Research
DHX30 Syndrome is a newly discovered disorder published as of 2017 [2,3] and what we know about this gene and disorder are limited.
Our Foundation is dedicated to changing that.
This content has been reviewed and verified by Dr. Ali Rosenberg, PhD, as of February 2026.
Past Research on DHX30
Click or tap to enlarge this timeline of DHX30 research publications.
For more detail, browse the scientific literature regarding DHX30.
What is already understood about DHX30?
DHX30 encodes a DExH helicase, a type of RNA helicase enzyme. RNA helicases unwind double stranded sections of RNA or RNA/DNA hybrids and help restructure RNA/protein complexes [1,6,7]. A typical RNA will require the activity of several different helicases, each helicase specifically required for precise gene expression and RNA metabolism. It is thought that neurons may have more exacting requirements for proteins involved in RNA metabolism than non-neuronal cells, leading to neurodevelopmental disorders in individuals with pathogenic mutations in many of the genes involved in RNA metabolic processes [1,7].
DHX30 is expressed in the brain from embryonic periods at least through 6 years of age, according to the Human Brain Transcriptome database [1]. DHX30 is a processive helicase that unwinds double stranded RNA as it moves [1,6]. DHX30 is thought to affect stress granules, which are large protein/RNA complexes in the cytoplasm where mRNAs are sequestered during translation shutdown events resulting from cellular stresses1,3,5. DHX30 is active in cytosol and mitochondria [4,5] and is thought to link mitochondrial function, ribosome biogenesis, and global translation [5]. Some DHX30 protein is localized to mitochondrial RNA granules and plays a role in RNA processing and biogenesis of mitochondrial ribosomes [4].
Heterozygous missense, frameshift, and nonsense DHX30 variants are seen in humans [1-3]. DHX30’s RNA helicase activity is disrupted by missense variants in its helicase core motifs by impairing either its ATPase activity or RNA binding ability [1,2]. It appears that stress granules form aberrantly when DHX30 is mutated, reducing global translation [2,3,5].
For additional information about DHX30 Syndrome, check out our About DHX30 page.
We work closely with scientists, clinicians, and partner organizations to accelerate discovery and share knowledge.
For the most up-to-date list of ongoing DHX30 studies, Contact Us.
Ongoing & Rare Remy Foundation Research
Rare Remy Foundation Research Initiatives
We believe that investing in DHX30 research is the key to better understanding wild-type and mutated DHX30 and developing therapeutics for DHX30 Syndrome.
Below are the research projects we have initiated since 2025.
Therapeutic Development of Antisense Oligonucleotide (ASO) Initiated with the n-Lorem Foundation
The n-Lorem Foundation will analyze Remy’s DNA to make an RNA treatment called an antisense oligonucleotide (ASO). This will be designed to address the defect caused by Remy’s DHX30 variant and administered by Remy’s doctor and sponsor, Dr. Wendy Chung (Boston Children’s Hospital). n-Lorem’s ASOs may be usable on a subset of other individuals with DHX30 variants, even if their variant is different from Remy’s. To learn more about n-Lorem and its technology, check out, check out the n-Lorem YouTube channel. We encourage other DHX30 families to apply through their doctor.
DHX30 Mouse Model with The Jackson Laboratory & Phenotyping
Mouse models of disease are critical to researchers who wish to study and cure disorders. We are collaborating with The Jackson Laboratory, who will engineer and characterize a mouse model of Remy’s DHX30 variant. This mouse model of DHX30 Syndrome will be characterized and made publicly available to researchers around the world. To learn about what a mouse model is and used for, watch this short video entitled What is a mouse model? from The Jackson Laboratory.
Biobank with COMBINEDBrain at the Van Andel Institute
Biological samples from humans are critical for making discoveries in health and disease. We established the first-ever DHX30 patient community-owned biobank with COMBINEDBrain at the Van Andel Institute.
With its specialized facilities and devotion to speeding the path to clinical treatments for people with rare genetic neurodevelopmental disorders, COMBINEDBrain is making the basic tools of science readily available to researchers who want to study DHX30 syndrome, develop tools to accelerate research, and test therapeutics. To donate a sample to our DHX30 biobank, check out our For Families page.
Identifying Potential Repurposed Drugs with Unravel Biosciences rareSHIFT
Repurposed drugs are drugs or supplements approved for one use, but have unintended effects in the body that might be useful in other diseases (e.g., Benadryl is made to treat allergies, but its side effects make it an effective off-label sleep aid).
Using their proprietary system analyzing RNA, Unravel Biosciences rareSHIFT is identifying repurposed drugs that might make a difference for patients with DHX30 syndrome.
Pilot Investigations at Leading U.S. Research Institutions
There are many unknowns about the DHX30 gene and DHX30 Syndrome. We are identifying and supporting researchers and clinicians who care about our mission to advance understanding of DHX30 disease mechanisms and find therapeutic targets.
Scroll down to view our DHX30 research tools, research needs, and how you can get involved in DHX30 research. Stay in touch as we solidify partnerships and are able to share more from our scientists.
Available DHX30 Research Tools & Models
| Tool | About | Availability |
|---|---|---|
| DHX30 Mouse Model | Humanized p.Arg782Trp variant | In progress at The Jackson Laboratory |
| Other variant | Available from researchers | |
| iPSC lines |
|
p.Arg782Trp line and control line in progress, other additional lines available from researchers |
| Long Read DNA Sequence | Patient long read sequence | Available |
| RNAseq Dataset | Patient RNAseq dataset, multiple timepoints | Available |
| Repurposed Drug Candidates | List of untested candidate molecules | Available |
For inquiries into DHX30 tools & models, Contact Us.
Research Needs
DHX30 is still full of unanswered questions, and your expertise could help change that.
Explore a sampling of our research questions below. If one aligns with your interests or sparks a new idea, we’d love to connect. Reach out today to Contact Us, and don’t forget to check out our Grants Program.
Basic Biology
Which cell types are most affected by DHX30 mutations in the CNS?
What is the effect of a missense mutation in DHX30?
Do missense mutations result in a loss of function and haploinsufficiency, or can missense mutations have a dominant negative effect?
Are there differences in allele expression between wild type and mutant alleles?
What assays best evaluate the function of DHX30 and the different DHX30 variants?
What proteins and RNAs interact with DHX30?
Therapeutic Investigation
Could increased expression of wild type DHX30 fix a loss of function variant?
Could increased expression of wild type DHX30 overcome the issues caused by dominant-negative DHX30?
Is it possible to over-express DHX30 to toxic levels?
Could proteins or RNA that interact with DHX30 become alternative targets for therapeutics?
What methods can be used to screen for novel drug compounds?
What methods can be used to screen for repurposed drug compounds?
What are the best model systems for evaluating, screening, and testing potential therapeutics?
What would be a good biomarker for evaluating efficacy of a therapeutic?
What You Can Do
If you’re a researcher, clinician, or student driven to advance neurodevelopmental science, now is the time to join us.
Each insight brings us closer to helping our global cohort of DHX30 patients.
Citations
Lederbauer, et al. “RNA Helicases in Neurodevelopmental Disorders.” Frontiers in Molecular Neuroscience (2024): 1414949. DOI: 10.3389/fnmol.2024.1414949
Mannucci, Ilaria, et al. “Genotype–Phenotype Correlations and Novel Molecular Insights into the DHX30-Associated Neurodevelopmental Disorders.” Genome Medicine 13 (2021): 90. DOI: 10.1186/s13073-021-00900-3
Lessel, Davor, et al. “De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.” The American Journal of Human Genetics 101 (2017): 716–724. DOI: 10.1016/j.ajhg.2017.09.014
Antonicka, Hana, et al. “Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis.” Cell Reports 10 (2015): 920–932. DOI: 10.1016/j.celrep.2015.01.030
Bosco, Bartolomeo, et al. “DHX30 as a Potential Vulnerability in Cancer Cells.” Cancers 13, no. 17 (2021): 4412. DOI: 10.3390/cancers13174412
Dörner, Kerstin, and Maria Hondele. “The Story of RNA Unfolded: The Molecular Function of DEAD- and DExH-Box ATPases and Their Complex Relationship with Membraneless Organelles.” Annual Review of Biochemistry 93 (2024): 79–108. DOI: 10.1146/annurev-biochem-052521-121259
Fiorenzani, Chiara, et al. “DEAD/DEAH-Box RNA Helicases Shape the Risk of Neurodevelopmental Disorders.” Trends in Genetics (2024). Advance online publication. DOI: 10.1016/j.tig.2024.12.006