therapy Program to build an extensive, AAV gene therapy pipeline focused on both rare and large-market indications. Together, we leverage our fully integrated platforman engine for potential new cureswith a goal of dramatically improving patients lives. More information is available at http://www.tayshagtx.com.

See the original post here:
Taysha Gene Therapies Expands Leadership Team to Deepen Manufacturing and Communications Capabilities - Business Wire