Tag Archives: cell

Scientists Correct Mutated Gene that Causes Sickle Cell Disease in Stem Cells

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For the first time, scientists were able to correct the genetic mutation that causes sickle cell disease in stem cells.

In a collaborative effort, researchers at UC Berkeley, UC San Francisco Benioff Children’s Hospital Oakland Research Institute (CHORI), and the University of Utah School of Medicine fixed the mutation in modified stem cells from patients with the condition using a CRISPR/Cas9 gene editing approach.

The study, “Selection-free genome editing of the sickle mutation in human adult hematopoietic stem/progenitor cells,” was published in the journal Science Translational Medicine.

The scientists hope to re-infuse patients with the modified stem cells and alleviate disease symptoms.

“We’re very excited about the promise of this technology,” Jacob Corn, senior author on the study and scientific director of the Innovative Genomics Initiative at UC Berkeley, said in a news release. “There is still a lot of work to be done before this approach might be used in the clinic, but we’re hopeful that it will pave the way for new kinds of treatment for patients with sickle cell disease.”

The researchers observed in mice tests that after transplants, the modified stem cells stuck around for about four months, an important target of the long-lasting potential of any therapy.

“This is an important advance because for the first time we show a level of correction in stem cells that should be sufficient for a clinical benefit in persons with sickle cell anemia,” said Mark Walters, a pediatric hematologist and oncologist and director of UCSF Benioff Oakland’s Blood and Marrow Transplantation Program and co-author of the study.

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Methuselah Foundation Fellowship Award Winner Tackles Research in Macular Degeneration 

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Typically, a fellowship and participation in a research study to cure a major disease would occur years after completing undergrad, possibly even after earning a PhD. But Jennifer DeRosa is not a typical student.

As early as high school, DeRosa was already in the lab, conducting research in plant biotechnology at the College of Environmental Science and Forestry (SUNY-ESF) before graduating valedictorian from Skaneateles High School. As a freshman student at Onondaga Community College, she continued to develop skills in molecular biology, analytical chemistry, and cell biology. She logged over 1,600 hours in academic and industry laboratories while maintaining a perfect 4.0 GPA, completing her associate’s degree in Math and Science in only one year.

Although she had planned to continue to a bachelor’s program, DeRosa elected to defer enrollment after being offered a Methuselah Foundation research fellowship. “The fellowship provides distinguished students a year-long stipend to work in any laboratory of their choosing that conducts work on age-associated diseases,” said Methuselah Foundation CEO David Gobel. “We are very pleased that she chose to complete her fellowship at Ichor Therapeutics, where she has been working as a paid intern. Methuselah Foundation has a high degree of confidence in the quality and scope of work being conducted there.”

Her enthusiasm for her work has caught the attention of everyone who works with her. “Jennifer [DeRosa] has distinguished herself at every level since beginning as an intern in January,” stated Ichor’s Quality Assurance Director Scott Campbell. “We are delighted about her decision to stay on and help us drive our age-related macular degeneration program into the next stage of development, including adopting of stringent GMP and GLP regulatory requirements.”

DeRosa is excited about the research that Ichor Therapeutics is currently engaged in, as well as the opportunities to learn in areas beyond the science itself. She said, “I chose to intern at Ichor because as a startup, I knew it would allow me to explore entrepreneurship and take on a greater role than I otherwise could at a large company. Between being able to participate in board meetings, discuss legal and translational strategy with Ichor’s counsel and advisory teams, and meeting the company’s investors to better understand their expectations – Let’s just say it was a simple decision for me to remain here.”

DeRosa’s previous research at Ichor substantially and directly contributed to the company successfully raising $600,000 for its macular degeneration program earlier this summer. DeRosa was a listed author on both the research proposal and business plan, and is also listed on two pending grant applications.

Kelsey Moody, CEO at Ichor Therapeutics, noted, “The most difficult part of having her here is finding sufficient challenges. She has earned complete autonomy since her arrival. Beyond her expansive laboratory skills, she has designed her own studies, written proposals for grants, and led a small team to develop product leads for the macular-degeneration program.”

When her fellowship draws to a close, DeRosa intends to pursue a bachelor’s degree or matriculate directly into a graduate program. However, she plans to remain opportunistic. “The pace, progress, and potential impact of Ichor’s macular degeneration program is addicting. The company’s main focus now is to prepare for series A, after which, who knows what opportunities may present themselves.”