StemCell Therapy

DUBLIN--(BUSINESS WIRE)--The "Relapsed or Refractory Mycosis Fungoides (MF) and Szary Syndrome (SS) - Pipeline Insight, 2020" drug pipelines has been added to ResearchAndMarkets.com's offering.

This report outlays comprehensive insights of present clinical development scenario and growth prospects across the Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) market. A detailed picture of the Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) pipeline landscape is provided, which includes the disease overview and Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) treatment guidelines.

The assessment part of the report embraces in-depth Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) commercial assessment and clinical assessment of the Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) pipeline products from the pre-clinical developmental phase to the marketed phase.

In the report, a detailed description of the drug is proffered including mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) collaborations, licensing, mergers and acquisition, funding, designations, and other product-related details.

The report provides insights into:

Scope of the Report

Key Topics Covered

1. Report Introduction

2. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS)

2.1. Overview

2.2. History

2.3. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Symptoms

2.4. Causes

2.5.Pathophysiology

2.6. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Diagnosis

2.6.1. Diagnostic Guidelines

3. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Current Treatment Patterns

3.1. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Treatment Guidelines

4. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) - Analytical Perspective

4.1. In-depth Commercial Assessment

4.1.1. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) companies collaborations, Licensing, Acquisition - Deal Value Trends

4.1.1.1. Assessment Summary

4.1.2. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Collaboration Deals

4.1.2.1. Company-Company Collaborations (Licensing / Partnering) Analysis

4.1.2.2. Company-University Collaborations (Licensing / Partnering) Analysis

4.1.2.3. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Acquisition Analysis

5. Therapeutic Assessment

5.1. Clinical Assessment of Pipeline Drugs

5.1.1. Assessment by Phase of Development

5.1.2. Assessment by Product Type (Mono / Combination)

5.1.2.1. Assessment by Stage and Product Type

5.1.3. Assessment by Route of Administration

5.1.3.1. Assessment by Stage and Route of Administration

5.1.4. Assessment by Molecule Type

5.1.4.1. Assessment by Stage and Molecule Type

5.1.5. Assessment by MOA

5.1.5.1. Assessment by Stage and MOA

5.1.6. Assessment by Target

5.1.6.1. Assessment by Stage and Target

6. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Late Stage Products (Phase-III)

7. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Mid Stage Products (Phase-II)

8. Early Stage Products (Phase-I)

9. Pre-clinical Products and Discovery Stage Products

10. Inactive Products

11. Dormant Products

12. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Discontinued Products

13. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Product Profiles

13.1. Drug Name: Company

13.1.1. Product Description

13.1.1.1. Product Overview

13.1.1.2. Mechanism of action

13.1.2. Research and Development

13.1.2.1. Clinical Studies

13.1.3. Product Development Activities

13.1.3.1. Collaboration

13.1.3.2. Agreements

13.1.3.3. Acquisition

13.1.3.4. Patent Detail

13.1.4. Tabulated Product Summary

13.1.4.1. General Description Table

14. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Key Companies

15. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Key Products

16. Dormant and Discontinued Products

16.1. Dormant Products

16.1.1. Reasons for being dormant

16.2. Discontinued Products

16.2.1. Reasons for the discontinuation

17. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Unmet Needs

18. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Future Perspectives

19. Relapsed or Refractory Mycosis Fungoides (MF) AND Szary Syndrome (SS) Analyst Review

20. Appendix

21. Report Methodology

21.1. Secondary Research

21.2. Expert Panel Validation

Companies Mentioned

For more information about this drug pipelines report visit https://www.researchandmarkets.com/r/nfdd1l

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Relapsed or Refractory Mycosis Fungoides (MF) and Sezary Syndrome (SS) - Global Industry Assessment and Pipeline Insights, 2020 -...

Earlier this year in collaboration with Cambridge University Press, we launched a new open-access scientific journal, aimed at providing an interdisciplinary forum for high quality research on ground-breaking discoveries and predictions in quantitative plant science.

The journal, Quantitative Plant Biology aims to publish papers that enhance our quantitative understanding of how plants function from a physiological and evolutionary perspective.

We asked Editor-in-Chief Dr Olivier Hamant his thoughts on why this new journal is important and how taking a quantitative approach can generate interesting questions and answer them accurately.

Science, is based around finding answers to questions.

First you have to identify what question to ask. Then, when you have a question, you need to develop a strategy around how to answer it.

As scientists, we tend to spend a lot of time on the strategy and less time on finding the right questions to ask.

So, the first question to ask is, what makes a good question?

Often a good question is a simple question. So, what makes a simple question?

A simple question is one that;

Examples of this can be found throughout scientific history, for example when Gregor Mendel asked the simple question; how does heredity work? His attempts to answer this question opened up the new research area; genetics.

Within the broad field of genetics, in my own research we ask the question; how do genes relate to shape? To answer that question, we needed to think outside the discipline, adding mechanics, physics and mathematics. By doing so, we see how genes and proteins are affecting the mechanics of the cells, in turn affecting the shape of the cells and the tissues. In turn, a shape can then affect the gene, through mechanical forces, but also through biochemistry. Altogether, this created a new field of research that some call morphodynamics.

This is what the new journal Quantitative Plant Biology is all about; taking simple questions and trying to address them by formalising an answer. The mathematical formalisation is really important to getting to the bottom of the question and this is what the journal is about.

This is very timely, because we are generating a lot of data at the moment, be it bioimaging, omics, or virtual data we have a lot of data but we need to make sense of it. The quantitative approach is one way to do it.

Finally, you start with a simple question and from that many other questions emerge. By adopting a quantitative approach, we can;

Our brains, as any optical illusion demonstrates, are limited and, as many studies have shown, we are subject to several cognitive biases. This can be problematic as scientists, because we are analysing our data through the lens of our biases.

For example, we are innately conservative and it is easier to stick to what we know than try something new. It is therefore hard to go against established dogma. As Max Planck said; A new scientific truth does not triumph by convincing its opponents and making them see the light, but rather because its opponents eventually die and a new generation grows up that are familiar with it.

Similarly, as humans we struggle with thinking about systems and understanding feedback. For example, take the Cathy Freeway in Houston, Texas, which suffered from heavy traffic jams. Human intuition suggests that if you want to solve the simple question of a traffic jam, you can add another lane to the road and that will alleviate the congestion. However, if you add more lanes, what you actually do is make the road more attractive, meaning more traffic uses them and the jams get worse. This is known as the Braess Paradox. Unable to learn this lesson, planners continued to add lanes to try and relieve the increasing jams and currently the Cathy Freeway has 26 lanes and the jams are as bad as ever.

We can apply the Braess Paradox to food security. A simple solution to food security would be to increase food production. However, there is increasing evidence that if you increase production, you increase the problems associated with distribution and in-turn all you ultimately produce is more food waste.

The quantitative approach provides a way to go around these biases, because it allows us to address the questions in an unbiased way, by trusting the data.

Quantitative approaches also allow us to maximise the output of another revolution; the rise of citizen science, which allows us to dramatically increase our sample sizes and can see huge heterogenous datasets generated from all over the world.

That is why I am really excited to be part of this new Quantitative Plant Biology journal. I really believe it will stimulate effort in the plant community, both to formalise answers to questions and to inspire new questions and new fields of research.

Dr Hamant, is an INRAE Director of research at the RDP institute at ENS de Lyon. A biologist by profession, he tries to understand how plants use forces to control their development, by combining molecular and cellular biology, mechanics and modelling approaches.

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How to know what questions to ask; taking an quantitative approach - The John Innes Centre

Dana-Farber Patient Recovering Well After Cancer and the Coronavirus

Pam Dobay is a warrior. In the last three years, the 67-year-old has dealt with a cancer diagnosis and stem cell transplant before recently contracting the coronavirus.

None of it was easy, but today, Dobay is recovering at home. She says she cannot begin to express the gratitude she feels towards everyone who has cared for her, including her Dana-Farber care team and her family.

When this is all over, I want to show everyone at Dana-Farber what they did, and thank them for everything, says Dobay.

A Blood Cancer Diagnosis

In February 2018, Dobay was diagnosed with myelofibrosis, a blood disorder in which the bone marrow is unable to produce healthy red blood cells. Dobays primary care physician first worried something wasnt right after her test results from routine blood work came back abnormal. Myelofibrosis is a precursor condition for leukemia, meaning it puts those who are diagnosed at a much higher chance of developing the disease.

Dobay, who lives in Holbrook, MA, was placed under the care ofCorey Cutler, MD, MPH, medical director of theAdult Stem Cell Transplantation Programat Dana-Farber/Brigham and Womens Cancer Center. Initially, she was given blood transfusions to help her body compensate for the bone marrows inability to produce red blood cells. This treatment is not designed to be a permanent fix, despite being highly effective for a short period of time: Eventually, Dobay would need a bone marrow transplant.

In September 2018, just six months after her diagnosis, Dobay underwent areduced-intensity transplant(sometimes referred to as a mini-transplant). Mini-transplant patients receive lower doses of chemotherapy than are used in a full-intensity transplant, and in general, receive no radiation therapy. The reduced-intensity procedure was developed for older patients and others who often cant tolerate the harsh side effects of full-intensity treatments.

The procedure still proved to be difficult for Dobay, who ended up in the intensive care unit (ICU) due to complications. This was a possibility her care team had prepared for, and slowly, her condition improved. While she still has some symptoms of chronic graft-versus-host disease (GVHD), she and her family including Robert Dobay, her husband of 45 years hoped this would be her toughest test.

This article was originally published on June 18, 2020, by Dana-Farber Cancer Institute. It is republished with permission.

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Recovering from Cancer, a Stem Cell Transplant and Coronavirus - Cancer Health Treatment News

LOS ANGELES As medical experts learn about the novel coronavirus, which continues to exhibit an array of ever-evolving symptoms and long-term effects, researchers have found that the deadly illness can have deleterious impacts on the heart and brain.

A recent study published on June 25 in the journalCell Reports Medicine, found that while COVID-19 is commonly known as a respiratory illness, the disease has also been known to instigate inflammatory responses in the body which can negatively affect the function of ones heart and brain.

According to the study, researchers observed SARS-CoV-2 infecting human heart cells that were grown from stem cells in a lab. Within 72 hours of infection, the virus managed to spread and replicate, killing the heart cells.

The researchers brought up the particularly alarming possibility that if COVID-19 can infect the heart cells in a laboratory setting, it could possibly infect those specific organs, prompting the need for a cardiac-specific antiviral drug screen program.

And those concerns are not unwarranted, according to doctors and other researchers who have been observing and studying the wide range of health problems and negative outcomes that appear to come with the not-yet-fully-known territory of the novel virus.

The most common coronavirus symptoms are fever, a dry cough and shortness of breath and some people are contagious despite never experiencing symptoms. But as the virus continues to spread, less common symptoms are being reported, including loss of smell, vomiting and diarrhea, along with a variety of skin problems and harmful neurological effects.

A recentreportfromDr. Robert Stevens, M.D., the associate director of the Johns Hopkins Precision Medicine Center of Excellence for Neurocritical Care, said that coronavirus patients are continuously experiencing a wide range of disconcerting effects on the brain.

Some of the neural symptoms, according to Johns Hopkins, include:

Patients are also having peripheral nerve issues, such as Guillain-Barr syndrome, which can lead to paralysis and respiratory failure, wrote Stevens. I estimate that at least half of the patients Im seeing in the COVID-19 units have neurological symptoms.

While medical experts have continuously repeated that more is still being discovered about the virus, Stevens listed some possibilities on how COVID-19, a respiratory illness, is making its way to the brain.

The first possible way is that the virus may have the capacity to enter the brain and cause a severe and sudden infection. Cases reported in China and Japan found the viruss genetic material in spinal fluid, and a case in Florida found viral particles in brain cells, Stevens wrote.

He added that viral particles in the brain and spine may occur when the virus enters the body through a patients bloodstream or nerve endings.

The second possibility is that the bodys immune system has an overreaction to the virus, causing severe inflammatory responses that cause organ and tissue damage.

The third theory is the erratic physiological changes the disease causes in the body, which involve extremely high fever and low oxygen levels in the blood, result in harmful effects to the brain.

Stevens added that there has been an abnormal observance of blood clotting that has caused some coronavirus patients to suffer strokes. A stroke could occur if a blood clot were to block or narrow arteries leading to the brain, he said.

Another illness that has been known to impact the brain in patients with COVID-19 is currently being studied by Dr. Mady Hornig, an immunologist and professor of epidemiology at Columbia University.

Hornig said that Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is an illness that has been found in patients who have recovered from coronaviruses such as SARS.

TheCenters for Disease Control and Preventioncites a 2015 report from the nations top medical advisory body, the Institute of Medicine, which says that an estimated 836,000 to 2.5 million Americans suffer from ME/CFS.

The CDC says that people with ME/CFS experience severe fatigue, sleep problems, as well as difficulty with thinking and concentrating while experiencing pain and dizziness.

Hornig said SARS-CoV-1 and MERS have been associated with longer-term difficulties, in which many people appeared to have symptoms of ME/CFS.

Hornig is currently researching the long-term effects of COVID-19, and has been confronted with an array of concerning symptoms that have persisted in patients, as well as herself.

She can personally attest to the variety of symptoms that have been reported in coronavirus patients, ever since she began to experience her own COVID-19 symptoms in April that have continued to impact her daily life for the past few months.

She has also experienced cardiac complications while dealing with the illness.

Since getting sick, Hornig said shes had to carry a pulse oximeter with her, a device which registers her pulse since she began to have tachycardia episodes when her fever began to decline. Tachycardia is a condition that can make a persons heart beat abnormally fast, reducing blood flow to the rest of the body,according to the Mayo Clinic.

Hornigs most recent episode was on June 22. Her pulse registered at 135 beats per minute, which she said occurred just from her sitting at her computer. She said a normal pulse for someone her age would be around 60-70 beats per minute.

The findings on the novel virus potential effects on the heart and brain come as the CDC continues to update itslistof coronavirus symptoms and high-risk conditions for COVID-19 complications.

Notably, the CDC also removed the specific age threshold from the older adult classification. CDC now warns that among adults, risk increases steadily as you age, and its not just those over the age of 65 who are at increased risk for severe illness, the agency wrote.

Johns Hopkins has noted that younger patients in their 30s and 40s are reportedly having strokes as a result of COVID-19.

It may have something to do with the hyperactive blood-clotting system in these patients, Stevens said. Another system that is hyper-activated in patients with COVID-19 is the endothelial system, which consists of the cells that form the barrier between blood vessels and body tissue. This system is more biologically active in younger patients, and the combination of hyperactive endothelial and blood-clotting systems puts these patients at a major risk for developing blood clots.

But Stevens cautioned that more conclusive data is needed before the medical community can say with assurance that younger people are particularly susceptible to strokes caused by the novel coronavirus.

It is also plausible that theres an increase in stroke in COVID-19 patients of all ages, Stevens said.

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Its not just the lungs: COVID-19 can affect the brain and heart of those infected, researchers say - WITI FOX 6 Milwaukee

ABU DHABI - The Abu Dhabi Stem Cell Centre (ADSCC) has treated more than 2,000 patients suffering from COVID-19, with 1200 already fully recovered from the effects of the virus, according to state news media agency WAM.

ADSCC announced that it had succeeded in ramping up the number of treatments from the 73 in the initial clinical trial.

The large increase was due to a major effort by staff at the centre to treat as many people as possible following the UAE governments decision to make it available free of charge to all moderate-to-high risk COVID-19 patients in the Gulf state.

The Governments decision came after the treatment, which is branded UAECell19, showed efficacy and an impressive safety profile reflected in the absence of significant changes in adverse events reported, an absence of any unexpected serious reactions (such as anaphylaxis, allergic reactions or sudden death) and an absence of any lung complications as determined by radiological exams from inhalation of the nebulized product.

A team of doctors and researchers at ADSCC, led by Dr Yendry Ventura, announced in May they had developed a new treatment for COVID-19 patients.

UAECell19, an autologous stem cells based therapy, appears to help the body fight the virus and makes the disease less harmful.

Following an initial trial, researchers were able to conclude that UAECell19 reduced the duration of hospitalization from 22 days to just six, when compared to patients who had received standard treatment.

Further analyses revealed that patients treated with the stem cells were 3.1 times more likely to recover in less than seven days than those treated with standard therapy, and 67% of the patients who received the stem cells treatment owed this recovery to the new treatment.

ADSCC has since secured intellectual property rights protection for UAECell19, which opens the way for the treatment to be shared widely so more patients can benefit.

ADSCC said researchers were at various stages of several investigatory efforts to establish effectiveness (Phase 3 trial), optimal efficacy of dosage, and efficacy to treat other respiratory diseases such asthma, COPD, and cystic fibrosis.

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Over 2,000 patients get stem cell treatment for COVID-19 in UAE | MEO - Middle East Online

By: Lifestyle Desk | New Delhi | Updated: June 27, 2020 12:09:31 pm Heres everything to know about the blood disorder. (Source: Getty Images/Thinkstock)

Sickle cell disease (SCD) is an inherited group of blood disorder which is genetic in nature. It is usually transferred from parents to the child during birth i.e. both the parents can be carries of SCD. Healthy RBCs are round in shape, which moves through small blood vessels and carries oxygen to all parts of the body. In someone who has SCD, the RBC becomes sticky and hard and start to look like C- shaped similar to that of a farm tool sickle. The sickle cells die early, which causes a constant shortage of RBC, which leads to low oxygen carriers in the body, mentioned Dr Rahul Bhargava, director and head, haematology and bone marrow transplant, Fortis Memorial Research Institute, Gurugram. Also, when sickle cells travels they tend to get stuck in small blood vessels and restrict the blood flow. This can cause pain in the joints, chest and other serious problems such as stroke, acute chest syndrome and infections.

Anaemia

SCD can lead to shortage of RBC which makes the patient anaemic. It can lead to less oxygen supply in the body causing fatigue.

Episodes of pain. SCD patients suffer from episodes of periodic pain. Sickle-shaped blood cells can block the flow of blood which in tiny vessels of abdomen, chest and joints, thus leading to pain.

Feet and hands swelling

Sickle-shaped RBC can block then flow of blood which can cause swelling in the hands and feet.

Frequent infections

Sickle cells can damage the spleen and make the person vulnerable to diseases and infections. Vaccination is usually prescribed in childhood to keep infections at bay.

Delayed growth or puberty

RBC is the carrier of oxygen and other nutrients. With low RBC, there is no enough oxygen in the body which can slow the growth in infants and children which leads to delayed puberty in children.

Vision problems

Vision is affected when the flow of blood is affected.

SCD can lead to a lot of complication, including Stroke, acute chest syndrome, pulmonary hypertension, organ damage, blindness, leg ulcers and more such complications.

SCD can be diagnosed with a simple blood test. Parents are advised to get the screening done before conceiving as it is transmitted from parents. For newborns, the test is done in the hospitals as a routine screening. There is no single treatment for SCD patients and it varies from patient to patient on the basis the symptoms. Before starting any medication, consult a haematologist who specialises in blood disorders.

The only cure for SCD is getting a bone marrow transplant (BMT), which is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Stem cells are easily taken from the donor and planted in the recipient. After the BMT procedure, the patient can lead a healthy and normal life.

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Sickle Cell Disease: All you need to know - The Indian Express

Nick Cordero is still recovering from COVID-19 complications and wife Amanda Kloots is asking fans for more of their prayers.

On Tuesday (June 30), the Broadway stars wife, 38, shared a photo of herself smiling with the actor. "Heres hoping for a good week," the fitness trainer captioned the shot. "Prayer warriors please pray that his body gets stronger. Please pray that his Ph levels normalize. Please pray that he can get off blood pressure medicines. I believe in the power of prayer. 'Whatever you ask for in prayer you will receive if you have faith.' - Matthew 21:22."

Fans have remained patient as Kloots shared updates on her husband, who has been been hospitalized at Cedars-Sinai Medical Center in Los Angeles for three months. Not only has Cordero had his leg amputated due to complications from the respiratory virus, but he was placed in a medically-induced coma after surgery and started stem cell treatment to help his recovery. Kloots recently revealed that the star lost 65 pounds due to the condition.

Kloots recently shared another update on Cordero, admitting that he's in a "vicious ICU dance circle." "Nick is doing okay. It's just that he's in this vicious ICU dance circle, where one thing goes right and another thing goes wrong, and the thing that was wrong goes right but the thing that goes right then goes wrong," she said on her Instagram Story. "To me, right now, it's just like, 'How do we get out of this vicious circle this circle of the ICU?'"

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Nick Cordero's Wife Asks Fans To 'Pray That His Body Gets Stronger' - iHeartRadio

Myelofibrosis or osteomyelofibrosis is a myeloproliferative disorder which is characterized by proliferation of abnormal clone of hematopoietic stem cells. Myelofibrosis is a rare type of chronic leukemia which affects the blood forming function of the bone marrow tissue. National Institute of Health (NIH) has listed it as a rare disease as the prevalence of myelofibrosis in UK is as low as 0.5 cases per 100,000 population. The cause of myelofibrosis is the genetic mutation in bone marrow stem cells. The disorder is found to occur mainly in the people of age 50 or more and shows no symptoms at an early stage. The common symptoms associated with myelofibrosis include weakness, fatigue, anemia, splenomegaly (spleen enlargement) and gout. However, the disease progresses very slowly and 10% of the patients eventually develop acute myeloid leukemia. Treatment options for myelofibrosis are mainly to prevent the complications associated with low blood count and splenomegaly.

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The global market for myelofibrosis treatment is expected to grow moderately due to low incidence of a disease. However, increasing incidence of genetic disorders, lifestyle up-gradation and rise in smoking population are the factors which can boost the growth of global myelofibrosis treatment market. The high cost of therapy will the growth of global myelofibrosis treatment market.

The global market for myelofibrosis treatment is segmented on basis of treatment type, end user and geography:

As myelofibrosis is considered as non-curable disease treatment options mainly depend on visible symptoms of a disease. Primary stages of the myelofibrosis are treated with supportive therapies such as chemotherapy and radiation therapy. However, there are serious unmet needs in myelofibrosis treatment market due to lack of disease modifying agents. Approval of JAK1/JAK2 inhibitor Ruxolitinib in 2011 is considered as a breakthrough in myelofibrosis treatment. Stem cell transplantation for the treatment of myelofibrosis also holds tremendous potential for market growth but high cost of therapy is foreseen to limits the growth of the segment.

On the basis of treatment type, the global myelofibrosis treatment market has been segmented into blood transfusion, chemotherapy, androgen therapy and stem cell or bone marrow transplantation. Chemotherapy segment is expected to contribute major share due to easy availability of chemotherapeutic agents. Ruxolitinib is the only chemotherapeutic agent approved by the USFDA specifically for the treatment of myelofibrosis, which will drive the global myelofibrosis treatment market over the forecast period.

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Geographically, global myelofibrosis treatment market is segmented into five regions viz. North America, Latin America, Europe, Asia Pacific and Middle East & Africa. Northe America is anticipated to lead the global myelofibrosis treatment market due to comparatively high prevalence of the disease in the region.

Some of the key market players in the global myelofibrosis treatment market are Incyte Corporation, Novartis AG, Celgene Corporation, Mylan Pharmaceuticals Ulc., Bristol-Myers Squibb Company, Eli Lilly and Company, Taro Pharmaceuticals Inc., AllCells LLC, Lonza Group Ltd., ATCC Inc. and others.

Rustil is a regular contributor to blog , Specializing in Industry Research and Forecast

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COVID 19 to Lead the Sales of Myelofibrosis Treatment to Register Stellar Growth in the Next 10 Years - The Canton Independent Sentinel

Michael Schumacher is still surviving as he continues to battle complications from the near-fatal head injury he sustained while skiing in 2013. It was reported that the F1 legend is set to undergo another round of stem cell procedure that will help regenerate his nervous system.

Facts about the reported new operation on Schumi

With this surgery, his family and doctors are hoping that he will be able to recover functions in parts of his body. This is because it is aimed at his sensory system that was affected by his injuries.

The Daily Mail reported that currently, Michael Schumacher is being treated and cared for by French cardiologist Dr. Philippe Menasche, a medical expert specializing in stem cell research. It was revealed that a series of surgeries are needed for this treatment, so this is just one of the racing champs operations for his recovery.

In an article that appeared in an Italian publication Le Dauphine, it was reported that Dr. Menasche will do seminal heart surgery on Schumi in his next surgery schedule. It was added that this will take place soon, but the exact date was not revealed.

It is also believed that this will be the second time that the said doctor is operating on Michael Schumacher. The first procedure was said to have been done in September 2019, and Schumi was in the hospital for about three days. At any rate, in this operation, his damaged cells will be replaced with healthy ones that will be taken from his bone marrow.

An experimental stem-cell surgery?

Michael Schumacher has not recovered from his accident that happened more than six years ago. He is currently being treated in his own home in Switzerland, but his exact condition is still a mystery since his family continues to keep everything related to his health a secret.

Dr. Nicola Acciari, a leading neurosurgeon, previously claimed that Michael Schumacher has osteoporosis and suffering from muscle atrophy since he is unable to move for years. The goal is to regenerate Michaels nervous system, The Sun quoted him as saying in connection to the stem cell therapy.

However, Jean-Michel Dcugis, a French journalist, shared to British daily national newspaper, The Times, that the procedure is experimental at this point since Dr. Menasche is actually a cardiologist.

"Our sources say that Michael Schumacher is receiving stem cell perfusions that produce a systemic anti-inflammatory effect, The Sun quoted Dcugis as saying. "It's quite mysterious as Menasch works only on the heart. He is carrying out experiments with secretome that is made by a laboratory from new stem cells and injected into veins, until now only on animals.

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Michael Schumacher is reportedly getting another stem-cell surgery; Journalist alleged it will be an experimental procedure - EconoTimes

Washington, July 2 : Anthony Fauci, the top US expert in infectious diseases, has expressed his concern over the sudden spike of COVID-19 cases in the country, warning of the risk of a greater outbreak if the latest surge is not controlled.

We got hit very badly, worse than any country, with regard to the number of cases and the number of deaths, Fauci told the BBC on Wednesday.

The problem were facing now is that in an attempt to so-called reopen or open the government and get it back to some form of normality, were seeing very disturbing spikes in different individual states in the US.

Weve got to get that under control or we risk an even greater outbreak in the US, he added.

As of Thursday, the US accounted for the worlds highest number of infections and fatalities with 2,685,806 and 128,061, respectively, according to the Johns Hopkins University.

Comparing the situation in the US to how some European countries controlled the spread of the virus, Fauci told the BBC: They closed down to the tune of about 97 per cent lockdown. In the US, even in the most strict lockdown, only about 50 per cent of the country locked down. That allowed the perpetuation of the outbreak.

We need to engender some societal responsibility in people, particularly the younger people, he said, adding that young people were less likely to be seriously affected by COVID-19 but could still spread the disease.

Faucis remarks on Wednesday came a day after he told the US Senate that he would not be surprised if new virus cases in the country reach 100,000 per day, the BBC reported.

Clearly we are not in control right now, Fauci testified, warning that not enough Americans are wearing masks or social distancing.

On Tuesday, cases rose by more than 40,000 in one day for the fourth time in the past five days.

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WHO says living with COVID-19 to be new normal as global cases top 10 mln - WeForNews

New York, July 1 : A team of US scientists, led by an Indian-origin researcher revealed that SARS-CoV-2 (coronavirus), the virus behind Covid-19, can infect heart cells in a lab dish.

This suggests it may be possible for heart cells in Covid-19 patients to be directly infected by the virus.

The discovery, published today in the journal Cell Reports Medicine, was made using heart muscle cells that were produced by stem cell technology.

We not only uncovered that these stem cell-derived heart cells are susceptible to infection by a novel coronavirus, but that the virus can also quickly divide within the heart muscle cells, said study researcher Arun Sharma from the Cedars-Sinai Board of Governors Regenerative Medicine Institute in the US.

Even more significant, the infected heart cells showed changes in their ability to beat after 72 hours of infection, Sharma added.Although many COVID-19 patients experience heart problems, the reasons remain unclear. Pre-existing cardiac conditions or inflammation and oxygen deprivation resulting from the infection have all been implicated.

But there has until now been only limited evidence the SARS-CoV-2 virus directly infects the individual muscle cells of the heart.The study also demonstrated human stem cell-derived heart cells infected by SARS-CoV-2 change their gene expression profile.This offers further confirmation the cells can be actively infected by the virus and activate innate cellular defence mechanisms in an effort to help clear-out the virus.

This viral pandemic is predominately defined by respiratory symptoms, but there are also cardiac complications, including arrhythmia, heart failure and viral myocarditis, said study co-author Clive Svendsen.

While this could be the result of massive inflammation in response to the virus, our data suggest that the heart could also be directly affected by the virus in Covid-19, Svendsen added.

Researchers also found that treatment with an ACE2 antibody was able to blunt viral replication on stem cell-derived heart cells, suggesting that the ACE2 receptor could be used by SARS-CoV-2 to enter human heart muscle cells.

By blocking the ACE2 protein with an antibody, the virus is not as easily able to bind to the ACE2 protein, and thus cannot easily enter the cell, said Sharma. This not only helps us understand the mechanisms of how this virus functions, but also suggests therapeutic approaches that could be used as a potential treatment for SARS-CoV-2 infection, he explained.

The study used human induced pluripotent stem cells (iPSCs), a type of stem cell that is created in the lab from a persons blood or skin cells. IPSCs can make any cell type found in the body, each one carrying the DNA of the individual. This work illustrates the power of being able to study human tissue in a dish, the authors wrote.

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Rahul Gandhi to interact with nurses on July 1 - WeForNews

Organoids are paving the way to understanding the effects of Covid-19 on the human body

These are lab-grown mini-organs like kidneys, lungs, livers and brains

This method is considered more ethical than testing on animals, but has its limitations

And no, this isnt like the human cloning you see in movies like The Island.

They are grown from human embryonic stem cells, programmed to organise themselves into whichever organ the scientist needs to experiment with.

They resemble tiny grey blobs, but are an important tool in replicating the pathology of viruses like Covid-19 in order to understand and discover treatments to help fight them.

Three methods of investigation

Various coronavirus studies have been done on lung, kidney, liver and cardiovascular system organoids.

According to a review published in Cell Press, the use of organoids is one of three methods of investigating the effects of a disease on the human body in a lab. The others are using human airway epithelial cells and animal testing.

See how they grow brain organoids below:

Some of the research so far has found invaluable data on Covid-19. Research published in Science on small intestinal organoids found that not only was it a target for the virus, it also was a hot spot for its replication.

Another study from China published in bioRxiv also analysed how receptive lung organoids are to the virus, and tested drugs like imatinib and mycophenolic acid to see if it inhibited the viruss effects. They concluded that organoids would be a powerful tool in faster screening of more treatments not yet ready for human trials.

While organoids better represent human cells, animal testing is sometimes considered more effective as it shows the effect of a virus and treatment across the whole biological system.

Organoids only show how a single organ is affected, and the human body is a system with many parts interacting with each other and not in isolation.

Animals used in Covid-19 studies include transgenic mice, Syrian hamsters, cats, ferrets and macaques. The virus, however, does not seem to replicate itself in ducks, pigs and chickens.

By-product of immune response

Experts, however, told Nature that organoids are much cheaper, produce faster results, and have far fewer ethical complications than testing on animals.

But they also note that its too early to tell if the findings from organoid studies are yet relevant enough, as theres a need for more complex organoids for better results.

It would also be difficult to ascertain whether Covid-19 is causing the damage in these organs, or if the damage is a byproduct of the bodys immune response, like the deadly cytokine storm.

Image credit: Pixabay

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Lab-grown mini-organs reveal the damage inflicted by Covid-19 - Health24

SOUTH SAN FRANCISCO, Calif., July 1, 2020 /PRNewswire/ --Genome Medical, a leading telegenomics technology and services company democratizing access to genomic-based medicine, today announced that it has raised $14 million to expand its clinical genetics care and operations. The funds will specifically support the accelerated development of the Genome Care DeliveryTM technology platform to address the rapid growth in virtual care needs and the shortage of genomic health care experts. Genome Medical will initially expand its patient engagement and care navigation platform for cancer, reproductive health and pharmacogenomics to bring the benefits of genomic medicine to a wider U.S. population.

This Series B extension financing was led by Samsung Catalyst Fund, which invests in the tech leaders of tomorrow to build a safer, smarter and more sustainable world. Existing investors, founders and additional growth partners also participated in this financing, bringing the total capital raised since Genome Medical was founded in 2016 to $60 million.

"The global COVID-19 pandemic and its health care impact are creating an unprecedented need for telehealth solutions. As a nationwide telehealth medical practice, Genome Medical is able to meet this need by expanding access to standard-of-care genetics and genomics through virtual health services -- reaching people everywhere in a timely and safe manner," said Lisa Alderson, CEO and Co-founder of Genome Medical. "We are pleased to partner with Samsung Catalyst Fund to forge consumer digital health technology together with genomic data and clinical genetics expertise to transform health care."

Advancements in genetic technology and testing have made preventive and personalized care more effective and affordable than ever, accelerating the adoption of precision medicine into routine clinical care for cancer, chronic diseases, reproductive health and genetic disorders. Importantly, these advancements also create new ways to monitor and treat infectious diseases and global outbreaks.

"Personalized medicine is the future of care, but too many health systems are not able to provide these critical services," said Francis Ho, Senior Vice President and Managing Director, Samsung Catalyst Fund. "When more patients and providers have access to cutting-edge genomic health technologies and expertise, we can save lives and improve health outcomes. The data and knowledge base built by Genome Medical will spur more innovation and help us focus on preventive methods for treating illnesses and new diseases. Samsung is excited to be a part of this journey."

Genome Medical's solutions are utilized by health systems, hospitals, payors, providers and employers to expand access to genetic health services. Genome Medical also services patients directly and accepts self-referrals. Approximately 17 percent of the population carries disease-related genetic mutations for which there are treatment or preventive options. By increasing access to genetics care, Genome Medical can directly improve outcomes for these individuals.

Genome Medical's growing network of genetic specialists provides on-demand, virtual care nationwide in the United States, with deep expertise across six major clinical areas: cancer, cardiovascular disease, reproductive health, pediatric genetics, pharmacogenomics and proactive health management. The Genome Care Delivery platform delivers education, engagement and provider-to-provider e-consults, as well as genetic wellness assessments and screening for population health management. The outcomes from this platform will make genomic medicine more affordable and accessible by providing the most up-to-date research and data-driven expertise. This includes a proprietary database to securely collect data on genomic profiles, electronic medical records, family health history and clinical insights.

Genome Medical's existing investors, founders and additional growth partners also participating in this financing included Chairman and Co-founder Randy Scott, Canaan Partners, Illumina Ventures, Echo Health Ventures, Perceptive Advisors, LRVHealth, Kaiser Permanente Ventures, Avestria Ventures, Casdin Capital, HealthInvest Equity Partners, Revelation Partners, Dreamers Fund, Flywheel Ventures and Manatt Ventures.

About Genome Medical Genome Medical is a national telegenomics technology, services and strategy company bringing genomic medicine to everyday care. Through our nationwide network of genetic specialists and efficient Genome Care DeliveryTM technology platform, we provide expert virtual genetic care for individuals and their families to improve health and well-being. We also help health care providers and their patients navigate the rapidly expanding field of genetics and utilize test results to understand the risk for disease, accelerate disease diagnosis, make informed treatment decisions and lower the cost of care. We are shepherding in a new era of genomic medicine by creating easy, efficient access to top genetic experts. Genome Medical is headquartered in South San Francisco. To learn more, visit genomemedical.comand follow @GenomeMed.

About Samsung Catalyst Fund Samsung Catalyst Fund is Samsung Electronics' evergreen multi-stage venture capital fund that invests in the new data economy and strategic ideas for Samsung's device solutions, mobile, and consumer electronics groups. Investments span across Mobile & Cloud Services, DeepTech Infrastructure, Biology + Tech, and Safety & Security. Through Samsung Catalyst Fund, entrepreneurs are enabled by Samsung's global brand, manufacturing and distribution, domain expertise, recruiting network, and world-class Innovation Fellows for advice and mentorship. For the latest news, please visit samsungcatalyst.com.

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Genome Medical Raises $14 Million to Expand Virtual Clinical Genetics Care and Accelerate Telemedicine Technology Development - BioSpace

The last known members of the Indigenous Beothuk people of Newfoundland were thought to have died out 200 years ago. But genes from these people have been found in a man living in Tennessee today, researchers reported.

Shanawdithit, a Beothuk woman who died of tuberculosis in 1829, was the last known Beothuk. The group had thrived in Newfoundland with as many as 2,000 people there, until the Europeans arrived in the early 1500s, bringing disease and pushing the Beothuk inland, away from their traditional fishing and hunting grounds, which led to their starvation.

However, even though the Beothuk culture is extinct, their genes are not. The new genetic study found "identical" Beothuk genes from Shanawdithit's uncle in a Tennessee man. They also found fairly-well matched genetic sequences in members of the modern-day Ojibwe (also known as the Chippewa) people, said study researcher Steven Carr, a professor of biology at Memorial University in Newfoundland, with a cross-appointment in population genetics with the university's Faculty of Medicine.

Related: 10 things we learned about the first Americans in 2018

The idea that the Beothuk live on isn't surprising to other Indigenous groups from the Newfoundland region. For instance, the oral traditions of Mi'kmaq First Nation (also spelled Miawpukek First Nation), a group whose history and geography overlap with that of the Beothuk, hold that Beothuk descendants have survived through the ages.

Carr conducted the study, in part, because "everybody wonders what happened to the Beothuk," he said. "There are people that claim descent from the Beothuk Indians," even though they don't have evidence to support such family ties. For instance, in 2017, a woman in North Carolina claimed to be of Beothuk descent after a commercial ancestry company, using incomplete data, mistakenly suggested this ancestry, according to the Canadian Broadcasting Corporation.

In an earlier study, published in 2017 in the journal Current Biology, researchers reported no close genetic relationship among three First Nation groups in Newfoundland: the Maritime Archaic, who lived in Newfoundland from about 8,000 to 3,400 years ago before mysteriously disappearing; the Palaeoeskimo, who visited and then lived on Newfoundland from about 3,800 to 1,000 years ago, meaning that they overlapped with the Maritime Archaic and the Beothuk; and the Beothuk, who lived on Newfoundland from about 2,000 to 200 years ago.

In the new study, published April 13 in the journal Genome, Carr reanalyzed already published genetic data from the Beothuk. In a nutshell, he looked at mitochondrial DNA (genetic data passed down from mothers to children) taken from the archaeological remains of 18 Beothuk individuals and the skulls of Shanawdithit's aunt and uncle, Demasduit and Nonosabasut, respectively. (These skulls had been stolen in 1828 and sent to the University of Edinburgh, but were repatriated to Newfoundland in March after a long campaign by the Mi'kmaq and other Indigenous groups, according to The Guardian.)

Carr searched for matches to the Beothuk mitochondrial DNA in GenBank, a database run by the U.S. National Institutes of Health that is chock-full of DNA sequences from research projects done around the world, as well as from people who use commercial DNA testing.

The search showed that a Tennessee man had mitochondrial DNA matching Nonosabasut, Carr said. The man told Carr he had traced his mother's side of the family five generations back, and he was surprised about his link to the Beothuk, as he wasn't aware of any First Nation relations in his genealogy tree.

"He's now extremely intrigued and will continue looking for that [First Nations link]," Carr said.

Just like in the Current Biology study, Carr found that the Maritime Archaic were not closely related to the Beothuk. However, the two groups do share a very distant ancestor; the oldest known Maritime Archaic individual who died at about the age of 12 in southern Labrador about 8,000 years ago, according to an analysis of the burial has DNA that is similar to the historic Beothuk, said William Fitzhugh, director of the Arctic Studies Center at the Smithsonian Institution, who was not involved with either study.

That's likely because the common ancestor of Indigenous Northeastern North America (except for the Innu and Innuit) date to at least 15,000 years ago, and the different groups that spread across this region likely descended from this ancestor, Carr said. However, the relationship between the Maritime Archaic and the Beothuk is distant, unlike the extremely close relation Carr found between the Beothuk and the Tennessee man.

Related: In images: An ancient long-headed woman reconstructed

The GenBank search also showed that the Beothuk and the ancient Maritime Archaic peoples from Newfoundland "both share ancestry with modern Canadian Ojibwe, meaning their genes can be traced back to ancestral Indian peoples in more geographically central regions [of Canada]," Fitzhugh told Live Science in an email.

However, the new study is limited by its sample size, Fitzhugh noted.

"One of my reactions is how complicated these DNA studies are and how dependent they are on available samples; that the technology of genomic analysis is relatively new and evolving rapidly, perhaps leading to different results," Fitzhugh said.

In an earlier study, Carr and colleagues looked for genetic links between the Beothuk and Mi'kmaq. But this 2017 study, published in the journal Mitochondrial DNA Part A, was small and the results were largely inconclusive, Carr said.

Despite these results, the study put them on the radar of Chief Mi'sel Joe of the Mi'kmaq First Nation. "The chief was interested in just having it demonstrated what they believed to be true," Carr said that the Mi'kmaq and the Beothuk had pursued "family relations" with one another before the Beothuk went culturally extinct, Joe told Live Science.

There is only one Mi'kmaq in GenBank, so next Carr plans to work with Mi'kmaq First Nation to determine whether the Beothuk and Mi'kmaq are closely related, he said. This new study will include at least 200 or more registered Mi'kmaq (also spelled Mig'maw) people, so it will be larger than the 2017 study, he noted. (Carr added that he is serving as the study's principal investigator and advisor to the Mi'kmaq in a private capacity, through his company Terra Nova Genomics. This project is being funded through a National Geographic Explorer grant to Mi'kmaq First Nation.)

The results from this study may help detail the historic relationship between the Beothuk and Mi'kmaq people.

"We shared the same island [of Newfoundland] and the island really is not that big," Joe said. "Of course, from time to time, our people would encounter them and sometimes live with them," Joe said. "It wasn't always friendly," because of rivalries, but other times it was, he said.

Originally published on Live Science.

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Genes from 'culturally extinct' Indigenous group discovered in unsuspecting Tennessee man - Livescience.com

Finding vaccines or drugs against COVID-19 is certainly one of the main current objectives of medical research centers worldwide. At Childrens National Medical Center, researchers are deploying technology tools from Amazon Web Services Inc. to combine hundreds of data sets to identify genes that might be targeted to treat many diseases, including COVID-19.

We know that there are a lot of drugs that target different genes,and we are particularly interested in, for example, can we repurpose some of these drugs to treatdifferent types of viruses, including COVID-19? said Wei Li (pictured), principal investigator at the Center for Genetic Medicine Research & Center for Cancer and Immunology Research at Childrens National Medical Center.

Li spoke with Stu Miniman, host of theCUBE, SiliconANGLE Medias livestreaming studio, during the AWS Public Sector Summit event. They discussed how the genome project can help combat COVID-19, as well as the role of AWS technology tools in scientific research. (* Disclosure below.)

The Childrens National Medical Center has been using computational biology and gene editing approaches to understand humangenome and disease, and it is particularly interested in a gene-editingtechnology called CRISPR screening, according to Li, who has a research background in computer science.

This is a fascinating technology because it tells you whether one of the 20,000human genes are connected with some certain disease phenotype in one single experiment, he said. We are tryingto, for example, perform machine-learning and data-mining approaches to find new clues of human diseasefrom the original mix and screening big data.

CRISPR screening and other similar screening methods have been widely used in recent years by several research laboratories to study virus infections, such as those related to HIV, Ebola, influenza and now coronavirus, according to Li. Then, the team at the Childrens National Medical Center had an idea: to connect all the sets of screening data related to these viruses to try to extract new information that cannot be identified in a single study.

Can we identify new patterns or new human genes that are commonly responsible for many different virus types? Or can we find some genes that work only from some certain type of viruses? he asked.

Researchers use AWS technology to process and analyze huge amount of data sets, in addition to creating an integrated database in the cloud, so that research results can be freely accessed around the world. It is estimated that AWS technology can reduce the time to process screening data from months to days, according to Li.

Two major benefits are expected from the outcome of this research project.

The first thing is that we hope to find some genes thatcan be potentially drug targets. So, if there are existing drugs that target the genes, then that would be perfect, because we dont need to do anything about this, he explained. And,in the end, we hope that these drugs can have the broad antiviral activity; that means that these drugs can be potentially used to treat COVID-19 and in the future if theres a new virus coming out.

Watch the complete video interview below, and be sure to check out more of SiliconANGLEs and theCUBEs coverage of the AWS Public Sector Summit event. (* Disclosure: TheCUBE is a paid media partner for the AWS Public Sector Summit Online event. Neither Amazon Web Services Inc., the sponsor for theCUBEs event coverage, nor other sponsors have editorial control over content on theCUBE or SiliconANGLE.)

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Children's National Medical Center and AWS partner for genome project targeting COVID-19 - SiliconANGLE

Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P<310-8) with age-of-onset. Forty-five variants had comparable effects on the onset of the three individual diseases and 38 were also associated with allergic disease case-control status in an independent study (n = 222,484). We observed a strong negative genetic correlation between age-of-onset and case-control status of allergic disease (rg = -0.63, P = 4.510-61), indicating that cases with early disease onset have a greater burden of allergy risk alleles than those with late disease onset. Subsequently, a multivariate GWAS of age-of-onset and case-control status identified a further 26 associations that were missed by the univariate analyses of age-of-onset or case-control status only. Collectively, of the 76 variants identified, 18 represent novel associations for allergic disease. We identified 81 likely target genes of the 76 associated variants based on information from expression quantitative trait loci (eQTL) and non-synonymous variants, of which we highlight ADAM15, FOSL2, TRIM8, BMPR2, CD200R1, PRKCQ, NOD2, SMAD4, ABCA7 and UBE2L3. Our results support the notion that early and late onset allergic disease have partly distinct genetic architectures, potentially explaining known differences in pathophysiology between individuals.

PubMed

Link:
Age-of-onset information helps identify 76 genetic variants associated with allergic disease. - Physician's Weekly

CAMBRIDGE, Mass., June 30, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the retirement of Sandy Mahatme, Sareptas executive vice president, chief financial officer and chief business officer, from the company effective July 10, 2020. The company has commenced a search process to identify the future chief financial officer. During the interim period, the finance and accounting functions will report directly to Sareptas Chief Executive Officer, Doug Ingram, and other departments reporting to Mr. Mahatme will be overseen by members of Sareptas executive committee.

The Sarepta from which Sandy retires is a very different one from the organization he joined as our chief financial officer some eight years ago. And the Sarepta of today a financially solid biotechnology organization with perhaps the industrys deepest and most valuable pipeline of genetic medicine candidates with the potential to extend and improve lives would not have been possible without Sandys business acumen and dedication, said Doug Ingram, president and chief executive officer, Sarepta Therapeutics. On behalf of our board of directors and the entire organization, I want to wish Sandy all the best in his next journey and thank him for his invaluable and numerous contributions to our success and for having built a strong team of finance leaders who will continue to perform as he departs.

Said Mr. Mahatme, It has been a privilege to serve as Sareptas CFO and CBO for almost eight years and to have participated in its remarkable transformation and extraordinary growth. Working with this leadership team and our talented colleagues, we have built a strong foundation for Sareptas ongoing success in achieving its goal of changing the lives of patients with rare diseases around the world. Having built a strong team of finance, IT, facilities, manufacturing and business development professionals, I feel confident that this is a good time to transition to other opportunities, knowing that Sarepta is well-positioned to continue to lead the industry.

Sandy will continue to serve on the Board of Directors for Flexion Therapeutics, Inc., Aeglea BioTherapeutics, Inc., and Idorsia Pharmaceuticals Ltd.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Forward-Looking StatementThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the search process to identify the future chief financial officer, the reporting structure during the interim period and the performance of the finance team; Sareptas potential to extend and improve lives; Sareptas goal of changing the lives of patients with rare diseases around the world; and Sarepta being well-positioned to continue to lead the industry.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: Sarepta may not be able to execute on its business plans and goals, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its product candidates to market, due to a variety of reasons, many of which may be outside of Sareptas control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates and the COVID-19 pandemic; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect Sareptas business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Internet Posting of Information

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

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

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

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

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Sarepta Therapeutics Announces Retirement of Sandy Mahatme, Chief Financial Officer and Chief Business Officer - GlobeNewswire

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

The project, the results of which were published in the journal Nature, offered whole-genome sequencing as a diagnostic test to patients with rare diseases across an integrated health system, a world first in clinical genomics.

Whole genome sequencing is the technology used by the 100,000 Genomes Project, a service set up by the government which aims to introduce routine genetic diagnostic testing in the NHS. The integration of genetic research with NHS diagnostic systems increases the likelihood that a patient will receive a diagnosis and the chance this will be provided within weeks rather than months.

The multi-centre study, led by researchers at the National Institute for Health Research (NIHR) BioResource together with Genomics England, demonstrates how sequencing the whole genomes of large numbers of individuals in a standardised way can improve the diagnosis and treatment of patients with rare diseases.

The researchers, including experts from the University of Bristol, studied the genomes of groups of patients with similar symptoms, affecting different tissues, such as the brain, eyes, kidney, blood, or the immune system. They identified a genetic diagnosis for 60 per cent of individuals in one group of patients with early loss of vision.

Principal investigators Andrew Mumford, Professor of Haematology, and Moin Saleem, Professor of Paediatric Renal Medicine, led the set-up of the programme and oversaw regional enrolment in the South West. Professor Mumford provided national oversight for blood related disorders, while Professor Saleem managed inherited kidney diseases.

Professor Mumford and researchers in the School of Cellular and Molecular Medicine collaborated with the Bristol NIHR Biomedical Research Centre and the University of Cambridge to develop ways to improve the genetic identification of blood disorders, contributing significantly to the breakthrough diagnostic potential.

Professor Mumford said: This pioneering study illustrates the power of whole genome sequencing for diagnosis of rare human diseases. The approach developed in this research has paved the way for the flagship 100,000 Genomes Project and the introduction of whole genome sequencing into standard NHS care.

Professor Saleem established the UK National Renal Rare Disease Registry, and the national and international NephroS (Nephrotic Syndrome) groups, based within the UK Renal Registry in Bristol. These provided recruitment, essential genetic data, and DNA collection for the study. Researchers in Bristol provided functional and clinical insights leading to the discovery of causative genes relating to kidney disorders.

Professor Saleem said: Rare diseases in their entirety are common, in that there are more than 7,000 different rare diseases in total affecting about 7 per cent of the population. Most have a genetic cause, so this research for the first time brings the most powerful genetic sequencing capabilities to apply across the whole health service, meaning all patients will now have the best possible chance of finding their individual genetic defect.

In the study, funded mainly by the National Institute for Health Research, the entire genomes of almost 10,000 NHS patients with rare diseases were sequenced and searched for genetic causes of their conditions. Previously unobserved genetic differences causing known rare diseases were identified, in addition to genetic differences causing completely new genetic diseases.

The team identified more than 172 million genetic differences in the genomes of the patients, many of which were previously unknown. Most of these genetic differences have no effect on human health, so the researchers used new statistical methods and powerful supercomputers to search for the differences which cause disease a few hundred needles in the haystack.

Using a new analysis method developed specifically for the project, the team identified 95 genes in which rare genetic differences are statistically very likely to be the cause of rare diseases. Genetic differences in at least 79 of these genes have been shown definitively to cause disease.

The team searched for rare genetic differences in almost all of the 3.2 billion DNA letters that make up the genome of each patient. This contrasts with current clinical genomics tests, which usually examine a small fraction of the letters, where genetic differences are thought most likely to cause disease. By searching the entire genome researchers were able to explore the switches and dimmers of the genome the regulatory elements in DNA that control the activity of the thousands of genes.

The team showed that rare differences in these switches and dimmers, rather than disrupting the gene itself, affect whether or not the gene can be switched on at the correct intensity. Identifying genetic changes in regulatory elements that cause rare disease is not possible with the clinical genomics tests currently used by health services worldwide. It is only possible if the whole of the genetic code is analysed for each patient.

Dr Ernest Turro, from the University of Cambridge and the NIHR BioResource, said: We have shown that sequencing the whole genomes of patients with rare diseases routinely within a health system provides a more rapid and sensitive diagnostic service to patients than the previous fragmentary approach, and, simultaneously, it enhances genetics research for the future benefit of patients still waiting for a diagnosis.

"Thanks to the contributions of hundreds of physicians and researchers across the UK and abroad, we were able to study patients in sufficient numbers to identify the causes of even very rare diseases."

Paper:

Whole-genome sequencing of patients with rare diseases in a national health system, by Ernest Turro et alin Nature.

There are thousands of rare diseases and, together, they affect more than three million people in the UK. To tackle this challenge, the NIHR BioResource created a network of 57 NHS hospitals which focus on the care of patients with rare diseases.

Based on the emerging data from the present NIHR BioResource study and other studies by Genomics England, the UK government previously announced that the NHS will offer whole-genome sequencing analysis for all seriously ill children with a suspected genetic disorder, including those with cancer. The sequencing of whole genomes will expand to one million genomes per year by 2024.

Whole-genome sequencing will be phased in nationally for the diagnosis of rare diseases as the standard of care, ensuring equivalent care across the country.

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July: Genome sequencing rare diseases | News and features - University of Bristol

Christine Stanley, Ph.D., Chief Director of Clinical Genomics at Variantyx

The answer to questions about human disease can be found in our genes. The difficulty in the past has been the testing process, a sort of trial and error approach of drilling down into the multitude of variants that can be found within the genes, variants that when analyzed in tandem with detailed clinical histories can actually tell the story and lead to a faster diagnosis.

Human beings carry around 20,000 genes and, of those, approximately 5,000 are somewhat understood, and those genes can be associated with several diseases and each disease can be associated with dozens of clinical symptoms or more. It was believed that five percent or less of the human population carry variants involved in genetic diseases. But a recent study in the Annals of Internal Medicine, now suggests the number of people with variants linked to genetic diseases is closer to 20 percent. Many other factors may determine whether an individual actually develops a disorder, but these numbers suggest the acceptance of a new approach that provides the most useful diagnostic data from a single test thats easier on the patients and families and provides the shortest time to a diagnosis and the best chance at implementing treatments.

Here is an important reason. Parents with children suspected of having a genetic disease routinely face a diagnostic odyssey that typically lasts five to seven years and entails seeing an average of seven different physicians. Its an odyssey that comes with an average cost of diagnosis reaching $21,099, more than seven times the cost of a single whole-genome sequencing test.

Historically, genetic testing has been really disjointed. Tests that were developed 10 to 15 years ago are still being run today by laboratories. These tests target extremely specific areas for an exceedingly small number of changes that cause a certain disease. It is like looking under a lamp post. And an individual, who is suspected of having the disease, will be tested for one particular variant or a small number of variants. It is an approach that is lacking in quick, definitive, and accurate results. Unless the tested area accounted for the majority of the disease-causing variants, it then forces the ordering of more tests to try to find other causes of the disease, either within that same gene or within other genes. This is happening sequentially, so the patient keeps receiving negative results, and then additional tests are ordered and the merry-go-round can continue for years. It cost families financially and emotionally. Delaying the time to diagnosis can also close the effective treatment window in cases where early treatment is important for a good prognosis.

Ordering a single whole-genome sequencing (WGS) test right off the bat replaces almost all of those long, cumbersome, and costly processes. It all but eliminates having to endure multiple genetic tests because a patient needs only one sample and one turnaround time for the greatest chance to arrive at the correct diagnosis. More importantly, if the test results were negative and then a new gene associated with the patients disease is reported the next day, and that patient has a variant in that gene, a clinician can make that connection by reanalyzing the data rather than by bringing the patient back in for a new sample. In that way, genomic testing has really revolutionized the entire genetic testing industry by providing a comprehensive analysis with the shortest time to diagnosis.

Whole-genome sequencing does not require the mechanical step of isolating genes first. It enables the identification of different types of variants that labs do not typically see when one isolates genes. It also enables the use of sophisticated algorithms applied via software to allow for the ranking of variants in a way that pulls variants that are known to cause the disease to the top of the list for examination. Variants can also be ranked by looking at the severity of the effect of the variant on genes that most closely match the patients clinical symptoms. Those results are parsed based on the known inheritance patterns of these genes. Patients can be looked at through both of those lenses at the same timethe severity of the changes that are identified, and the changes that match with the clinical symptoms of the patient.

Whole-genome testing will soon become the first line of defense, rather than a last resort for families or individuals seeking clarity on genetic diseases because of its ability to incorporate sophisticated bioinformatics and data interpretation. It is a faster route for the proper diagnosis and treatment for both early-onset diseases like epilepsy and intellectual disabilities, as well as late-onset disorders like ataxia and ALS. It can be used to diagnose almost any genetic disorder spanning such areas as neurology, endocrinology, nephrology, hearing and vision loss, blood disorders like thalassemia, muscular dystrophy, etc. While insurance reimbursement can be challenging today, the insurance payers will come around, as they have always done in the past, because this test saves time, money, and supports better outcomes for patients.

About Christine Stanley, Ph.D.

Christine Stanley, Ph.D., is the Chief Director of Clinical Genomics for Variantyx, a provider of highly specialized genetic testing to clinicians and their patients. Christine is responsible for overseeing clinical genomic interpretations and regulatory compliance for the clinical laboratory.

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Eliminating the Long, Cumbersome and Costly Diagnosis of Genetic Diseases - HIT Consultant

DUBLIN, July 1, 2020 /PRNewswire/ -- The "Rare Disease Diagnostics: Technologies and Global Markets" report has been added to ResearchAndMarkets.com's offering.

The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019, rising at a CAGR of 9.5% over the forecast period.

The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.

This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.

The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.

More than 95 companies in the rare disease diagnostic industry are profiled in this report.

The research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.

The report includes:

Market Insights

Rare diseases comprise a growing public health priority, as they affect upward of 300 million people globally and they are difficult to diagnose and treat.

There is a pressing need for better ways to detect and diagnose rare diseases, as well as to provide companion diagnostics for therapy guidance, clinical trials enrollment and therapy monitoring applications.

Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions. Many rare diseases go undiagnosed for long periods of time because patients, families and physicians may have limited awareness of certain diseases, and the symptoms may not be informative to healthcare workers who may not have encountered such diseases before.

Extended time to diagnosis of a rare disease, along with so-called diagnostic odysseys, can lead to negative outcomes, including misdiagnosis or disease progression. Rapid, accurate diagnostics can significantly shorten these diagnostic odysseys.

In addition to early detection and diagnostic potential, rare disease therapeutics will be important in orphan drug development and use. Orphan drugs address rare disease patient populations, and they are expected to have a high growth rate through 2024. By 2024, orphan drugs may make up as much as one-fifth of global prescription sales. Rare disease diagnostics can be used to help physicians make proper decisions regarding which therapies to use and ways to monitor the efficacy of those therapies during treatment courses. Rare disease diagnostics can also be used to help select patients for orphan drug clinical trials.

More than 70% of rare diseases are inherited conditions, and they thus have genetic components, so this industry relies heavily on genetic analysis methods, including polymerase chain reaction (PCR), next-generation sequencing (NGS) and Sanger sequencing.

Key Topics Covered

Chapter 1 Introduction

Chapter 2 Summary and Highlights

Chapter 3 Overview

Chapter 4 Technology Background

Chapter 5 Rare Disease Diagnostics Initiatives

Chapter 6 Rare Disease Diagnostic Industries

Chapter 7 Rare Disease Diagnostics Strategic Alliances and Acquisitions

Chapter 8 Rare Disease Diagnostics Markets

Chapter 9 Rare Disease Diagnostics Patents and Intellectual Property

Chapter 10 Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/rp6ok6

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

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Rare Disease Diagnostics Industry Anticipated to Reach $26.7 Billion by 2024 - Market Shares by Disease Class, Indication, Analysis Platform, Analysis...