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    • Research Library
    • Data Collection Program
  • News & Stories
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Research Articles

In this Resource Library, you’ll find the research on 4H Leukodystrophy all in one place. To ease you in, we’ve curated a list of the top eight video presentations and scientific papers we think are the most relevant and useful for our 4HL Families. There is a brief summary for each to give you an idea of what to expect before you dive in. If you’re new to this sort of reading, we encourage you to take a look at our Tips for Reading Scientific Papers.

Research Articles

All (9) Key Research (8)Additional Research (1)

4HL Family Call with Nicole Wolf

In this video, Dr. Nicole Wolf, a leading expert on 4H Leukodystrophy, talks to our community of #4HLFamilies.

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2020 ULF Presentation with Dr. Geneviève Bernard

In this conference presentation, Dr. Geneviève Bernard, a prominent 4H Leukodystrophy researcher, updates our current understanding of 4H.

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Leading experts including Dr. Nicole Wolf, Dr. Geneviève Bernard, and Dr. Adeline Vanderver collaborated on this academic paper from 2014.

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Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

This study compares the clinical findings, MRI features, and genetic mutations of six patients with very severe disease to typical 4H Leukodystrophy.

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POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?

In this short academic paper from 2021, the authors review what we know about the cause of 4H Leukodystrophy

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2021 ULF Presentation with Dr. Geneviève Bernard and Dr. Nicole Wolf

Dr. Bernard walks through each common 4H Leukodystrophy symptom and the corresponding management and supportive care available

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

These guidelines, and companion eBook adapted for families, offer a broader look at the care and specialists recommended for people with leukodystrophies

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POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.

This 2020 academic article explores stem cell transplantation, gene therapy, and gene editing as potential future approaches

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More on 4H Leukodystrophy

There are plenty more papers related to 4H Leukodystrophy below to explore at your own pace. They are categorized so you can find what you’re most interested in.

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4H Leukodystrophy
Research

In everything we do, we’re working to speed progress toward a cure. Learn more about our ambitious research strategy.

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Our Ethos

Our Ethos

We are driven by the dream that one day, every child with 4H Leukodystrophy will have the chance to live a long, healthy life.

So we fight for these children by acting as a catalyst and a connector—bringing researchers together to accelerate the pace of discovery, while connecting families with vital education resources and emotional support.

We won’t stop until we find a treatment and, ultimately, a cure.

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