• HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
Monday, September 8, 2025
BIOENGINEER.ORG
No Result
View All Result
  • Login
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
No Result
View All Result
Bioengineer.org
No Result
View All Result
Home Headlines

A ‘CRISPR’ view of Sturge-Weber syndrome is coming into focus

Bioengineer.org by Bioengineer.org
January 31, 2018
in Headlines, Health, Science News
Reading Time: 2 mins read
0
Share on FacebookShare on TwitterShare on LinkedinShare on RedditShare on Telegram
IMAGE

Credit: Bischoff lab/Boston Children's Hospital

Three-dimensional modeling and CRISPR-Cas9 gene editing technology are giving scientists a new view into Sturge-Weber syndrome, a rare congenital disorder that causes small blood vessels, called capillaries, to be malformed. These capillary malformations can cause port wine birthmarks on the face and neck, and in some cases, abnormal vasculature in the brain that can spark seizures.

Last year, a Boston Children's Hospital research team — led by Joyce Bischoff, PhD, of the Vascular Biology Program — discovered that the genetic mutation responsible for Sturge-Weber syndrome dwells in endothelial cells lining the affected capillaries in the brain. The team had previously found the same mutation present in the endothelial cells of skin capillaries of patients' port wine birthmarks.

Together, their studies suggest that mutated endothelial cells could be causing surrounding cells to behave abnormally.

To explore this emerging hypothesis, Bischoff's team is seeking lifelike ways of mimicking these hallmark capillary malformations in the laboratory. Their goal is to use microfluidic chip technology to grow 3D, physiologically-relevant vascular networks containing the syndrome's genetic mutation, called GNAQ R183Q.

With fellowship support from the Sturge-Weber Foundation, Colette Bichsel, PhD, a Boston Children's research fellow in Bischoff's lab, is using her expertise in microvasculature modeling to build the 3D models of capillary malformations inside microfluidic chips made of silicone.

Bischoff's team is also looking for better ways to create the mutant cells that seed the 3D models.

"One strategy we are investigating is the use of the CRISPR-Cas9 gene editing system to replicate the GNAQ R183Q mutation in human cell lines," says Bichsel.

So far, these studies have revealed some surprising results about the way endothelial cells develop with the GNAQ R183Q mutation.

"We have much more work to do, but it seems as though mutated cells grow slower than normal ones," says Bichsel. "Perhaps this helps explain why we see disorganized vasculature in the capillary malformations of people with Sturge-Weber syndrome."

Although their data are too preliminary to draw any conclusions, Bischoff's team is hopeful that an improved platform for modeling capillary malformations will unlock new insights into the syndrome's underlying mechanisms.

"We're thrilled to continue our lab's partnership with the Sturge-Weber Foundation on this research," says Bischoff. "Our ultimate hope is that this research lays the groundwork for new therapies that can prevent these capillary malformations from developing to a point where they are detrimental to patients' quality of life."

###

Media Contact

Keri Stedman
[email protected]u
617-919-3110
@BostonChildrens

http://www.childrenshospital.org/newsroom

Original Source

https://vector.childrenshospital.org/2017/11/crispr-3d-sturge-weber-syndrome/

Share15Tweet8Share2ShareShareShare2

Related Posts

Impact of Weight Bias on Diabetes Healthcare Experiences

September 8, 2025

IU Scientists Reengineer Cancer-Protective Regulatory T Cells to Combat Tumors

September 8, 2025

Revolutionizing Small-Sample Multi-Unit Pharmaceutical Manufacturing: AI-Integrated IQPD Framework Elevates Quality Prediction and Diagnostics from Experience-Driven to Data-Driven Approaches

September 8, 2025

Identifying Candidate Genes in CAVD Without CFTR Mutations

September 8, 2025
Please login to join discussion

POPULAR NEWS

  • blank

    Breakthrough in Computer Hardware Advances Solves Complex Optimization Challenges

    151 shares
    Share 60 Tweet 38
  • New Drug Formulation Transforms Intravenous Treatments into Rapid Injections

    116 shares
    Share 46 Tweet 29
  • First Confirmed Human Mpox Clade Ib Case China

    56 shares
    Share 22 Tweet 14
  • A Laser-Free Alternative to LASIK: Exploring New Vision Correction Methods

    47 shares
    Share 19 Tweet 12

About

We bring you the latest biotechnology news from best research centers and universities around the world. Check our website.

Follow us

Recent News

Impact of Weight Bias on Diabetes Healthcare Experiences

IU Scientists Reengineer Cancer-Protective Regulatory T Cells to Combat Tumors

Revolutionizing Small-Sample Multi-Unit Pharmaceutical Manufacturing: AI-Integrated IQPD Framework Elevates Quality Prediction and Diagnostics from Experience-Driven to Data-Driven Approaches

  • Contact Us

Bioengineer.org © Copyright 2023 All Rights Reserved.

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • Homepages
    • Home Page 1
    • Home Page 2
  • News
  • National
  • Business
  • Health
  • Lifestyle
  • Science

Bioengineer.org © Copyright 2023 All Rights Reserved.