Tag: Gene

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This Breast Most cancers Gene Is Much less Effectively Recognized, however Almost as Harmful

This Breast Cancer Gene Is Less Well Known, but Nearly as Dangerous

Heidi Marsh, 46, of Seattle, tested positive for the PALB2 mutation after her mother – a patient with breast and pancreatic cancer – was found to have it. She said her own doctor was unaware of the gene.

“My obstetrician was aware of my mother’s history and never suggested a genetic test,” Ms. Marsh said. “She’s never heard of it. I raised them. The oncologist she sent me to didn’t suggest an operation. “

But the Seattle Cancer Care Alliance, a partner at the Fred Hutchinson Cancer Research Center, where Ms. Marsh’s mother was an oncology nurse, knew about the gene mutation. The group immediately put together a team that consisted of a surgical oncologist, a pancreatic cancer specialist, a geneticist, a nutritionist, and a social worker.

“It changed life,” said Ms. Marsh, who had fallopian tubes removed in April. (She was told that most ovarian cancer occurs in the fallopian tubes first. She plans to have her ovaries removed after menopause.)

She will have breast monitoring with alternating mammograms and breast MRIs every six months. She already had an endoscopic ultrasound to examine her pancreas.

She found a Facebook group, PALB2 Warriors, to be helpful. Having a healthcare background – she was a phlebotomist – she says she looks beyond individual posts, to studies that are placebo-controlled and peer-reviewed to get information. But when it comes to personal testimonials with prophylactic mastectomies and reconstructions, this is invaluable.

“That wasn’t remotely on my radar screen,” she said. “In a way, I feel empowered. But I also have the feeling that I am waiting for the other shoe to fall, that cancer will be inevitable. “

But above all, she is grateful that she knows about PALB2 and the associated risks.

“It’s an alarm clock and a wake-up call,” she said. “You can do something about it if you want.”

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CRISPR gene enhancing may attain sufferers ‘very quickly’: Intellia CEO

CRISPR gene editing could reach patients ‘very soon’: Intellia CEO

Following a breakthrough trial where gene-editing technology CRISPR completed its first systematic delivery as medicine to a human body, Intellia Therapeutics CEO John Leonard said he hopes the gene therapy could be made available to patients “very, very soon.”

“These approaches are subjected to the standard sorts of clinical trials that any drug or gene therapy would be studied under, so we’re in the earlier stages of that,” Leonard said on CNBC’s “Closing Bell” on Thursday afternoon.

He added that over the next few years, the company expect the medical technology to be subjected to standard reviews, “but our hope is that this will be available to patients very, very soon.”

CRISPR, or clustered regularly interspaced short palindromic repeats, effectively cuts genomes and slices DNA to treat genetic diseases.

The latest development, the result of a trial between Intellia and biotech company Regeneron, treated a rare disease after being given as an IV infusion. Previously, other applications of the CRISPR technology had been limited to ex vivo therapy, or where cells are removed from the body for genetic manipulation in a laboratory and then reintroduced to the body.

“What’s particularly exciting about that is we were able to completely inactivate that gene and see that in the clinical effects of the patient, so a major advance in the gene editing space,” Leonard said.

Heart, diabetes and broad disease implications

CRISPR has broad applications, and Leonard said there is a lot of work being done to target some of the most common diseases and causes of death, such as heart disease and diabetes.

“The challenge is getting into those particular genes that cause disease, so we started in the liver, which is an area where there are many problems with disease-causing genes, and it’s been shown that we can reach that very, very successfully,” Leonard said. “There’s other tissues after that that we’re pursuing, especially the bone marrow, where a long list of blood-borne-type diseases can be addressed.”

A key for CRISPR is targeting diseases that are monogenic, or caused by one particular gene, allowing this type of gene-editing therapy to be successful, Leonard said. Other diseases that are polygenic, such a cancers or autoimmune diseases, will be “more difficult to tackle,” he added.

A researcher watches the CRISPR/Cas9 process through a stereomicroscope at the Max-Delbrueck-Centre for Molecular Medicine.

picture alliance | picture alliance | Getty Images

The new treatment is still in the early stages and it has not been priced yet, but as it develops, Leonard said he believes it will be “very valuable for patients and probably resource sparing for the health care system overall.”

“It really comes down to the some of the advantages with single application where literally it’s a one-and-done therapy,” Leonard said. “We expect over time this will be generally very, very favorable in the economics of this entire field.”

Jennifer Doudna, who was awarded the 2020 Nobel Prize in chemistry for her work on CRISPR gene editing and is the co-founder of Intellia, recently told the CNBC Evolve Global Summit that cost is a significant challenge, and in the case of sickle cell anemia, where CRISPR has had early success, treatment can still be $2 million.

“That is clearly not a price point that will make this available to most people that can benefit from it,” she said. Innovations in delivery of CRISPR may help lower cost, but Doudna also said that the medical field needs to figure out how to “scale the molecule production so that we reduce costs.”

She told CNBC the evolution of the technology from the publication of her early work to clinical trials showing it to be effective in treating diseases in less than 10 years represents, “One of the fastest rollouts I think of technology from the fundamental, initial science to an actual application.”

“It’s largely because the technology comes at a moment when there’s enormous demand for genome editing, as well as a lot of knowledge about genomes,” Doudna said.

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How CRISPR gene enhancing will deal with illness: Intellia founder Doudna

How CRISPR gene editing will treat disease: Intellia founder Doudna

The gene editing technology CRISPR reached an important milestone last weekend and completed its first systemic drug delivery to the human body.

CRISPR, or clustered, regularly spaced short palindromic repeats, cuts genomes and cuts DNA effectively to treat genetic diseases.

The latest breakthrough, the result of a study between biotech company Regeneron and Boston startup Intellia Therapeutics, treats a rare disease after it has been given as an IV infusion. Previously, other uses of CRISPR technology have been limited to ex vivo therapy, or where cells are removed from the body for genetic manipulation in a laboratory and then returned to the body.

Jennifer Doudna, who was awarded the Nobel Prize in Chemistry in 2020 for her work on CRISPR gene editing and is the co-founder of Intellia, recently told CNBC about the development of the technology from the publication of her early work to clinical studies showing its effectiveness at treating disease in less than 10 years means “one of the fastest rollouts in my opinion of technology from basic, initial science to actual application.”

“This is mainly because the technology comes at a time when there is a huge demand for genome editing and a lot of knowledge about genomes,” said Doudna at the recent CNBC Global Evolve Summit in mid-June.

As for next, Doudna highlighted several challenges and opportunities that CRISPR has on the horizon.

Deploying CRISPR remains a major challenge

As technology continues to advance, the task of getting the processed molecules in the body to the cells in the areas where they are needed remains a challenge.

“This is a particular issue in clinical medicine where the ability to manipulate brain cells, heart cells or muscle cells has incredible potential, but right now we don’t really have the tools to introduce the editors to those cells,” said Doudna. “We have the editors; we just don’t know how to get them where they need to go.”

Sickle cell anemia was an early focus

Much of the success of CRISPR’s previous applications has been in ex vivo therapy, in which extracted cells are manipulated in a laboratory and then returned to a patient.

Sickle cell anemia, which is genetically inherited and affects approximately 100,000 Americans, according to the CDC, was a particularly good target for the technology because blood stem cells “can be harvested, processed, and then returned to patients,” Doudna said.

Genetic eye diseases were also a focus for CRISPR applications, as Doudna said, “It is certainly easier to get into the eye than other parts of the body.”

The delivery of the processed cells to the liver has also proven to be easier so far. “A liver is an organ that naturally accepts molecules in the body,” she said.

Any advance in eradicating the 100+ liver diseases could have a huge impact on the lives of Americans. According to the American Liver Foundation, at least 30 million people, or one in ten Americans, have liver disease.

Next, let’s focus on the brain, heart, muscles

The next step for innovation around CRISPR will be to move these cells to other parts of the body like the brain, heart and muscles, Doudna said.

“There are already some technologies that make some of this possible, for example with different types of viruses or virus-like particles, and I look forward to the innovations that will come in this regard over the next few years,” she said.

Treatment costs are a problem

But as technology improves and scientists become able to fight disease throughout the body, Doudna said that CRISPR technology needs to be cheaper in order for it to have “widespread effects.”

Treating sickle cell anemia with CRISPR therapy costs about $ 2 million per patient, according to Doudna.

“That is clearly not a price point that makes this available to most of the people who can benefit from it,” she said.

While addressing delivery challenges can also help reduce costs, the medical community needs to figure out how “to scale molecule production so that we can cut costs,” said Doudna.

Applying CRISPR to Agriculture

The advancement of CRISPR technology may have an impact on other industries as well, with agriculture being one of the first to benefit.

Rather than addressing genetic problems through breeding, which can take months to years, or through current methods of genetically modifying crops that have seen a boom over the past few decades but that incorporate biological material from other species, CRISPR technology can address the Genes from plants “without touch” manipulate everything else, “said Doudna.

“This opens the door to a lot of things that can be done now to both address the challenges of climate change, manage drought, and introduce properties into the plants that will protect them from pests,” she said.

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Health

Gene testing agency 23andMe trades increased after Branson SPAC merger

Gene testing firm 23andMe trades higher after Branson SPAC merger

Anne Wojcicki, co-founder and CEO of 23andMe (right) celebrates with 23andMe employees after remotely ringing the NASDAQ opening bell at the headquarters of DNA technology company 23andMe in Sunnyvale, California, USA on June 17, 2021.

Peter DaSilva | Reuters

The newest trade on the exchange is “ME”.

23andMe, a personalized medicine and home genetic test kit company, went public on Thursday through a merger with a Richard Branson SPAC, VG Acquisition Corp..

23andMe stock rose 21% on the Nasdaq on its first day of trading as a publicly traded company.

Founded by Anne Wojcicki – the former wife of Google founder Sergey Brin who was an early investor in the company – 23andMe was founded 15 years ago. Together with Ancestry, it helped advance the idea that genetic testing is not just a medical field, but a big consumer business. His home test kits, which enabled people to find out their genetic profiles and ancestry by sending some saliva in the mail, ushered in a new era of personalized medicine, albeit not without controversy.

23andMe, a five-time CNBC Disruptor 50 company, had no straight or sure path to success as a publicly traded company.

It was reviewed by the FDA earlier in its history; Questions about consumer privacy continue to arise as genetic information is collected from millions of people; has run into financial difficulties in recent years when the market for personalized genetic testing seemed saturated; Skepticism about the basis of their gene-based risk analysis remains controversial; and as it delves deeper into drug development, a gap in its current customer base and underlying genetic data between a mostly European genetic profile and an underrepresentation of many minorities and ethnic groups.

“It will take time … to really make sure we get all communities to participate in the research,” Wojcicki said Thursday morning in an interview with CNBC’s TechCheck. “You can’t make discoveries in a population if those people aren’t part of it. We need the right customers and we have to present the product to them in the right way.”

Wojcicki says the company has big things ahead of it for both its consumer and drug discovery and development platforms. Approximately 80% of 23andMe’s 11 million members now choose to share their genetic information (anonymized) for drug development research.

“Our genetics represent all of life on this planet and we have the opportunity to understand what it means and, in doing so, it will improve your own life, but it will also contribute to all kinds of research discoveries,” said Wojcicki.

She says the controversy over the medical usefulness of the information won’t go away once it is put into the hands of consumers, and it ranges from critical, clinical information such as mutations in the gene that causes breast cancer, BRCA, to “more controversial” genetic ones Information on variants of Alzheimer’s disease. Some people at higher risk of blood clots choose to walk around more during flights based on their 23andMe reports.

However, she added that consumers have shown that they want this information to help them make decisions.

In the case of Alzheimer’s risk, she said, “This information … really affects how they live their lives … how they retire … plan to get older.”

Her own 10-year-old son used the company’s lactose intolerance analysis to diagnose his abdominal pain, and Wojcicki herself said, although she was reluctant to talk about her personal use of the product, as the daughter of a woman who suffered from breast cancer and who a higher risk of illness, the information influences their decision to drink that “leisure glass of wine”.

“Over the past 15 years we’ve built the infrastructure so we can take off to prove to consumers that we can get the information and understand it without a healthcare professional,” she said.

In her opinion, the key to the future is that consumers want to use the information not only to change their lives, but also to contribute to drug discovery.

23andMe has 40 programs ongoing on its drug discovery platform.

“We want them to have a truly personalized health experience and … benefit the human genome when all of this aggregated data is turned into therapeutic programs,” said Wojcicki. “When I think about the future of therapeutics, the next five years are really about moving these programs forward and getting them into the clinic.”

The company also recently launched a subscription product to bring more content and services to consumers who want to take extra steps after their genetic reports.

“We reach thousands of people who call the customer care team each week and want to know how this information can be used and applied to lead healthier longer lives,” she said.

The IPO market already set an annual record for the transaction volume of $ 171 billion in 2021, and only halfway through the year. Average first day trading profits on trades this year were over 40%. Although both the traditional IPO market and SPAC yields have cooled in recent months, the Renaissance IPO ETF and CNBC SPAC Index have been negative since the start of 2021, with a continuation of last year’s big gains since the start of the year. Meanwhile, concerns about SPAC deals have increased, and some high profile SPACs like Branson’s Virgin Galactic and electric vehicle maker Lordstown Motors have shown high levels of volatility.

Nonetheless, Branson and other investors plan to bring another space company, the satellite internet service Virgin Orbit, to the public via a SPAC in the coming weeks.

This history has been updated for the company’s closing price on the first day of trading on Thursday.

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Gene Munster says Apple’s inventory has a path to $three trillion market cap

Gene Munster says Apple's stock has a path to $3 trillion market cap

Tech investor Gene Munster told CNBC Thursday that he saw a sensible path for Apple to reach a future market cap of $ 3 trillion.

The iPhone maker was the first publicly traded US company to reach a market capitalization of $ 2 trillion in August – a milestone that Munster anticipated in January when he advocated its stock trading 50% higher. As of Thursday, Apple was valued at nearly $ 2.3 trillion at roughly $ 133 per share.

Munster, who reported to Apple as a longtime analyst at investment bank Piper Jaffray, said on Squawk Box that he believes the California-based company can realistically hit $ 200 per share. That would put the market cap over $ 3 trillion.

“It has to be anchored in the result. This is the powerful piece of Apple history,” said Munster, co-founder of venture capital firm Loup Ventures. He said his forecast was based on Apple trading in value for money, or a multiple of 35, for earnings estimates for 2022.

“It’s a year out there, but I’m fast forwarding the conversation to the middle and back half of next year, and at that point we’ll be talking about 2022. If the market can take those 35 multiples – you know, we’re talking.” here not by an Amazon-like multiple – I think that this path is there, “said Münster.

Apple’s current price-to-earnings ratio is close to 41, after its stock rose 81% this year. Amazon, whose shares are up 76% this year, is trading 95 times.

One catalyst that could help push Apple further is the greater spread of remote working that is being triggered by the coronavirus pandemic, Munster said.

“This is generally seen as a game on the iPhone, a 5G game. That is good. That will have a positive effect on the numbers, but I think this acceleration of the digital transformation is powerful,” said Münster. “People who work from anywhere will upgrade and buy more Macs, iPads and services in the next 12 to 24 months.”

Munster also reiterated his belief that Apple’s multiples could withstand further expansion as investors rethink the company, which in recent years has been pushing to generate more revenue from services to increase hardware sales.

Munster, for his part, said Apple could use its hardware business for a service, such as buying a Mac by subscription. “We believe this is coming, and talking more about cars is a great opportunity for Apple’s multiples,” Munster said, alluding to reports that Apple may be making an electric car in a few years.

More broadly, he said he believes Apple will continue its strong stock performance into 2021, especially when compared to its so-called FAANG brothers. In addition to Apple, the group of technology companies also includes Amazon, Facebook, Google’s parent alphabet and Netflix.

“We believe there will be another break from FAANG,” said Münster, with Facebook and Netflix lagging behind Apple and Amazon. “I think the performance will come back from Apple in 2021. It may seem numb for a company to run FAANG for three straight years, but I think this will actually happen. I think this has a trail of 200 U.S. dollar [per share]. “