Posted on September 11th, 2018 by Dr. Francis Collins

Caption: A CRISPR/cas9 gene editing-based treatment restored production of dystrophin proteins (green) in the diaphragm muscles of dogs with Duchenne muscular dystrophy.Credit: UT Southwestern

CRISPR and other gene editing tools hold great promise for curing a wide range of devastating conditions caused by misspellings in DNA. Among the many looking to gene editing with hope are kids with Duchenne muscular dystrophy (DMD), an uncommon and tragically fatal genetic disease in which their musclesincluding skeletal muscles, the heart, and the main muscle used for breathinggradually become too weak to function. Such hopes were recently buoyed by a new study that showed infusion of the CRISPR/Cas9 gene editing system could halt disease progression in a dog model of DMD.

As seen in the micrographs above, NIH-funded researchers were able to use the CRISPR/Cas9 editing system to restore production of a critical protein, called dystrophin, by up to 92 percent in the muscle tissue of affected dogs. While more study is needed before clinical trials could begin in humans, this is very exciting news, especially when one considers that boosting dystrophin levels by as little as 15 percent may be enough to provide significant benefit for kids with DMD.

Posted In: News

Tags: animal models, beagles, Cavalier King Charles Spaniel, CRISPR, CRISPR/Cas9, diaphragm muscle, DMD, dogs, Duchenne muscular dystrophy, dystrophin, gene editing, genetic diseases, heart, muscle, muscular dystrophy, rare diseases, Somatic Cell Genome Editing

Posted on October 10th, 2017 by Dr. Francis Collins

About a month ago, I had the pleasure of welcoming the Juip (pronounced Yipe) family from Michigan to NIH. Although youd never guess it from this photo, two of the Juips five children9-year-old Claire and 11-year-old Jake (both to my left)have a rare genetic disease called Friedreichs ataxia (FA). This inherited condition causes progressive damage to their nervous systems and their hearts. No treatment currently exists for kids like Claire and Jake, yet this remarkable family has turned this serious health challenge into an opportunity to raise awareness about the need for biomedical research.

One thing that helps keep the Juips optimistic is the therapeutic potential of CRISPR/Cas9, an innovative gene editing systemthat may someday make it possible to correct the genetic mutations responsible for FA and many other conditions. So, Im sure the Juips were among those encouraged by the recent news that NIH-funded researchers have developed a highly versatile approach to CRISPR/Cas9-based therapies. Instead of relying on viruses to carry the gene-editing system into cells, the new approach uses tiny particles of gold as the delivery system!

Posted In: Health, Science, technology, Uncategorized

Tags: CRISPR, CRISPR-Gold, CRISPR/Cas9, DMD, Duchenne muscular dystrophy, dystrophin, FA, Friedreichs ataxia, gene editing, Juip, rare diseases, stem cells

Posted on July 18th, 2017 by Dr. Francis Collins

Credit: Seth Shipman, Harvard Medical School, Boston

Theres a reason why our cells store all of their genetic information as DNA. This remarkable molecule is unsurpassed for storing lots of data in an exceedingly small space. In fact, some have speculated that, if encoded in DNA, all of the data ever generated by humans could fit in a room about the size of a two-car garage and, if that room happens to be climate controlled, the data would remain intact for hundreds of thousands of years! [1]

Scientists have already explored whether synthetic DNA molecules on a chip might prove useful for archiving vast amounts of digital information. Now, an NIH-funded team of researchers is taking DNAs information storage capabilities in another intriguing direction. Theyve devised their own code to record information not on a DNA chip, but in the DNA of living cells. Already, the team has used bacterial cells to store the data needed to outline the shape of a human hand, as well the data necessary to reproduce five frames from a famous vintage film of a horse galloping (see above).

But the researchers ultimate goal isnt to make drawings or movies. They envision one day using DNA as a type of molecular recorder that will continuously monitor events taking place within a cell, providing potentially unprecedented looks at how cells function in both health and disease.

Posted In: Health, Science, Video

Tags: biosensor, biotechnology, Cas1, Cas2, CRISPR, CRISPR-Cas, DNA, DNA movie, DNA storage, E. coli, film, gene editing, genomics, Human and Animal Locomotion, imaging, information storage, molecular recorder, movie, spacers

Posted on May 4th, 2017 by Dr. Francis Collins

Jesse Dixon

As a kid, Jesse Dixon often listened to his parents at the dinner table discussing how to run experiments and their own research laboratories. His father Jack is an internationally renowned biochemist and the former vice president and chief scientific officer of the Howard Hughes Medical Institute. His mother Claudia Kent Dixon, now retired, did groundbreaking work in the study of lipid molecules that serve as the building blocks of cell membranes.

So, when Jesse Dixon set out to pursue a career, he followed in his parents footsteps and chose science. But Dixon, a researcher at the Salk Institute, La Jolla, CA, has charted a different research path by studying genomics, with a focus on understanding chromosomal structure. Dixon has now received a 2016 NIH Directors Early Independence Award to study the three-dimensional organization of the genome, and how changes in its structure might contribute to diseases such as cancer or even to physical differences among people.

Posted In: Health, Science

Tags: 2016 NIH Directors Early Independence Award, 3D genome structure, chromatin, chromatin structure, CRISPR, CRISPR/Cas9, DNA, DNA packaging, ENCODE, Encyclopedia of DNA Elements, enhancer, gene editing, genome, genomics, histones, TAD, topologically associated domains

Posted on January 24th, 2017 by Dr. Francis Collins

Caption: This image represents an infection-fighting cell called a neutrophil. In this artists rendering, the cells DNA is being edited to help restore its ability to fight bacterial invaders.Credit: NIAID, NIH

For gene therapy research, the perennial challenge has been devising a reliable way to insert safely a working copy of a gene into relevant cells that can take over for a faulty one. But with the recent discovery of powerful gene editing tools, the landscape of opportunity is starting to change. Instead of threading the needle through the cell membrane with a bulky gene, researchers are starting to design ways to apply these tools in the nucleusto edit out the disease-causing error in a gene and allow it to work correctly.

While the research is just getting under way, progress is already being made for a rare inherited immunodeficiency called chronic granulomatous disease (CGD). As published recently in Science Translational Medicine, a team of NIH researchers has shown with the help of the latest CRISPR/Cas9 gene-editing tools, they can correct a mutation in human blood-forming adult stem cells that triggers a common form of CGD. Whats more, they can do it without introducing any new and potentially disease-causing errors to the surrounding DNA sequence [1].

When those edited human cells were transplanted into mice, the cells correctly took up residence in the bone marrow and began producing fully functional white blood cells. The corrected cells persisted in the animals bone marrow and bloodstream for up to five months, providing proof of principle that this lifelong genetic condition and others like it could one day be cured without the risks and limitations of our current treatments.

Posted In: Health, Science

Tags: adult stem cells, bacteria, CGD, chronic granulomatous disease, clinical trials, CRISPR, CRISPR-Cas, CRISPR/Cas9, DNA editing, fungi, gene therapy, genetics, hematopoietic stem cells, immunodeficiency, immunology, infectious disease, inherited immuodeficiency, neutrophil, rare disease, translational medicine, X chromosome, X-linked chronic granulomatous disease

Originally posted here:
CRISPR NIH Director's Blog

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