Our CRISPR future, according to J. Doudna

The Nobel Prize for CRISPR is one of the most exciting ever assigned in chemistry and one of the most celebrated in the media, for reasons related to the invention and the inventors alike. On the one hand, the technique is changing the practice and the image of genetic engineering. On the other hand, Jennifer Doudna and Emmanuelle Charpentier are not merely great scientists; they are a success story in cracking the glass ceiling and a symbol of the strength of collaboration.

Continue reading

Breaking or fixing? A tale of two approaches for hemoglobinopathies

Painting by Hertz Nazaire

Covid19 is affecting everyone, but it has hit the sickle cell (SCD) community particularly hard. According to STAT News the pandemic has temporarily stopped clinical trials and the introduction of new drugs, besides directly impacting SCD patients who are at high risk for severe complications from Sars-Cov2 infection and may need hospital assistance for SCD pain crises.

Continue reading

Modulation better than correction. A new CRISPR paradigm is emerging

ronald-cohn3
Ronald Cohn (SickKids)

Another CRISPR step in the way out of congenital muscular dystrophy type 1A (MDC1A) is announced by Ronald Cohn and colleagues in Nature this week. This is still preclinical research in mice, but the indirect approach presented by the Canadian team holds great promise.

Continue reading

CRISPR breathes new life into fetal lungs

science traslational medicine cover

Researchers from Penn Medicine and Children’s Hospital of Philadelphia have fixed a lethal mutation in the prenatal mouse models of a rare pulmonary disease. The hope is that the approach of in utero editing described in Science Translational Medicine will work for other congenital lung diseases as well.

I asked one of the corresponding authors, Edward Morrison, scientific director of the Penn’s Institute for Regenerative Medicine, to explain what they have done and what to expect next. See Q&A below. Continue reading

Blood stem cells getting ready for editing

editing genomicoDo you remember the alarm about the cancer risks of CRISPR? According to a study published in Cell Stem Cell by Italian researchers, the DNA-damage response is not such a big problem in edited cells. At least not in hematopoietic stem cells edited with highly specific nucleases. Continue reading

Editing Duchenne. Where are we now?

Duchenne CRISPR

© STEVE GRAEPEL (“Infographic: Treating Duchenne Muscular Dystrophy with CRISPR“, The Scientist, September 2018)

In 2013, multiple labs sharpened CRISPR molecular scissors against Duchenne muscular dystrophy, using cells from patients in vitro. In 2016, the dystrophin gene was successfully edited in mice. Then last summer, Eric Olson did it in dogs . Where are we now in the struggle to cure this severe type of myopathy afflicting 300,000 boys in the world? What is still needed to move into a clinical trial? Continue reading

CRISPRing in the womb

pregnant-2640994_960_720It’s another CRISPR first: fixing a hereditary disease in utero. Scientists from Pennsylvania University and the Children’s Hospital of Philadelphia used a base editor to rescue tyrosinemia in fetal mice. “The results of this proof-of-concept work demonstrate the possibility of efficiently performing gene editing before birth, pointing to a potential new therapeutic approach for selected congenital disorders,” Avery C. Rossidis and colleagues write in Nature MedicineContinue reading

Cutting off Duchenne in dogs. How excited should we be

dogs-muscular-dystrophy

credit: Royal Veterinary College, University of London

“Exciting news! Our partner, Dr. Eric Olson and his team at Exonics published their research on increasing dystrophin restoration of 92% in the hearts of dogs. While they have a long way to go, their dramatic research gives hope to all families affected by Duchenne!”. This is how the patient advocacy group CureDuchenne announced the CRISPR breakthrough just published in Science. Continue reading