gene therapy

June 2019 Review with Nathan and Laura: Gene Patents, Grail, Dr. Lynch

Nathan and Laura join Theral for our final review show before the summer break. Have you already headed out on vacation? Take us along and stay current with the top stories in genomics.

This month it's gene patents (yes, Congress is really reviving that debate), another gene therapy with another astronomical price tag, and remembering Dr. Henry Lynch of Lynch Syndrome fame.

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.”

Connecting the Dots for a Community of Rare Disease Patients: Terri Klein, MPS Society

The MPS Society is a rare organization. Not just because it is an umbrella for the rare diseases that have in common lysosomal storage malfunction. But because it is one of the largest rare disease organizations in the world.

Terri Klein is the CEO leading the MPS Society. She says the group has over three thousand members on their roster. This brings some strength and resources in an area where low numbers intensifies an uphill battle.

Her job, she says, is to find those researchers out there working on the various MPS diseases--Hunter’s, Sanfillippo syndrome and about a dozen others--and make sure any and all science toward understanding, therapy and cures gets shared and developed. She "connects the dots" between research, funding, trial experts, parents and patients. Beyond the science and medicine, Terri says about half of her budget goes to care of patients.

So what is the state of existing therapies for these diseases now, and how close are we today to gene editing and gene therapy cures?

Terri has been instrumental in the creation of ConnectMPS, a very successful disease registry for MPS patients. What are her thoughts on how to make rare disease registers more impactful?

October 2018 Review with Nathan and Laura: ASHG Does Race, Parents Do Gene Therapy, Unsung Demons

As an election nears, the question of race and genetics has been front and center. It even prompted ASHG to take the unusual step of making a group wide statement. The three of us agree: scientists should talk more about the race question with non-scientists.

Two papers in Tech Review this month show that the world of people buying cures and disease prevention through gene editing isn’t around the corner, it’s here. Now what about those who can’t afford it? One of the papers was written by our very own Laura Hercher.

For the Halloween special, Nathan talks bugs, as in microbes, connecting many of this past month’s Nobel prizes in science to discoveries about bacteria—including the one in medicine.

Zinc Finger Nucleases (ZFNs) with Sigma's Dave Smoller, Supriya Shivakumar

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Dr. Dave Smoller, CSO, Sigma Life Science Bio and Contact Info

Dr. Supriya Shivakumar, Global Marketing Manager, Sigma Life Science Bio and Contact Info

ZFN technology and products Listen (9:42) ZFN technology and products

A game changer Listen (2:09) "A game changer"

Rats better than mice for studying neural diseases Listen (3:42) Rats better than mice for studying neural diseases

Improvement in products Listen (2:12) Improvement in products

Why buy when researchers can make their own? Listen (3:00) Why buy when researchers can make their own?

Revival of gene therapy Listen (6:24) Revival of gene therapy?

Recent study on hemophilia Listen (5:59) Recent study on hemophilia

Applications in AgBio Listen (7:35) Applications in AgBio

If we'd only had ZFN back when Listen (7:55) If we'd only had ZFNs back when . . .

(ZFNs) or Zinc finger nucleases are a class of engineered DNA-binding proteins that enable targeted editing of the genome. They do this by creating double-strand breaks in DNA at virtually any specific location. Through homologous and non-homologous recombination, the technology can generate precisely targeted genomic edits including gene deletions (Knockouts), integrations, or modifications. The technology holds great promise for treating human disease such as hemophilia and sickle cell anemia and may revive gene therapy. In addition the ZFNs are offering new possibilities in plant and animal research. Developed first by Sangamo Biosciences, the technology has been licensed to Sigma Life Science which they offer as their CompoZr ZFN technology.

Here to talk to us about this exciting technology and the promise of its many applications is Dr. Dave Smoller, CSO at Sigma and Supriya Shivakumar, global marketing manager for functional Genomics at Sigma. Dave was formerly president of the Research Biotech Business Unit at Sigma. Before that he founded two companies which were acquired, ProteoPlex, focused on functional genomics and Genome Systems, which offered access to Human Genome project related technologies. Supriya did graduate studies in Harold Varmus’ lab at UC San Francisco, where she used reverse genetics approaches to study oncogenes and their normal biological role in C. elegans.