science funding


Cara O'Neill of the Cure Sanfilippo Foundation Tells Her Story

You’re a mother, and life is typical. You’re also a pediatrician. Then one day you hear that your daughter is autistic. OK. Then you get the news that, no, it’s not autism but a very rare disease called Sanfilippo Syndrome. From your training as a pediatrician you quickly think back and remember the MPS rare diseases, but nothing else prepares you for what’s ahead.

Meet today’s guest, Cara O’Neill, who shortly after she learned the real diagnosis of her daughter, Eliza, together with her husband Glenn founded the Cure Sanfilippo Foundation out of their house by launching a viral video. Today the organization includes fifty families and funds research into treatments for the disease, including a gene therapy. Their daughter was patient number one.

Not only does the foundation work on a cure and other meaningful therapies, such as a program based on regenerative medicine, but they are also working to improve diagnosis. Currently diagnostic tests for Sanfilippo are not in any newborn screening panels. This is partly because the tests are just being developed, but there is activism work to do on the political front as well. States are not allowing the tests that are developed be included because there are no approved therapies.

“Requiring a therapy to institute newborn screening is ridiculous,” says Cara.

She knows many families who have three children by the time they know about their first child having the disease because of the problem of diagnostic delay.

“Maybe their first child gets diagnosed at age five. Then they have two more children and find out, gosh, they are affected too. They could have had more informed family planning decisions available to them had they known earlier.”

Gene and Tonic Predictions for 2019

Oops.  We still had some champaign around.  Our look to the year ahead.

2019

January 6th  The best selling non-fiction book on Amazon over the holidays has some strong mature genetics related material in it.   The second chapter of  Advice for Generation Z  is entitled,  “Don’t Take that Cyanide Pill Just Yet: Genetic Tests Are for Fun, Not for Real.”

February 12th  The Oxford English Dictionary adds “Crispred babies” to the lexicon.

California Life Science Industry Steps to New Heights - the 2019 Edition with Sara Radcliffe

Sara Radcliffe can be happy--extra happy. She is the CEO of the California Life Sciences Association at a time when the state is breaking records, beating out every other state in category after category. Today Sara discusses a new report the organization has released along with PWC detailing our sector’s explosive growth. Jobs: check. Wages and revenue: check. VC funding: check. NIH funding: check. California leads in all. Big yaaaawn?

Well, no. There are some interesting trends here. For example, the report shows that Orange County has shot up as the third major life science hub for California, with strong growth coming from new digital health companies. That emerging digital health sector state wide is projected to attract a whopping $3.9 billion in VC investment in 2018 which represents nearly half of all projected life science VC investment for the year.

We talk some policy too. Last time we chatted with Sara, the trade group was actively opposing a drug pricing and transparency bill by the California legislature. Since then the bill has passed, been signed by the governor, gone into law, and two components have been implemented. What has been the outcome? Has it been all doom and gloom? And does Sara at all agree with the bipartisan calls in Washington that we need some national controls on runaway drug pricing?

Yes. She does agree.

Listen in for her position, find out about this record growth in California, and hear about a few who were honored in last week's Pantheon Awards Ceremony as the sector's best and brightest. It’s time to shine a spotlight on California.

Genomics and the 2018 Election

The last two years have had us on edge.  It had scientists marching in the street.  That was unprecedented.

So what does last week’s election mean for the genomics community?

Scientists can focus on science

A friend of mine put it this way, “When Obama was in office, I realized I’d been like a cat, relaxed and having my nap in the afternoon. When Trump was elected, I felt like a mouse, always on edge.”

March 2018 in Genomics with Nathan & Laura: DTC BRCA and Revisiting All of Us

23andMe steals the headlines yet again.

“If somebody is worried about breast cancer susceptibility in their family, they should certainly not be using this test.”

That’s our monthly commentator and genetic counselor, Laura Hercher, talking about BRCA going DTC. But wait a minute. Then she says the test could be good in some instances.

Fellow commentator Nathan Pearson cracks us up with his new term for the NIH’s All of Us Research Program. We question the big science project after the New York Times reveals that several major institutions, including Geisinger and Kaiser, are pulling out.

It’s Nathan and Laura back to offer their inside take on the lead genomic stories of the past month.

And no matter what, we won’t mention 23andMe again next month. We hope.

February 2018 in Genomics with Nathan & Laura: 23andMe Goes for the Gold, Trump Year One

Booking 26 million viewers, the voice of Warren buffet, the endorsements of Olympians Joey Cheek and Tara Lipinski—this company was going for the gold with their ads during the Olympics this year. Of course, we’re talking of the direct-to-consumer genetic testing company, 23andMe. What was the take of our monthly commentators, Nathan Pearson of Root and Laura Hercher of Sarah Lawrence College?

Also, for all the doomsday predictions, has Donald Trump been any worse after one year for our industry than the biohacker?

Join us for this month’s look back over the headlines.

George Church on What Comes After CRISPR

George Church joins us today. He’s the Robert Winthrop Professor of . . . . well, he’s George Church. And he confirms that, yes, a movie called “Woolly" is being made about his lab. In the next breath, he reminds us (and himself?) that less than 1% of his press is about the woolly mammoth.

George was honored this year as one of Time Magazine's "Time 100 List", and we’re curious about what topics of conversation come up when he’s with non-scientists. What does he think of Trump (or what he calls “the new politics”)? Is he tempted to join the wave of scientists running for office?

“In China, about 80% of their top government officials have a degree in science or engineering, while in the United States it's closer to 1%,” he deadpans.

We cover some scientific ground today as well. George says CRISPR has been overhyped as the step between Zinc Fingers/Talens and the next gene editing tool. So what is the next CRISPR? And what ever came of his 3-D sequencing?

Enjoy.

Is Population Medicine Failing Us? Michel Accad

Is health the same thing for an individual as it is for a population? This question goes to the foundation of how we practice medicine today and that of most of genomic research.

Michel Accad is a cardiologist in San Francisco and the author of a new book, Moving Mountains: A Socratic Challenge to the Theory and Practice of Population Medicine, in which he uses Socrates to spar with Geoffrey Rose, a British physician and one of the architects of modern medicine.

As early as the 1950’s, Rose advocated for the idea that individuals should be treated based on bell curves of an entire population, essentially risk based medicine. This philosophy would lie at the heart of not only the British National Health Service but many public health programs. It informed the famous Framingham studies here in the U.S. In fact, the term “population medicine” is a very positive term for those working in healthcare today. Genomic medicine has been an outgrowth of population medicine.

Michel says this philosophy is failing us at the level of individual health. Third party payers, be they governments or insurance companies, are in their offices working a system based on large datasets. They develop algorithms using all kinds of risk studies. But these payers have little to no contact with the actual patients. Ironically, he says, we call it personalized medicine. Michel points to hypertension, a disease area where sixty years after Rose pushed for risk studies, cardiologists are still divided into camps over whether to treat a patient if their blood pressure lies above the average. Michel argues that population medicine is utilitarian and ultimately utopian. What are framed as scientific studies are really social engineering.

What about clinical trials, we ask Michel. Don't population studies bring doctors and patients many good drugs?

In the second half of the interview, Michel points out that a mechanistic view of biology dominates clinicians and scientists today. It’s true. Our guest last week, a well known geneticist from Stanford, compared people to cars, arguing for the need to wear health data gathering sensors.

"Right now among philosophers of science, there’s a recognition that “mechanism” is inadequate to explain cellular organisms."  The study of biology also has often been developed with tautologies, he says.  "For example, say you’re studying the beaver and you ask what is a beaver. The standard answer is to go to the genetic sequence. From the genetics, you say you have a beaver. But you have to know what beavers are in the first place in order to study a beaver. It’s a circular argument."

So what other models might we use in biology? And what can we do in healthcare if we’re not using large population studies--go back to blood letting?

Over $1 Billion Invested this Past Year: Synthetic Biology in 2017 with John Cumbers

What does it take to make it in synthetic biology in 2017?

Working as a bio engineer at NASA, John Cumbers founded SynBioBeta, the primary “activity hub” for the synthetic biology community. SynBioBeta will be putting on their sixth conference this year in San Francisco, along with conferences in London and Singapore. The young industry has seen a flourish of startups working on new genome engineering tools and a dizzying array of applications that include synthetic animal meat and synthetic human skin. Last month John partnered with Data Collective to launch a new seed stage fund for this space.

John is not only interested in startups. Currently writing a book with the working title, “What’s Your Bio Strategy?”, he is provoking existing companies to consider using biology as technology.

“The book is designed to be something we could take into [Apple CEO] Tim Cook’s office, and ask him what’s your bio strategy. And he says, 'I don’t have a bio strategy.' So you put the book on his desk and say give me a call if we can help you to develop one.”

When we first talked with John, he was heading up a program at NASA to develop building materials for use on Mars. Five years later, is John's number one goal in life still to settle the solar system?

With 50 Million Users, Is Academia.edu Speeding Up Science?

Today we follow up with Richard Price, the founder and CEO of the most popular social sharing site for the academic sector, Academia.edu. When we talked to Richard almost five years ago, the site had 1.5 million users, mostly academics sharing their own papers so that their peers had access without any paywalls. Today the site boasts over 50 million users and serves as a laboratory for the future of academic publishing.

It’s not hard to understand the site's phenomenal growth. Weathering the hit back by Elsevier and other prestige publishing houses, Academia.edu has been able to open up access to millions of scholarly papers which otherwise would not have been accessible. And the papers are not only available to academics. Anyone can get an account for free. Richard recently found a farmer from Sub-Saharan Africa downloading a paper on water conservation.

In addition, many users now choose to publish on the site rather than with an established journal. An emeritus professor at Berkeley told Richard this:

“If I publish in a journal, it takes two years to come out and seventeen people read the paper. If I upload to Academia, I get 100 views in the first week."

It's a success story in terms of uptake by the scholarly sector, but what does this success mean to Richard and the company, and to its users and the future of publishing?

So far revenue sources are limited. Experiments with a premium service have had mixed results with users pushing back and arguing that "open access to scholarship should be a human right, not a business model." How will the site, which requires huge infrastructure, sustain itself?

Richard said before that the site could speed up science. Has it?

Join us behind the scenes with the mastermind of Academia.edu.



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