Personal Genetics Education Project

In the news: Potential new approach to gene therapy for sickle cell disease

Last week, research published in the journal Nature demonstrated an approach based on the hot new gene editing technology, CRISPR, that might one day be used to treat sickle cell disease (SCD). (“CRISPR Exploits Vulnerability of Sickle Cell Disease,” Genetic Engineering and Biotechnology News.)

SCD is a debilitating genetic disorder that affects millions worldwide, mostly those of African descent, and is caused by a mutated form of the oxygen-carrying hemoglobin (Hb) proteins in red blood cells (RBCs). The mutated Hb proteins bind together abnormally and cause RBCs to become sickle-shaped and rigid, get stuck in blood vessels and lead to excruciating pain.

In this study, a team led by Harvard scientists Stuart Orkin and Daniel Bauer and MIT biologist Feng Zhang used CRISPR to delete part of the regulatory DNA sequences for the gene BCL11A, which is responsible for “switching off” the fetal form of Hb. Normally, fetal Hb is active until a baby is about one year old, when the adult form of Hb kicks in and takes over. The SCD mutation occurs in adult Hb. So, by switching off the regulator that switches off fetal Hb, this functional form of Hb can be turned backed on in adults suffering from SCD.

While this study’s results are promising, much work will still need to be done before this approach can be safely used to treat SCD patients.

Currently, there is only one FDA-approved drug for SCD – hydroxyurea, a chemo drug that also works by increasing the number of RBCs with fetal Hb. Though hydroxyurea has led to good clinical outcomes, it doesn’t work for all SCD patients, and there are also some potential side effects when taken long-term. Another drug, which helps “unstick” the mutant Hb and prevent RBC sickling, is currently in clinical trial, while an experimental gene therapy that works by delivering a healthy copy of the Hb gene into the patient’s blood-making stem cells also reported positive results earlier this year.

Upcoming Events

Nov 09

National Association of Biology Teachers annual conference

November 9 - November 12
Saint Louis MO
United States
Jan 25

CRISPR Workshop III: Public outreach, education, and engagement

January 25, 2018 - January 27, 2018
Berkeley CA
United States

In the News

As we finish up another week of Teaching the Genome Generation at the Jackson Lab in Bar Harbor Maine, teachers are excited to receive a copy of David Epstein's "The Sports Gene". pgEd loves leading the social and ethical dimension of this annual professional development course. Looking for some summer reading? Check out pged.org/book-corner/ ... See MoreSee Less

Posted by pgEd 2 months ago

As we finish up another week of Teaching the Genome Generation at the Jackson Lab in Bar Harbor Maine, teachers are excited to receive a copy of David Epsteins The Sports Gene. pgEd loves leading the social and ethical dimension of this annual professional development course.  Looking for some summer reading? Check out http://pged.org/book-corner/

What a wonderful three days at our Summer Institute! Thanks to our friends at Brockton High School for hosting us, and to all the teachers who came and shared their energy, passion and ideas. There will be lots for pgEd to get inspirations from as we develop our new unit of lessons on genetics and identity.
See everyone at our next workshop in Boston in less than two weeks!
... See MoreSee Less

Posted by pgEd 3 months ago

What a wonderful three days at our Summer Institute! Thanks to our friends at Brockton High School for hosting us, and to all the teachers who came and shared their energy, passion and ideas. There will be lots for pgEd to get inspirations from as we develop our new unit of lessons on genetics and identity.
See everyone at our next workshop in Boston in less than two weeks!

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