News and updates
Second Newsletter
June 1, 2022
The IRRDC is pleased to share our second newsletter, which highlights recent work that has advanced our understanding of immune-based therapies for patients with CMMRD. We welcome you to contact us regarding any questions, comments, or feedback. Enjoy!
New Publication in Nature Medicine
February 1, 2022
Congratulations to Dr. Das and the team! Our newest research recently published in Nature Medicine finds that immune-based therapy may help treat certain childhood cancers that are resistant to more common cancer treatments such as chemotherapy and radiation therapy. You can read more about this work here.
Inaugural Newsletter and Second Education Night
October 27th, 2021
We are very excited to announce that we have published the first issue of our inaugural newsletter which contains recent research highlights and articles written by members of our team and global family. We encourage you to share this newsletter with those you feel may be interested in our latest work.
Please click here to download the first issue
In addition, we would like to announce our second educational seminar which will be held virtually on November 30th from 8-9am EST. Details can be found on our Eventbrite Page . If you are interested in attending this event, please register on Eventbrite. A link to the webinar will be provided the week before the event. For those who cannot attend live, the talks will be recorded and disseminated to those registered following the event.
Congratulations to Yash Krishnan!
October 21st, 2021
We would like to extend a huge congratulations to the incredible Yash Krishnan for his award nomination for “Federal or State Advocacy by a Teenager” through the EveryLife Foundation for Rare Diseases. This award honours teen advocates that have advocated for novel state or federal legislation
Yash and his family play an enormous role in our group as patient and parent advocates. They are dedicated to raising awareness and funding for CMMRD and other rare diseases by engaging with the FDA and international politicians. We are so grateful to have them as part of this team.

Yash Krishnan
Education Night Talks
July 15, 2021
The talks from our very first education night (held on April 1st, 2021) are now available
Please follow this link to our Education Night page to see our inaugural talks, where Dr. Vanessa Bianchi discusses how following a surveillance protocol has greatly improved survival for individuals with CMMRD, and Dr. Victoria Forster discusses how we can use some CMMRD patient samples to generate “mini-organs” which may be used for a personalised medicine approach to patient care in the future.
New Surveillance Publication in JCO
May 5, 2021
Congratulations to Carol Durno, Ayse Bahar Ercan, Vanessa Bianchi, Uri Tabori and many additional collaborators from the RRD consortium for their landmark study on the efficacy of the surveillance protocol, now published in the Journal of Clinical Oncology.
Major findings from this study include:
- Surveillance enables early tumour detection
- 100% of GI and solid tumours, and 75% of brain tumours were identified asymptomatically in patients undergoing surveillance
- Surveillance significantly improves long-term survival
- Four-year survival was 79% for patients who adhered to the full protocol, in contrast to only 15% for patients not under surveillance. Strikingly, four-year survival was still 55% for patients who only had partial surveillance.
- Low-grade tumors identified by surveillance have a high likelihood of transforming, emphasizing the need for early detection and resection.
- 100% of low-grade tumors that were not resected transformed to high-grade within 6 years.
Ultimately, these results emphasise the momentous survival benefit of surveillance in patients with CMMRD.
Please visit the JCO Journal Page to read more about this study and download a copy of this paper.
New Publication Accepted in Cancer Discovery
March 2021
Congratulations to Melissa Galati and the rest of the IRRDC for their new publication in Cancer Discovery, showing that treatment of patients with RAS/MAPK hypermutant gliomas have durable responses to MEK inhibition.
You can read more about this paper on Cancer Discovery.
New diagnostic criteria for CMMRD published by the international working group based on novel tools.
March 2021
A new paper has been published by Melyssa Aronson and an amazing team of international collaborators. This paper details seven diagnostic criteria for the diagnosis of CMMRD that were developed during our Annual RRD Workshop in 2017. The criteria incorporate germline mismatch repair results, novel tools and clinical characteristics to determine a diagnosis, and provides updated guidelines for health-care providers.
Read their recommendations:
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