Research Opportunities
Current Projects as of 5/2024
Drug Repurposing
Perlara is helping us search for drug therapies
In late 2023, we raised money to complete a drug repurposing screen that tests FDA approved compounds on yeast that has ADSLD. Each of the 'hits' that the screen provides will give us a new molecule to research and may help deepen our understanding of the mechanism by which the deficiency causes disease.
ADSLD in the Newborn Screen
A team at Baylor is investigating if ADSLD has a blood biomarker
As we search for therapies for the disorder, we know early diagnosis is key to improve patient outcomes. That's why we're participating in a study that seeks to learn if ADSLD and 19 other rare disorders can be detected in blood samples and added to a Universal Newborn Screen.
Natural History Study
Dr. Oleg Shchelochkov from the NIH is accumulating knowledge
A Natural History Study observes a disease over time in order to understand the lived experience of the patient and the progression of disease. Such a study will contribute a vast amount of knowledge and will serve as a baseline for further research going forward. Families in the U.S. are encouraged to participate!
Rare-X Data Collection
Our stories become data, and data is powerful
We partner with Rare-X to collect information from patient surveys that illuminate trends in ADSLD. This data can be shared with research partners, with doctors, and even with schools to improve care for those living with ADSLD.
Our Scientific Advisory Board
Journal Articles by Decade
2020 - Present
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
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Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
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Adenylosuccinate lyase deficiency: The first identified polish patient
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