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Health data company expands in Stamford as demand grows for genetic research and personal medicine

Sema4, a health data research company, announced Thursday it opened a 70,000-square foot building in Stamford with more than 300 workers processing genomic tests, its third site in Connecticut to keep pace with growing demand for data-driven health care.

The Stamford laboratory complements Sema4 1/4 u2032s Branford lab that was expanded earlier this year and its headquarters, also in Stamford.

The new Sema4 lab replaces one in New York City, providing additional capacity to support genomic testing and expand digital health services. With its Stamford and Branford labs, Sema4 will increase its ability to provide health information across several thousand genetically identifiable diseases to patients.

Eric Schadt, founder and chief executive of Sema4, said the new Stamford site will be a hub for research and development for predictive modeling and information-driven testing.

In addition to lab employees, the Stamford facility also has capacity for 100 genetic counselors, bioinformatics specialists and support service staff. Sema4 has more than 500 employees in Connecticut across its two lab facilities and Stamford headquarters. Its workforce has quadrupled over the last three years.

Sema4 also maintains an office in New York City.

The company’s growth reflects rapid advances in personal medicine and genomics, which focuses on sequencing and analyzing an organism’s genome, the DNA content in a cell.

The state announced in 2018 a $6 million loan to Sema4 to move its New York City laboratory to Connecticut and create 400 jobs. “We were kind of busting at the seams,” Schadt said at the time.

In Connecticut, Sema4 is part of an expanding cluster of medical technology companies, such as Arvinas, a New Haven cancer pharmaceutical company, and the Guilford medical device company Butterfly Network.

Stephen Singer can be reached at [email protected]

———

©2020 The Hartford Courant (Hartford, Conn.)

Visit The Hartford Courant (Hartford, Conn.) at www.courant.com

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Pfizer Covid-19 vaccine a miracle for genetic medicine

COVID-19 vaccine
Illustrative image.
Image Credit: Shutterstock

“Look me in the eyes,” the doctor ordered, staring at me from behind her plastic face guard. Her eyes were blue, almost as blue as her hospital mask. Yet, after a moment, I started to turn and face the doctor on my left, who was jabbing a long needle deep into the muscle of my upper arm. “No!” the first doctor snapped. “Look at me!”

Then she explained. Because I was part of a double-blind clinical trial of an experimental covid-19 vaccine, they had to make sure that I didn’t get any clues about whether I was being injected with a real dose or merely a placebo made of saline solution.

It was early August, and I had enlisted in the clinical trial for the vaccine that has just reported very promising results: the one developed by Pfizer with the German company BioNTech. It is a new type of RNA vaccine that has never before been deployed.

Vaccines work by stimulating a person’s immune system. One traditional approach is to inject a weakened version of the dangerous virus. That’s the way we now fend off measles, mumps, rubella and chickenpox. Another method is to use a version of the virus or a part of the virus that has been totally killed.

The success of the Pfizer vaccine means that the plague year of 2020 will be remembered as the time when traditional vaccines began to be supplanted by genetic vaccines. Instead of delivering tiny and safe doses of the virus itself, these new vaccines deliver a piece of genetic coding that will instruct human cells to produce, on their own, components of a targeted virus. These safe components can then stimulate the patient’s immune system.

It is another wondrous miracle from a biotech revolution in which knowledge of genetic coding will become as important as digital coding and molecules will become the new microchips.

Carrying genetic instructions

I enrolled in the trial at Ochsner Hospital in my hometown of New Orleans partly to be a good citizen but also because I’m writing a book about the gene-editing tool known as CRISPR, and the star molecule in the book is RNA. The vaccine that was developed by Pfizer and BioNTech makes use of the most basic functions that RNA performs: serving as a messenger RNA (mRNA) that carries genetic instructions from DNA, which is bunkered inside a cell’s nucleus, to the manufacturing region of the cell, where it directs what protein to make. In the case of the covid-19 vaccine, the mRNA instructs cells to make a version of the spike protein that is on the surface of a coronavirus. That spike protein can then stimulate our immune system to create antibodies that will protect against the real coronavirus. In addition to the Pfizer version, the Cambridge, Mass.-based company Moderna is also making an mRNA vaccine.

When I volunteered, I was told that the study could last two years. That raised a few questions. What would

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medicine

I was part of a trial for Pfizer’s covid-19 vaccine. It’s a miracle for genetic medicine.

Walter Isaacson, a professor at Tulane, is the author of “The Code Breaker: Jennifer Doudna, Gene Editing, and the Future of the Human Race,” to be published in March.

“Look me in the eyes,” the doctor ordered, staring at me from behind her plastic face guard. Her eyes were blue, almost as blue as her hospital mask. Yet, after a moment, I started to turn and face the doctor on my left, who was jabbing a long needle deep into the muscle of my upper arm. “No!” the first doctor snapped. “Look at me!”

Then she explained. Because I was part of a double-blind clinical trial of an experimental covid-19 vaccine, they had to make sure that I didn’t get any clues about whether I was being injected with a real dose or merely a placebo made of saline solution.

It was early August, and I had enlisted in the clinical trial for the vaccine that has just reported very promising results: the one developed by Pfizer with the German company BioNTech. It is a new type of RNA vaccine that has never before been deployed.

Vaccines work by stimulating a person’s immune system. One traditional approach is to inject a weakened version of the dangerous virus. That’s the way we now fend off measles, mumps, rubella and chickenpox. Another method is to use a version of the virus or a part of the virus that has been totally killed.

The success of the Pfizer vaccine means that the plague year of 2020 will be remembered as the time when traditional vaccines began to be supplanted by genetic vaccines. Instead of delivering tiny and safe doses of the virus itself, these new vaccines deliver a piece of genetic coding that will instruct human cells to produce, on their own, components of a targeted virus. These safe components can then stimulate the patient’s immune system.

[Full coverage of the coronavirus pandemic]

It is another wondrous miracle from a biotech revolution in which knowledge of genetic coding will become as important as digital coding and molecules will become the new microchips.

I enrolled in the trial at Ochsner Hospital in my hometown of New Orleans partly to be a good citizen but also because I’m writing a book about the gene-editing tool known as CRISPR, and the star molecule in the book is RNA. The vaccine that was developed by Pfizer and BioNTech makes use of the most basic functions that RNA performs: serving as a messenger RNA (mRNA) that carries genetic instructions from DNA, which is bunkered inside a cell’s nucleus, to the manufacturing region of the cell, where it directs what protein to make. In the case of the covid-19 vaccine, the mRNA instructs cells to make a version of the spike protein that is on the surface of a coronavirus. That spike protein can then stimulate our immune system to create antibodies that will protect against the real coronavirus. In addition to the Pfizer version, the

Read More
medicine

I took the Pfizer covid-19 vaccine. It’s a miracle for genetic medicine.

Walter Isaacson, a professor at Tulane, is the author of “The Code Breaker: Jennifer Doudna, Gene Editing, and the Future of the Human Race,” to be published in March.

“Look me in the eyes,” the doctor ordered, staring at me from behind her plastic face guard. Her eyes were blue, almost as blue as her hospital mask. Yet, after a moment, I started to turn and face the doctor on my left, who was jabbing a long needle deep into the muscle of my upper arm. “No!” the first doctor snapped. “Look at me!”

Then she explained. Because I was part of a double-blind clinical trial of an experimental covid-19 vaccine, they had to make sure that I didn’t get any clues about whether I was being injected with a real dose or merely a placebo made of saline solution.

It was early August, and I had enlisted in the clinical trial for the vaccine that has just reported very promising results: the one developed by Pfizer with the German company BioNTech. It is a new type of RNA vaccine that has never before been deployed.

Vaccines work by stimulating a person’s immune system. One traditional approach is to inject a weakened version of the dangerous virus. That’s the way we now fend off measles, mumps, rubella and chickenpox. Another method is to use a version of the virus or a part of the virus that has been totally killed.

The success of the Pfizer vaccine means that the plague year of 2020 will be remembered as the time when traditional vaccines began to be supplanted by genetic vaccines. Instead of delivering tiny and safe doses of the virus itself, these new vaccines deliver a piece of genetic coding that will instruct human cells to produce, on their own, components of a targeted virus. These safe components can then stimulate the patient’s immune system.

[Full coverage of the coronavirus pandemic]

It is another wondrous miracle from a biotech revolution in which knowledge of genetic coding will become as important as digital coding and molecules will become the new microchips.

I enrolled in the trial at Ochsner Hospital in my hometown of New Orleans partly to be a good citizen but also because I’m writing a book about the gene-editing tool known as CRISPR, and the star molecule in the book is RNA. The vaccine that was developed by Pfizer and BioNTech makes use of the most basic functions that RNA performs: serving as a messenger RNA (mRNA) that carries genetic instructions from DNA, which is bunkered inside a cell’s nucleus, to the manufacturing region of the cell, where it directs what protein to make. In the case of the covid-19 vaccine, the mRNA instructs cells to make a version of the spike protein that is on the surface of a coronavirus. That spike protein can then stimulate our immune system to create antibodies that will protect against the real coronavirus. In addition to the Pfizer version, the

Read More
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Opinion | I took the Pfizer covid-19 vaccine. It’s a miracle for genetic medicine.

Then she explained. Because I was part of a double-blind clinical trial of an experimental covid-19 vaccine, they had to make sure that I didn’t get any clues about whether I was being injected with a real dose or merely a placebo made of saline solution.

Vaccines work by stimulating a person’s immune system. One traditional approach is to inject a weakened version of the dangerous virus. That’s the way we now fend off measles, mumps, rubella and chickenpox. Another method is to use a version of the virus or a part of the virus that has been totally killed.

The success of the Pfizer vaccine means that the plague year of 2020 will be remembered as the time when traditional vaccines began to be supplanted by genetic vaccines. Instead of delivering tiny and safe doses of the virus itself, these new vaccines deliver a piece of genetic coding that will instruct human cells to produce, on their own, components of a targeted virus. These safe components can then stimulate the patient’s immune system.

It is another wondrous miracle from a biotech revolution in which knowledge of genetic coding will become as important as digital coding and molecules will become the new microchips.

I enrolled in the trial at Ochsner Hospital in my hometown of New Orleans partly to be a good citizen but also because I’m writing a book about the gene-editing tool known as CRISPR, and the star molecule in the book is RNA. The vaccine that was developed by Pfizer and BioNTech makes use of the most basic functions that RNA performs: serving as a messenger RNA (mRNA) that carries genetic instructions from DNA, which is bunkered inside a cell’s nucleus, to the manufacturing region of the cell, where it directs what protein to make. In the case of the covid-19 vaccine, the mRNA instructs cells to make a version of the spike protein that is on the surface of a coronavirus. That spike protein can then stimulate our immune system to create antibodies that will protect against the real coronavirus. In addition to the Pfizer version, the Cambridge, Mass.-based company Moderna is also making an mRNA vaccine.

When I volunteered, I was told that the study could last two years. That raised a few questions. What would happen, I asked the coordinator, if the vaccine got approved before then? She told me that I would then be “unblinded,” meaning that they would tell me if I had gotten the placebo and, if so, immediately give me the real vaccine.

What would happen if some other company’s vaccine got approved while our trial was still underway? “That’s not been decided,” she conceded.

So, I went to the top. I posed these questions to Francis Collins, director of the National Institutes of Health, which is funding and overseeing the vaccine studies. “You have asked a question that is currently engaging the members of the Vaccines Working Group in serious debate,” he replied. Just a few days earlier, a

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Corporate Matching $200K Challenge Through December 2020 at ACMG Foundation for Genetic and Genomic Medicine

BETHESDA, Md., Nov. 5, 2020 /PRNewswire/ — The ACMG Foundation for Genetic and Genomic Medicine (ACMG Foundation) launched the Illumina/ACMG Foundation $200K Challenge for the fourth quarter of 2020. Longtime sponsor and Corporate Partner Program member Illumina pledged up to $200,000 to support the American College of Medical Genetics and Genomics’ (ACMG) new Evidence-Based Guidelines (EBG) Program.

With this latest sponsorship, Illumina is challenging companies and individuals to help fund ACMG’s recently created EBG Program. Illumina will match up to $200,000 in support in four giving categories: a $100K corporate match, two $45,000 corporate gifts, and one pool of $10,000 gifts that Illumina hopes will be matched by individual donors. To date, $220,000 of the possible $400,000 total has already been pledged.

“Having guidelines for genetic and genomic testing that are evidence driven and patient focused is critical to the appropriate adoption of personalized medicine. ACMG has demonstrated a strong commitment to building a robust, evidence-based guidelines program and their membership includes the expertise required,” said Phillip Febbo, MD, chief medical officer of Illumina. “We are thrilled to provide continued support through the Illumina matching challenge and hope to inspire a diverse network of community contributions while providing the financial support critical to sustaining the EBG Program.”

Just days after the matching challenge was announced, Invitae, another ACMG Foundation Corporate Partner, made a commitment of $100,000 to the Illumina/ACMG Foundation $200K Challenge, securing half of Illumina’s total pledge for the program.

Similarly, Evan and Cindy Jones of Teton Village, Wyoming, heard of the challenge and immediately provided a single matching contribution covering the individual donor portion of the $200K Challenge. Mr. Jones serves on the Board of Directors for the ACMG Foundation and is the Managing Member of jVen Capital, LLC. Jones said, “Cindy and I were excited to support the development of evidence-based guidelines. This work clearly helps improve patient care for those suffering from genetic disorders. It is even more exciting to know this contribution was doubled by Illumina.”

ACMG Foundation staff are working hard to identify donor companies who are willing to step up and support the last two $45,000 corporate gifts that will be matched by the Illumina sponsorship. Once found, this additional $180,000 will greatly strengthen the development of new evidence-based guidelines in 2021.

A third company, BioMarin Pharmaceuticals, did support the EBG Program with a $150,000 gift, but this donation occurred prior to Illumina’s pledge.

At present, the ACMG Foundation is on track to raise the $1 million needed annually to fully roll out this new EBG Program in 2021.

“The ACMG Foundation’s Guideline Development Fund will enable ACMG to hire a team of qualified methodologists and medical experts,” said ACMG’s CEO Max Muenke, MD, FACMG. “These highly skilled employees can then undertake the time-intensive work of systematic evidence review and guideline development, in partnership with volunteer teams of ACMG members and senior leaders. The ACMG Foundation’s role as the fundraising arm of ACMG ensures a firewall between the science

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Fred Hutch researchers uncover new genetic details of White House COVID-19 outbreak

Since it was revealed in early October, details about President Trump’s COVID-19 infection have been in short supply, including the likely source of his exposure and when he was tested.



a group of people standing in front of a building: Judge Amy Coney Barrett delivers remarks after President Donald Trump announces her nomination to the U.S. Supreme Court, Sept. 26, 2020, in the Rose Garden of the White House. The event is believed to be responsible for the spread of COVID-19 among some attendees. (Official White House Photo by Andrea Hanks, Public Domain )


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Judge Amy Coney Barrett delivers remarks after President Donald Trump announces her nomination to the U.S. Supreme Court, Sept. 26, 2020, in the Rose Garden of the White House. The event is believed to be responsible for the spread of COVID-19 among some attendees. (Official White House Photo by Andrea Hanks, Public Domain )

New research from the Fred Hutchinson Cancer Research Center in Seattle gives a glimpse into the spread of the disease among America’s first family and White House staff and guests.

Two journalists who directly interacted with White House officials at the end of September — but were not in each other’s company — contracted variations of the virus that were “highly genetically similar.” The genetic code from the SARS-CoV-2, the virus that causes COVID, that infected the journalists contained five unique mutations and were distinct from the genomes of more than 160,000 publicly available virus sequences.

The scientists said this particular lineage of the virus was first documented in the U.S. in April or May, but its exact spread from there was unclear.

Shortly after Trump was infected, Anthony S. Fauci — the nation’s top infectious-disease expert — said that the White House had been the site of a so-called super spreader event when it hosted a Rose Garden reception for Judge Amy Coney Barrett, now a member of the U.S. Supreme Court. Photos show that many in attendance did not wear masks. At least 50 COVID-19 cases have been connected to an outbreak associated with the White House, according to the researchers.

Trump Administration officials at the time of the outbreak made little effort to do contact tracing to potentially help contain the spread — a decision that drew criticism from some health experts.

When it comes to the source of the White House infections, “it’s sort of an unknowable question, where it entered the environment,” said White House deputy press secretary Brian Morgenstern, in a press conference on Oct. 7.

The Fred Hutch-led research calls that assertion into question. While it’s too late to use the information to limit spread from the initial event, genomic sequencing could provide additional insights into the path of transmission if more samples were tested. It could also help build a more complete picture of the outbreak’s spread by analyzing infections that occur weeks or months following the White House event.



chart: Researchers at the Fred Hutchinson Cancer Research Center have created a family tree for SARS-CoV-2, the virus that causes COVID-19, and identified the form associated with the White House outbreak. (Fred Hutch Image)


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Researchers at the Fred Hutchinson Cancer Research Center have created a family tree for SARS-CoV-2, the virus that causes COVID-19, and identified the form associated with the White House

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Tests Show Genetic Signature of Coronavirus That Likely Infected Trump

President Trump’s illness from a coronavirus infection last month was the most significant health crisis for a sitting president in nearly 40 years. Yet little remains known about how the virus arrived at the White House and how it spread.

The administration did not take basic steps to track the outbreak, limiting contact tracing, keeping cases a secret and cutting out the Centers for Disease Control and Prevention. The origin of the infections, a spokesman said, was “unknowable.”

But one standard public health technique may still shed some light: tracking the cluster’s genetic fingerprints.

To better understand the outbreak, The Times worked with prominent geneticists to determine the genetic sequence of viruses that infected two Times journalists believed to been exposed to the coronavirus as part of their work covering the White House.

The study reveals, for the first time, the genetic sequence of the virus that may have infected President Trump and dozens of others, researchers said. That genome is a crucial clue that may allow researchers to identify where the outbreak originated and whether it went on to infect others across the country.

The White House has not disclosed any effort to conduct similar genetic testing, but the study’s results show that it is still possible, even weeks after positive tests. Additional sequencing could help establish the path of the virus through the White House, the role of a possible super-spreading event for Judge Amy Coney Barrett and the origin of an outbreak among the staff of Vice President Mike Pence in the last week or so.

The journalists, Michael D. Shear and Al Drago, both had significant, separate exposure to White House officials in late September, several days before they developed symptoms. They did not spend any time near each other in the weeks before their positive tests.

Mr. Shear traveled with Mr. Trump and other staff on Air Force One on Sept. 26, when Mr. Trump approached within five or six feet without a mask. Mr. Drago covered the Judge Barrett event that day and a news conference the next day near officials who were not wearing masks and later tested positive.

The viral genomes of the two journalists shared the same distinct pattern of mutations, the research found. Along with their exposure history, the findings suggest that they were infected as part of the broader White House outbreak, said Trevor Bedford, a geneticist at the Fred Hutchinson Cancer Research Center and the University of Washington who led the research team.

“These mutations that are possessed by these viruses are quite rare in the United States,” Dr. Bedford said. “I am highly convinced that these viruses come from the same outbreak or cluster based on their genomes.”

The study, which has been posted online but not yet peer reviewed or published in a science journal, followed academic protocols that require genetic samples to be anonymous. Mr. Shear and Mr. Drago chose to disclose their identities for this article.

Viruses constantly mutate, picking up tiny, accidental alterations

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