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CASK-Related Disorders Virtual Think Tank
The Orphan Disease Center hosted a virtual Think Tank for CASK-related disorders on December 4th, 2023. During this research-focused meeting, we met with clinicians and scientists to discuss these group of genetic disorders that affect brain development. CASK-related disorders are caused by mutations in the CASK gene and are inherited in an X-linked manner. During this scientific Think Tank, we aimed to increase knowledge on these disorders by bringing together experts and key opinion leaders and create a road map for research in this area. Based on this knowledge, we will develop a grant program that will assure funding for investigators of CASK-associated diseases, in collaboration with the Project CASK Foundation.
The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as CASK-related disorders. By bringing together experts, we encourage collaboration amongst these researchers to ultimately advance science in these otherwise neglected diseases.
CACNA1A Research Readiness Think Tank
The Orphan Disease Center hosted a virtual Research Readiness Think Tank for CACNA1A-related disorders on July 24th, 2023. During this research-focused meeting, we met with clinicians and scientists to summarize the results from the Research Readiness survey from the RARE-X Data Platform, and focus on the key research questions surrounding the episodic nature of two main CACNA1A-related disorders using a combination of clinical and molecular data. The output from this meeting helped identify funding priorities and gaps in the disease knowledge in the CACNA1A field, and also acted as a precursor to the CACNA1A Research Roundtable in October 2023.
The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as CACNA1A-related disorders. By bringing together experts and key opinion leaders, we aimed to increase knowledge in these disorders and encourage collaboration amongst these researchers to ultimately advance science in these rare diseases.
Bloom Syndrome Think Tank
Bloom Syndrome Think Tank
The Orphan Disease Center hosted a Bloom Syndrome Think Tank on November 9, 2021. During this research-focused meeting, we met with clinicians and scientists from the US, Australia, Denmark, and the UK, to discuss the state of the research in Bloom Syndrome and to learn more about the most current advances in this disease. We identified several gaps in the research and are now preparing a request for applications from scientists worldwide to begin the research grant program.
Bloom syndrome is a rare disease that affects many body systems and increases the risk of developing cancer at an early age. This disorder is part of a group of rare genetic diseases with defects in DNA damage response and repair. Greater knowledge of its mechanisms will be beneficial not only for patients of Bloom syndrome, but also could be translated to the clinic for cancer therapy. The rarity of this disorder has challenged progress in the understanding of the disease and the development of treatments and cures for patients.
The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as Bloom syndrome. By bringing together experts and key opinion leaders, we aimed to increase knowledge in Bloom Syndrome and encourage collaboration amongst these researchers to ultimately advance science in this otherwise overlooked disease. We will develop a grant program in the near future, that will assure funding for investigators of Bloom syndrome and other associated diseases.
