SAMD9L Foundation

Wlodarski M et al. (2021) | Haematologica

The Arrival of Personalized Genomics in Bone Marrow Failure

NGS has transformed BMF diagnosis, revealing inherited mutations like SAMD9/L and guiding future care.

Wlodarski M et al. (2021) | Haematologica

The Arrival of Personalized Genomics in Bone Marrow Failure

NGS has transformed BMF diagnosis, revealing inherited mutations like SAMD9/L and guiding future care.

Wlodarski M et al. (2021) | Haematologica

The Arrival of Personalized Genomics in Bone Marrow Failure

NGS has transformed BMF diagnosis, revealing inherited mutations like SAMD9/L and guiding future care.

Xiang, Y. et al. (2023) | Cell Research

Human SAMD9 is a poxvirus-activatable anticodon nuclease inhibiting codon-specific protein synthesis

This study shows SAMD9/L mutations cause protein translation errors, blocking cell growth. Researchers suggest two treatments: reduce faulty SAMD9 activity or help cells bypass the errors.

Xiang, Y. et al. (2023) | Cell Research

Human SAMD9 is a poxvirus-activatable anticodon nuclease inhibiting codon-specific protein synthesis

This study shows SAMD9/L mutations cause protein translation errors, blocking cell growth. Researchers suggest two treatments: reduce faulty SAMD9 activity or help cells bypass the errors.

Xiang, Y. et al. (2023) | Cell Research

Human SAMD9 is a poxvirus-activatable anticodon nuclease inhibiting codon-specific protein synthesis

This study shows SAMD9/L mutations cause protein translation errors, blocking cell growth. Researchers suggest two treatments: reduce faulty SAMD9 activity or help cells bypass the errors.

Mansky, R. et. al. 2020 | Journal of Clinical Investigation

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Baricitinib, an approved drug, showed promise in treating SAMD9L disease—offering rare hope and supporting broader drug repurposing efforts.

Mansky, R. et. al. 2020 | Journal of Clinical Investigation

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Baricitinib, an approved drug, showed promise in treating SAMD9L disease—offering rare hope and supporting broader drug repurposing efforts.

Mansky, R. et. al. 2020 | Journal of Clinical Investigation

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Baricitinib, an approved drug, showed promise in treating SAMD9L disease—offering rare hope and supporting broader drug repurposing efforts.

Allenspach, E. et al. (2021). | Journal of Experimental Medicine

Germline SAMD9L truncation variants trigger global translational repression

This study shows SAMD9/L mutations suppress tRNA and protein translation, disrupting cell function across the body. It explains wide symptom variability and underscores the need for targeted treatments.

Allenspach, E. et al. (2021). | Journal of Experimental Medicine

Germline SAMD9L truncation variants trigger global translational repression

This study shows SAMD9/L mutations suppress tRNA and protein translation, disrupting cell function across the body. It explains wide symptom variability and underscores the need for targeted treatments.

Allenspach, E. et al. (2021). | Journal of Experimental Medicine

Germline SAMD9L truncation variants trigger global translational repression

This study shows SAMD9/L mutations suppress tRNA and protein translation, disrupting cell function across the body. It explains wide symptom variability and underscores the need for targeted treatments.

Zingariello, M. et al. (2024). | Annals of Neurology

Assessing Long‐Term Neurologic Outcomes in SAMD9L‐Related Ataxia‐Pancytopenia Syndrome

This study tracks neurological decline in ATXPC, highlighting symptom variability and progression. It underscores the importance of long-term follow-up to design effective clinical trials and accelerate treatment discovery.

Zingariello, M. et al. (2024). | Annals of Neurology

Assessing Long‐Term Neurologic Outcomes in SAMD9L‐Related Ataxia‐Pancytopenia Syndrome

This study tracks neurological decline in ATXPC, highlighting symptom variability and progression. It underscores the importance of long-term follow-up to design effective clinical trials and accelerate treatment discovery.

Zingariello, M. et al. (2024). | Annals of Neurology

Assessing Long‐Term Neurologic Outcomes in SAMD9L‐Related Ataxia‐Pancytopenia Syndrome

This study tracks neurological decline in ATXPC, highlighting symptom variability and progression. It underscores the importance of long-term follow-up to design effective clinical trials and accelerate treatment discovery.

Goodnow, C. et. al. | Proceedings of the National Academy of Sciences

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression

This study reveals that SAMD9L mutations repress protein synthesis, causing systemic issues now termed SAMD9L-SAAD. It highlights overlap with MIRAGE syndrome and the need for personalized care beyond just labeling symptoms as “ataxia.”

Goodnow, C. et. al. | Proceedings of the National Academy of Sciences

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression

This study reveals that SAMD9L mutations repress protein synthesis, causing systemic issues now termed SAMD9L-SAAD. It highlights overlap with MIRAGE syndrome and the need for personalized care beyond just labeling symptoms as “ataxia.”

Goodnow, C. et. al. | Proceedings of the National Academy of Sciences

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression

This study reveals that SAMD9L mutations repress protein synthesis, causing systemic issues now termed SAMD9L-SAAD. It highlights overlap with MIRAGE syndrome and the need for personalized care beyond just labeling symptoms as “ataxia.”

Jansen, I. E. et al. (2021). | Acta Neuropathologica

A novel SAMD9L mutation causing spinocerebellar ataxia type 49 (SCA49) with mitochondrial dysfunction