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WHAT IS FSHD

FSHD eBook review

What is FSHD? (video)

Differences between FSHD1 & FSHD2 (video)

What is FSHD1+2? (video)

Why do we have the DUX4 gene?

Open each of the following red accordions on this page to learn about these topics: 

  • Distinct characteristics of FSHD
  • Other FSHD-related characteristics
  • FSHD genetics & epigenetics
  • FSHD pathogenic mechanisms
  • FSHD diagnostics

GENETICS & FSHD

FSHD genetics (video)

Intro to FSHD genetics

Types of FSHD

FSHD inheritance

Permissive vs. nonpermissive

EPIGENETICS & FSHD

RESOURCES

TREATMENT FOR FSHD

CRISPR inhibition system for FSHD (video)

Major breakthrough in gene therapy for neuromuscular diseases (video)

The path to a therapy

Overview of therapeutic approaches

Losmapimod

Gene therapy for FSHD

CRISPR

RNAi (RNA interference)

ASO (antisense oligonucleotide)

Myostatin inhibition

FSHD MODEL ORGANISMS

Inducible DUX4 mouse model for FSHD (video)

FSHD minipigs (video)

Overview of FSHD model organisms

Mice

Minipig (porcine)

Other model organisms

Human FSHD cellular models

RESEARCH OPPORTUNITIES

CLINICAL TRIALS

PATIENT REGISTRIES

RESEARCH PROJECT

GET YOUR TEST KIT

UNDERSTANDING YOUR TEST RESULTS & METHYLATION

Understanding your report

EPIGENETIC RESEARCH TESTING

Determining the genetics of the FSHD region

Overview of testing for FSHD using epigenetics

Testing for FSHD using epigenetics

DRS. PETER AND TAKAKO JONES, PHD

FSHD DIAGNOSTICS

Differences between research testing and CLIA-certified testing (video)

Introduction of FSHD diagnostics

FSHD1 D4Z4 deletion testing techniques

FSHD2 testing techniques

FSHD epigenetic diagnostics

Find a genetic counselor

PARTICIPANT STORIES

MAP SHOWING WORLDWIDE PARTICIPATION IN JONES LAB FSHD RESEARCH TESTING

STATS

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