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A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.
ResearchLimited published research (2 articles)
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for ACD-related telomere biology disorder.
2 publications have been identified in PubMed for ACD-related telomere biology disorder. Research spans Review / Meta-Analysis (100%).
Recent Publications
Savage SA (2025). [PMID: 39462986](https://pubmed.ncbi.nlm.nih.gov/39462986/). *Br J Haematol*. [Review / Meta-Analysis]
Rolles B (2024). [PMID: 39371255](https://pubmed.ncbi.nlm.nih.gov/39371255/). *Transfus Med Hemother*. [Review / Meta-Analysis]
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC
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FAQ
Frequently Asked Questions
Common questions about ACD-related telomere biology disorder
ACD-related telomere biology disorder is a condition caused by a change in the ACD gene. This gene variant leads to abnormal telomere biology, which is a complex set of inherited issues. Telomeres are protective caps at the end of chromosomes, and changes in how they work can affect cell function and stability.
People with this condition may experience a range of effects due to these underlying cellular changes. The condition is part of a broader group of inherited disorders and highlights the importance of genetic factors in health. Information about detailed clinical presentations is currently limited for this condition.
Information about symptoms is currently limited for this condition.
This condition is caused by a pathogenic variant in the ACD gene. The change in this gene affects telomere biology, which in turn may lead to various cellular abnormalities. As it is inherited, the genetic nature of the disorder plays a crucial role in its development.
A new study explores retinopathy in dyskeratosis congenita and related telomere biology disorders, specifically focusing on short telomere associated retinopathy (STAR). This research highlights the implications of telomere dysfunction in ocular health.
A recent study published in PubMed highlights liver-associated findings in patients with telomere biology disorders, providing insights into clinical outcomes. This research contributes to the understanding of how telomere dysfunction impacts liver health.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
