Annual Research Symposium
Each year, Rare Birds Foundation brings together the scientists and clinicians that research ADSL Deficiency for a Symposium.
Please visit our Youtube Channel to watch presentations from years past.
Research Opportunities
Current Projects as of 9/2026
The Original Research Team
Dr. Marie Zikánová's work spans decades
Dr. Zikánová, and her colleagues at Charles University in Prague, characterized the first ADSL patients using molecular analysis in 1993. Now, her team has created a mouse model and are working towards an AAV gene therapy for ADSL. Patients, families, and physicians worldwide are welcome to contact Dr. Zikánová’s group regarding suspected or confirmed ADSL deficiency. The group can assist with biochemical and genetic testing, including SAdo and SAICAr analysis, interpretation of genetic findings, and additional research investigations when appropriate.
Natural History Study in the U.S.
Dr. Oleg Shchelochkov from the NIH is gathering knowledge and treating patients
A Natural History Study observes a disease over time in order to understand the lived experience of the patient and the progression of disease. This study is contributing a vast amount of knowledge and will serve as a baseline for further research going forward, including a path to an approved therapy. Families in the U.S. are encouraged to participate!
ADSL Center in Vienna
Dr. Caglayan Demirel heads a multi-disciplinary research team in Vienna
Dr. Demirel coordinates research efforts while patients are still seen at their local hospitals. The center focuses on continuing the drug repurposing research funded by Rare Birds Foundation in 2023, as well as biochemical phenotyping. If you are a caregiver for someone with ADSL Deficiency in the E.U. (and beyond!) contact Dr. Demirel using the link below.
A Gene Therapy in Texas
Dr. Xin Chen is developing a gene therapy for ADSL
Started by a Rare Bird mom named Iva and her organization CureADSLd, a promising gene therapy investigation is making strides towards an Investigational New Drug (IND) application. In September 2026 we awarded the first 'Research Accelerator Grant' to support this important work.
Parent-Lead Research with Rare-X
Our stories become data, and data is powerful
We partner with Rare-X to collect information from caregiver surveys that illuminate trends in ADSLD. This research-grade data can be shared with research partners, doctors, and even with schools to improve care for those living with ADSLD. If you care for someone with ADSLD, register by clicking the button below.
Drug Repurposing
Searching for treatments with existing drugs
In late 2023, ADSLD families raised money to complete a drug repurposing screen that tested FDA approved compounds on yeast that has the disorder. Each of the 'hits' that the screen provided gave us a new molecule to research. Dr. Wendy Hanna-Rose from Penn State is continuing to research if, and how, each compound affects C. elegans worms with ADSLD.
Our Scientific Advisory Board
Dr. Wendy Hanna-Rose, PhD
Head of Biochemistry and Molecular Biology, Penn State University
Dr. Iva Milacic, PhD
Prenatal Genetic Diagnostics, Narodni Front University Clinic, Belgrade, Serbia & Rare Bird Parent
Dr. Marie Zikànovà, PhD
Head of Purine Metabolism Disorders, Charles University, Prague
Journal Articles by Decade
2020 - Present
NEW FOR 2025 - ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
ADSL Deficiency – The Lesser-Known Metabolic Epilepsy in Infancy
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
Pathway-specific effects of ADSL deficiency on neurodevelopment
Adenylosuccinate lyase Deficiency (ADSL) and Report the First Case from Iran
2010-2019
Adenylosuccinate lyase deficiency
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing
Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency-Associated Mutation
Novel features in the evolution of adenylosuccinate lyase deficiency
Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
Adenylosuccinate lyase deficiency: The first identified polish patient