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What is FSHD? (video)
Differences between FSHD1 & FSHD2 (video)
What is FSHD1+2? (video)
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
FSHD genetics (video)
Intro to FSHD genetics
- Model for FSHD1 and FSHD2
- Introduction to FSHD (simplified version): FSHD (Webpage | PDF), FSHD1 and FSHD2
- Introduction to FSHD (advanced version): FSHD1 and FSHD2
Types of FSHD
- Model for FSHD1 and FSHD2
- FSHD1, including infantile (early-onset) is caused by deletions in the D4Z4 array
- FSHD2 is caused by mutations in other genomic locations.
- Differences between FSHD1 and FSHD2: English and Español
FSHD inheritance
Permissive vs. nonpermissive
- FSHD permissive genetics (simplified explanation)
- FSHD permissive vs. nonpermissive (advanced explanation)
- What is epigenetics? (comprehensive video)
- What is epigenetics? (short video)
- What is epigenetic research testing? (video)
- Preimplantation Genetic Diagnosis (video)
CRISPR inhibition system for FSHD (video)
Major breakthrough in gene therapy for neuromuscular diseases (video)
Overview of therapeutic approaches
CRISPR
- Learn about CRISPR technology applicable to FSHD.
- Scalpel or Straitjacket: CRISPR/Cas9 Approaches for Muscular Dystrophies.
- See the original CRISPR-inhibition work by Dr. Charis Himeda, PhD.
- Read about the next step toward taking CRISPR inhibition to the clinic.
- Gene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD?
RNAi (RNA interference)
- RNAi overview.
- Read the paper about a new potential antisense RNA gene therapy strategy from Dr. Scott Harper.
ASO (antisense oligonucleotide)
Inducible DUX4 mouse model for FSHD (video)
FSHD minipigs (video)
Overview of FSHD model organisms
Mice
- Mouse model overview
- FLExDUX4 FSHD-like mouse
— A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy
— Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity - Human FSHD xenograft mice
— Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy
Minipig (porcine)
Other model organisms
- Scientific research project aims to improve FSHD diagnostics, better understand genetics and epigenetics of FSHD
- Groups/Individuals who have donated to Peter and Takako Jones Lab to support costs associated with this FSHD research testing
- Saliva-based diagnostic test available at no cost to participants
- How to collect your saliva (video in Spanish)
UNDERSTANDING YOUR TEST RESULTS & METHYLATION
- Explanation of each piece of the report (for tests done in/after May 2021)
- Explanation of each piece of the report (for tests done before May 2021)
- What is DNA methylation?
- Learn what your methylation numbers mean. Video | PDF
- What the 4AL on your test results indicates
- Understanding your test results (video – short version) (for tests done in/after May 2021)
- Understanding your test results (video – full version) (for tests done in/after May 2021)
- Understanding your test results (video – short version) (for tests done before May 2021)
- Understanding your test results (video – full version) (for tests done before May 2021)
- Your FSHD family pedigree (video)
- Mosaic for FSHD (video)
- Original research paper: Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
- What is FSHD epigenetic research testing? (video)
- Why/How this FSHD epigenetic research testing is accessible around the globe at no cost to individuals (video)
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
Differences between research testing and CLIA-certified testing (video)
Introduction of FSHD diagnostics
FSHD1 D4Z4 deletion testing techniques
- PFGE and Southern blotting
- Molecular combing
- Single-molecule optical mapping
- Summary of FSHD1 testing: Southern blotting vs. molecular combing vs. single-molecule optical mapping
MAP SHOWING WORLDWIDE PARTICIPATION IN JONES LAB FSHD RESEARCH TESTING
