Our new paper is out!
We identified an AGG repeat expansion in BIN1 as a variant associated with multiple system atrophy.
Huge thanks to all collaborators and to the patients and families who made this work possible.
https://t.co/v5O2fsnRxd
#MSA#neurogenetics
Mary Brunkow and Fred Ramsdell – who have been awarded the 2025 Nobel Prize in Physiology or Medicine – gained decisive insights into how autoimmune diseases arise.
Brunkow and Ramsdell made a key discovery in 2001, when they presented the explanation for why a specific mouse strain (named scurfy) was particularly vulnerable to autoimmune diseases.
The medicine laureates had discovered that the mice have a mutation in a gene that they named Foxp3. They also showed that mutations in the human equivalent of this gene cause a serious autoimmune disease, IPEX.
The 2025 #NobelPrize in Physiology or Medicine has been awarded to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi “for their discoveries concerning peripheral immune tolerance.”
Mary Brunkow, Fred Ramsdell and Shimon Sakaguchi have been awarded the 2025 Nobel Prize in Physiology or Medicine for their groundbreaking discoveries concerning peripheral immune tolerance that prevents the immune system from harming the body.
The Nobel Prize laureates identified the immune system’s security guards, regulatory T cells, thus laying the foundation for a new field of research. The discoveries have also led to the development of potential medical treatments that are now being evaluated in clinical trials.
The hope is to be able to treat or cure autoimmune diseases, provide more effective cancer treatments and prevent serious complications after stem cell transplants.
#NobelPrize
BREAKING NEWS
The 2025 #NobelPrize in Physiology or Medicine has been awarded to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi “for their discoveries concerning peripheral immune tolerance.”
Our preprint is out!
We have identified AGG repeat expansion in BIN1 as a causative variant for multiple system atrophy (MSA) and discovered that the BIN1 protein aggregates in the brains of individuals with MSA.
https://t.co/8HYg0he9Ye