Nathan Carlsen Fund Dedicated to finding a cure for NCM
Nathan Carlsen Fund for NCM research is raising money for UPMC Children's Hospital Foundation
Story
On March 19, 2018 we lost our son Nathan to a very rare and immensely lethal form of brain cancer, called Central Nervous System Melanoma. Also known as Neurocutaneous Melanocytosis (NCM).
No effective treatment, nor a cure exists.
Much needs to be learned about NCM, yet pediatric brain cancer in general is tragically underfunded. And even more so a rare disease like NCM.
Thankfully, a very talented and deeply committed team of researchers, led by Dr. Miguel Reyes-Mugica, are working tirelessly to find a cure. And they need our help to fund continued research.
In 2019, the first phase of an important research project to understand the origin and development of NCM was funded by a generous team of Nathan's family and friends. Together we raised $68,325. This enabled researchers to start a novel mouse model program, which is now well, and successfully, underway. You can read more about it below.
In 2020 a new critical project was funded and completed thanks to the $10,000 raised to purchase expensive reagents/kits and pay for a suite of procedures. The project involved the inclusion of NCM as a disease in the WHO (World Health Organization) classification of Central Nervous System Tumors, in which Dr. Reyes is participating as Expert Editor. To achieve this the identification of the methylation profile of NCM tissues, an unexplored area to this day, was required. This profile is key to understanding the disease and the involvement of epigenetics.
Like Dr. Reyes-Mugica and his team, we as a family remain immensely committed to finding a cure. Tragically we are not alone in suffering the loss of a child to NCM. By raising these funds we want to commemorate all those who lost their lives and send so much love to all those fighting for their life.
We hope that in spite of the hardships of 2022, you are once again able to join us in this mission.
We are eternally grateful for your generosity, kindness, and ongoing support.
Happy holidays to you and your family.
Warmly,
Christina, John, and Isabelle
To make a donation:
Donations can be made via credit card on this site or offline (see below - mention Nathan Carlsen Fund). A tax receipt will be provided via email upon donating. While the email will state you donated to 'Children’s Hospital of Pittsburgh Foundation', every penny of your donation will go directly to the Nathan Carlsen fund, funding these research projects. You will see your donation on this page unless you select the 'anonymous' option.
Please feel free to share this fundraiser with others: https://www.givetochildrens.org/nathancarlsen.
About the research:
Dr. Reyes-Mugica, MD at Pittsburgh Children's Hospital, and his team exclusively study central nervous system melanoma and congenital nevi. They are the only team in the United States dedicated to prospectively collecting and studying samples from patients with NCM, such as Nathan. They work closely with other NCM experts, such as Dr. Yasmin Khakoo at Memorial Sloan Kettering, in New York.
Update on the 2019 NCM novel, faithful mouse model for NCM Research Project
This innovative research project seeks a better understanding of the underlying, molecular nature of NCM to identify target drugs that can prolong life and potentially cure this cancer.
NCM is caused by a mutation in the RAS protein. This protein is one of the on/off switches for cell proliferation. NRAS Q61K, which Nathan had, keeps this switch on. The innovative mouse model used in this project includes two strains of mice: one strain carries the NRAS Q61K mutation in a safe location. The other strain carries Cre recombinase, so that when the two strains mate the mutation hopefully manifests itself. This research project takes time due to the time it takes for the mice to reproduce.
Presently, four colonies of mice exist. They include: the Wild type, hetero, and homozygotic mutated animals, Cre (+/Cre). Additionally, the protocols for the genotyping of these four colonies by PCR have been successfully developed and implemented. Based on the genotyping data, the first experimental breeding pairs were set up and they reproduced. All pups were born alive. The next step is to characterize the pups. This will happen soon and the first set of results are expected by the end of the year.
| Nathan's love and joy for life lives on! |
How to make an offline donation:
Make checks out to:
Children’s Hospital of Pittsburgh Foundation
Memo Line: Nathan Carlsen Fundraising Page
Mail checks to:
Children’s Hospital of Pittsburgh Foundation
c/o PNC Bank
Attn: Ashley Laber
PO Box 535240
Pittsburgh, PA 15253-9926
How to make an international donation:
Paypal:
Please direct donation to: datacenter@chp.edu.
MAKE SURE TO INCLUDE NATHAN CARLSEN FUNDRAISING PAGE / ATTN ASHLEY LABER
Wire Transfer:
Bank Name: Bank of New York Mellon
Bank Address: 500 Ross Street, Suite 1320, Pittsburgh, PA 15262-0001
Bank Contact: Judith Rosko 412-234-2145
Bank Account: #118-3700
ABA Routing: #043-000-261
Swift Code: #MELNUS3P
MAKE SURE TO INCLUDE NATHAN CARLSEN FUNDRAISING PAGE / ATTN JUSTINA CINCOTTI
For Belgians, if preferred, please contact Christina for Belgian account number.
About Dr. Miguel Reyes-Mugica
Dr. Miguel Reyes-Mugica, at Pittsburgh Children's Hospital, has made it his life's mission to find a cure for Central Nervous System Melanoma, also known as Neurocutaneous Melanocytosis (NCM). His team is exclusively dedicated to this and closely collaborates with other physicians around the world who also study this disease.
Dr. Reyes-Mugica believes his research will not only help identify target drugs for CNS Melanoma but for other diseases as well. Note that NCM not only impacts children but also adults, most often later in life.
More about NCM:
- Neurocutaneous melanocytosis (NCM) or Central Nervous System Melanoma is a deadly childhood disease.
- It is rare and incompletely understood.
- Children affected by this disease are born with a neoplastic proliferation (pigmented tumors) in the brain and its coverings (meninges), associated with large or giant pigmented lesions (nevi, or CMN) in the skin.
- Once neurological symptoms appear, generally due to the growing cells, survival usually is not beyond their third birthday.
- To improve patient survival, targeted therapy is called for.
- The disease was first reported in 1881 by Rokitanski, an Austrian physician.
- NCM is one of the most neglected, under-funded and under-studied childhood cancers.
More about the research:
- Due to its rarity, research on NCM is poorly funded, and no specific drug treatment is available for these patients.
- Dr. Reyes' laboratory is dedicated to the study of this disease and is investigating the cause, pathophysiology, molecular nature, and therapeutic strategies that may be used for treatment.
- Published research from his work has shown promising drug candidates based on in vitro studies. To test for the physiological effect of drugs to treat the disease, a faithful animal model is urgently needed.
- Given the rarity of human samples, in order to identify specific molecular targets in NCM, a mouse model is absolutely necessary that faithfully recapitulates the human disease.
- Previous attempts to create an animal model of NCM did not faithfully recapitulate all aspects of the human disease.
- This research project involves building a faithful mouse model to identify novel drug targets and test potential drugs. It will use advanced genome editing techniques, incorporate knowledge from their recent studies on the molecular and genetic characteristics of NCM tumor cells isolated from patient's tumors.
- Specifically, the newly developed CRISPR-Cas9 method will be used to introduce genetic traits in embryonic mice. DR. Reyes believes the creation of this mouse model may generate immediately translatable benefits for the affected patients.
- This would significantly advance treatment opportunities for NCM patients and prolong cancer-free survival.
- Dr. Reyes' team is in a particularly advantageous position to embark on this project as their animal model design has been recognized by Cyagen Biosciences as winner of their CAMA award and also have an approved animal protocol from IACUC at the University of Pittsburgh.