CZI Grant

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cureCADASIL and a team of world-renowned researchers have been awarded a $1M grant for their collaboration to drive progress for the CADASIL Community as part of the Chan Zuckerberg Initiative’s Patient-Partnered Collaborations for Rare Neurodegenerative Disease (CZI PPC) – a program that supports work by patient communities and scientists to accelerate research in the fight against rare diseases.

The CZI PPC award supports research centered on science that will close critical knowledge gaps and build a strong foundation for translational efforts, as well as engagement and communications activities to involve and inform the patient community.

CZI PPC-funded Patient Engagement Efforts

The $200K in funds awarded to cureCADASIL starting in 2023 is helping strengthen patient engagement, drive enhanced educational and communications activities, and support the research team in their effort to make breakthroughs that benefit the CADASIL community.

Dr. Fanny Elahi and her team at the Icahn School of Medicine at Mount Sinai are excited to be in the second year of their Chan Zuckerberg Initiative (CZI) Patient-Partnered Collaboration grant. Their Year 1 (2023) goals were completed, and they’re well on their way to completing their Year 2 (2024) goals!

Last year, we established a Community Advisory Group (CAG) to help guide our community engagement and provide us with feedback and insight on both research and patient advocacy. This year, with integral input from the CAG, we’ve launched a revamped website and logo, and are updating our social media channels. The CAG’s input has been absolutely invaluable in ensuring that our community-geared efforts are reflective of what patients want to see.

Below is the progress made toward our funded milestones:

CZI PPC Patient Engagement Activities Tracker

A major milestone of the CZI PPC grant is the establishment of a Community Advisory Group (CAG) — a dedicated group of individuals who have knowledge or experience in CADASIL and areas of neurodegenerative disease and stroke who will provide invaluable insights into patient and caregiver perspectives, needs, and aspirations. The CAG has played a vital role in guiding our team toward discovery and providing feedback to cureCADASIL on its patient engagement activities and associated materials. We extend our heartfelt gratitude to all our 2024 CAG members for their participation and thoughtful contributions.

Community Advisory Group

Debarag Banerjee, PhD
Community Advisory Group Chair

Ki Coale

Andria Burroso

Sheila Connor

Michael Kennedy

Courtney Deplaris

CZI PPC-funded Research Efforts

The coordinating research PI, Fanny Elahi, MD, PhD, Assistant Professor of Neurology, Neuroscience, and Pathology and Molecular and Cell-Based Medicine at the Icahn School of Medicine at Mount Sinai, has received $800K since 2023 to conduct research for 2 years. Dr. Elahi is leading a multi-disciplinary team to build cellular models of CADASIL to reverse engineer the disease and discover new therapeutic targets. They will employ two complementary models of human brain vasculature created from patient samples to understand CADASIL’s early instigating events and disease progression.

Last year, Dr. Elahi and her research team accomplished their Year 1 (2023) goals! They identified proteins that are implicated in CADASIL and discovered that angiogenesis–the renewal and maintenance of blood vessels–is dysregulated in CADASIL patient samples compared to those without the disease. Once they identified this physiological measure of CADASIL, they built in vitro assays–isolated cells of interest–to start determining if this abnormal angiogenesis is a viable target for drug screening.

Now in Year 2 (2024) of their CZI grant, the Elahi research team is building additional models of brain cells, which will enable them to make direct comparisons between cells with and without CADASIL and test their predictions. They are currently 50% complete building 3D in vitro flow models, which will allow them to run realistic simulations of how blood vessel cells function. They are also 60% complete analyzing immune cells and their relationship to blood vessels in CADASIL samples. When combined with their findings in protein analysis and brain cell comparisons, this work will move them toward the next stage of treatment discovery. In the next chapter of this work, they seek to understand how blood vessels and immune cells communicate and the role of abnormal communication in disease progression. This requires larger numbers of patient samples to be analyzed (see how you can help below).

Altogether, the cellular models made from blood donations by CADASIL patients and healthy controls and the signatures of disease detected in immune cells and blood will be used to advance our understanding of disease and drug screening in future years.

Additionally, Dr. Elahi and her team have been studying a genetic database at Mount Sinai. They have discovered that many people with CADASIL are actually resilient to the disease–they have genetic mutations but do not develop significant symptoms. This is an exciting finding because it provides evidence that genetic mutations are not deterministic in CADASIL. Understanding why some individuals are not developing symptoms will help shed light on the biology of resilience and open a new angle for the development of treatments for CADASIL.

Get Involved
In the CZI PPC’s unique funding program, CADASIL patients can participate in research at the bench rather than only in the clinic, making us partners in this truly translational work. Dr. Elahi and cureCADASIL need your help to complete the Year 2 goals and acquire materials to complete the Year 3-4+ milestones. What we need: blood samples and other standard assessments (brief medical exam, brain imaging, and memory tests) from individuals living with CADASIL and from healthy volunteers (family members, friends). We deeply appreciate your consideration and thank everyone who has already volunteered!

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MEET THE TEAMS

cureCADASIL Team