Research Programs
Molecular Analysis and Characterization of Rare Tumor Samples
Example Uses
Study Description
Molecular Analysis and Characterization of Rare Tumor Samples
Alterations in the genome contribute to the development of tumors and potential metastasis of cancer cells. In order to devise new therapies for rare cancer patients, scientists need to have a better understanding of the molecular characteristics of each tumor. Differences in tumor properties, germline genetics, and response to any given treatment also need to be studied in order to fully understand the similarities and uniqueness of each patient’s cancer. Since these cancers are rare, there is a critical need to establish accessible resources for the scientific community to translate discoveries into novel treatments for patients with rare cancers.
This study utilizes patient tumor samples to accelerate this research and foster a greater understanding of rare cancers among the scientific community. By sharing tissue from your cancer surgery, you could help make a significant impact and advance the field’s knowledge about rare tumors.
This work, directed by Dr. Andrew Futreal, PhD and Dr. Tim Heffernan, PhD at The University of Texas MD Anderson Cancer Center, seeks to overcome major obstacles to rare cancer research by studying the cancer genome and transcriptome and, when possible, developing cell lines from patient tissue to be used in the laboratory to study rare disease and identify potential new therapeutic strategies. These areas are particularly important for rare cancer studies, where scientists are significantly limited in the ability to do research because of a lack of access to both comprehensive molecular data and models of rare cancer types that would enable a better understanding of each disease.
This project will include sequencing patient tumors and potentially generating and testing cancer cell lines for vulnerabilities that could be targets for new therapies. In addition, these same models will be made available to the research community and thus will enable scientists all over the world to perform studies focused on understanding the susceptibility of rare cancers to certain therapies and ultimately help inform on treatment options that are directed based on the characteristics of each patient’s tumor. Each piece of data or model generated for rare cancers -- like yours — is a potentially transformative tool to help scientists advance our understanding and treatment for rare cancers.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Drug Discovery
Drug discovery is the process of finding, developing and/or testing new or existing medicines to treat specific diseases.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
Developing and interrogating models of rare diseases - The Hong Lab
Example Uses
Study Description
The Hong Lab at Emory focuses on pediatric high risk solid tumors including kidney cancers such as renal medullary carcinomas (RMC) and Wilms tumors. The objectives are to develop and genomically characterize rare cancer models and use these model systems to better understand each disease. By sharing tissue from your surgery, you could help accelerate this research.
The Hong Lab is developing cell lines, organoids and xenografts which are used as model systems to study diseases. This is particularly important for childhood kidney cancers, where scientists are limited in the ability to do research because there are not enough models of the different cancer types to understand each disease. The ability to create faithful models of disease is critical to the ability to characterize mechanisms of these cancers and identify new therapeutic targets.
All models and data that are generated will remain de-identified and will be shared and distributed to promote broader scientific discovery. Each model generated for these cancers -- like yours -- is a potentially transformative tool that can help scientists better understand cancer.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
Pattern Biobank
Example Uses
Study Description
The Pattern Biobank, an initiative of the Rare Cancer Research Foundation, stores and distributes a variety of human biological samples for use in research projects that have been vetted and approved by the Foundation. This biobank is an important resource which supports many types of innovative research initiatives including those involved with model generation, genomic sequencing and analysis, drug screening and personalized medicine studies.
Biobank staff will carefully process and store samples following a detailed set of policies to safeguard the biospecimens against contamination or loss and to protect participant confidentiality until the appropriate study is selected for individual sample use.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Drug Discovery
Drug discovery is the process of finding, developing and/or testing new or existing medicines to treat specific diseases.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
TRACER
Example Uses
Study Description
The mission of TRACER (Transformative Rare Cancer Initiative) is to unlock new treatment options for patients with rare and understudied cancers.
We do this by creating the tools and data needed to understand what drives these diseases and how best to treat them. Our program has three main goals: (1) to collect and share high-quality tumor samples through a national biobanking effort; (2) to develop cutting-edge preclinical models such as 3D microtumors, and cell lines, that faithfully represent rare cancers; and (3) to perform functional drug screening and molecular profiling to identify promising therapies. By working across institutions and in close partnership with patient advocates, we hope to dramatically expand the research resources available for rare cancers. Every sample we receive helps move the field forward, bringing us one step closer to personalized treatment strategies and real hope for patients and families affected by these difficult diseases.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Drug Discovery
Drug discovery is the process of finding, developing and/or testing new or existing medicines to treat specific diseases.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
Cancer Cell Line Project
Example Uses
Study Description
The Cancer Cell Line Project develops cell lines from patient tumors in order to accelerate research. By sharing tissue from your cancer surgery or biopsy, you could be a driving force in cancer research.
At the Broad Institute of MIT and Harvard, we are overcoming major obstacles to research by developing cell lines, which are used as model systems to study diseases. This is particularly important for rare cancer research, where we are significantly limited in the ability to do research because there are not enough models of each type of rare cancer to understand each disease.
The Cancer Cell Line Project will generate cancer cell lines that will enable a variety of studies focused on the causes of cancer, and how to treat cancer. Each cell line built for rare cancers -- like yours -- is a potentially transformative tool that can be shared by many scientists all over the world to better understand cancer.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
Pattern.org Biospecimen and Data Resource (PBDR)
Example Uses
Study Description
Pattern.org Biospecimen and Data Resource (PBDR) for the study of Rare Cancers and Diseases
INSIGHT biobank
Example Uses
Study Description
The Insight Biobank for Ocular Melanoma, a non-profit, advocacy-led biorepository, exists to accelerate discovery, diagnosis, and therapeutic development for ocular melanoma by serving as a centralized, ethically governed, and patient-inclusive repository of biological specimens and associated data.
By collecting and securely storing donated tissue, blood, and clinical data, A Cure In Sight Foundation, in partnership with pattern.org , is building a foundation for breakthroughs in understanding, preventing, and treating this rare cancer. A key focus of the biobank will be to house biospecimens and also grow patient-derived cell line models to accelerate laboratory and translational research.
Through this collaboration, patients and families have the opportunity to directly contribute to lifesaving research. Every donation helps scientists uncover new insights into disease progression, identify novel therapies, and move closer to personalized treatment options.
The Insight Biobank ensures that samples are collected ethically, stored responsibly, and made available only to qualified researchers who are committed to advancing the fight against ocular melanoma.
Donations of tissue and data are turning patient generosity into discovery—bringing the Ocular Melanoma community one step closer to a cure.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Drug Discovery
Drug discovery is the process of finding, developing and/or testing new or existing medicines to treat specific diseases.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
cureMEC Biobank
Example Uses
Study Description
cureMEC: The Myoepithelial Carcinoma Project is a patient-driven nonprofit research initiative dedicated to advancing scientific understanding and treatment development for myoepithelial carcinoma (MEC) through the creation of a shared, ethically managed biorepository and data resource.
In collaboration with Pattern.org, cureMEC is collecting and securely maintaining donated tumor tissue, blood samples, and related clinical information to support cutting-edge research in this ultra-rare cancer. Beyond specimen storage, a central goal of this effort is the development of patient-derived research models, such as MEC cell lines and patient-derived xenografts (PDX), that enable drug testing, biological discovery, and translational research.
This partnership gives patients and families an active role in shaping the future of MEC research. Each donation contributes directly to understanding how this cancer develops and progresses, uncovering shared molecular drivers, and accelerating the search for more effective, targeted treatment options.
All samples are obtained through rigorous informed consent processes, stored using best-in-class scientific standards, and shared only with vetted investigators committed to advancing care for patients with MEC.
Through tissue and data donation, the MEC community is helping transform rare patient experiences into the scientific insights needed to drive real therapeutic progress.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Drug Discovery
Drug discovery is the process of finding, developing and/or testing new or existing medicines to treat specific diseases.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
Cell Model Generation for Neurofibromatosis (NF)
Example Uses
Study Description
The Children’s Tumor Foundation (CTF) is working with Pattern.org to give people living with NF an opportunity to contribute directly to research that may lead to a deeper understanding of the disease biology or better treatments in the future.
As part of this project, eligible individuals diagnosed with NF1, NF2-related schwannomatosis (NF2-SWN), or schwannomatosis (SWN) may be asked to donate a small blood sample. This blood sample will be used to create special research cells called induced pluripotent stem cells (iPSCs). These cells can be grown in the lab and studied over time.
Researchers use these cells to create a cell model to better understand how NF affects the body and to test potential new drugs and therapies. The cell models may be shared with both nonprofit and industry researchers to help speed up discoveries and advance treatment development. The identity of all participants will be protected and never shared with nonprofit or industry researchers.
By donating a sample, participants are helping scientists learn more about NF and supporting research that could benefit the broader NF community in the years ahead.
Note that participation is by invitation only and samples can only be collected Monday thru Thursdays. We are creating a specific patient-representative platform of cell lines that are most relevant for the research community. If you are interested in learning more, please contact Irene Morganstern (imorganstern@ctf.org).
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Rare Cancer Data Initiative
Example Uses
Study Description
The Rare Cancer Data Initiative is a partnership between the Case Comprehensive Cancer Center (Case CCC), the Rare Cancer Research Foundation (RCRF), and the Alliance for Rare Cancers (ARC). Together, we are working to create new data from rare tumors that have not been well studied before.
In collaboration with Pattern.org, we are collecting donated tumor tissue and related clinical information. This helps researchers’ study different rare tumor types. By looking at your tumor’s DNA (genome), the messages your cells make (RNA), and the proteins in the tumor, scientists can better understand how rare cancers develop and behave. We may also create research models that help test new drugs and discover new treatment approaches.
There is very little data available for people with rare cancers. By donating tissue and clinical information, you can help researchers learn more about these diseases. The Rare Cancer Data Initiative aims to turn patient experiences into scientific insights that can drive real progress toward better treatments.
Cell line
A cell line or cell model is a population of cells that originally came from a patient’s tissue (or blood) and can be grown in the laboratory so researchers can study how the disease works and test new therapies.
Drug Discovery
Drug discovery is the process of finding, developing and/or testing new or existing medicines to treat specific diseases.
Sequencing
Sequencing is a laboratory method used to read the genetic instructions in a tumor (or a person’s cells) to find changes that may cause disease or help guide treatment. It’s like reading the letters in the body’s instruction manual to find typos that might cause disease. There are different types of sequencing some of which are described below.
DNA Sequencing reads the genetic code stored in DNA and it helps researchers find mutations in tumors, identify inherited genetic changes and understand what might be driving a disease.
RNA Sequencing reads RNA, which is the working copy of genetic instructions that cells use to make proteins. Researchers use RNA sequencing to learn which genes are turned on or off, how active certain genes are and how cells are behaving.
Whole Exome Sequencing (WES) reads the parts of DNA that contain the instructions for making proteins. Only about 1–2% of the genome contains these protein-coding instructions, but this is where many disease-causing mutations occur. Researchers use WES to learn about mutations in protein-coding genes, changes that may drive cancer or other diseases and targets that might be used for drug development.
In short:
DNA Sequencing looks at the DNA code and indicates what mutations exist
RNA Sequencing looks at gene activity and which genes are being used
Whole Exome Sequencing looks at protein-coding DNA and which mutations affect proteins
LMS Blood Test (Briger Foundation)
Example Uses
Study Description
Help Us Develop a Blood Test for Leiomyosarcoma
Why we are doing this
Today, leiomyosarcoma is usually found with imaging such as CT, MRI, or PET scans. These scans are excellent tools, but they can only show a tumor once it has grown large enough to be seen. By then, the cancer has often had time to spread. We are working on a different approach. Leiomyosarcoma cells can sometimes break away from a tumor and travel in the bloodstream. If we could find those individual cells in a simple blood sample, doctors might one day be able to detect the disease, or its return, much earlier and begin treatment before a new tumor has a chance to grow.
Where the project stands
We are in the earliest research phase. We are testing and refining a laboratory method originally developed by RareCyte, a company based in Seattle. Before this can go any further, we need to answer one basic question: can the test find leiomyosarcoma cells in the blood of people who have active disease? To answer that, we need real blood samples from people living with this cancer. This is why we are reaching out to you.
What we are asking
We are looking for 5 volunteers who have active leiomyosarcoma, meaning a tumor or metastatic tumors are currently present and have not been removed by surgery or eliminated by treatment. Participation involves a single blood draw of 5 mL, which is a single small tube of blood. If you are receiving chemotherapy, we would ideally like to collect the sample about two weeks after a treatment cycle. There is nothing else to do beyond that one draw.
Please read this carefully
We will not be able to share any results with you or your doctor. This is not a diagnostic test, and it is not approved for medical use. It is an experimental method still being developed and validated in the laboratory. A result from this test, whether positive or negative, would not be reliable enough to tell you anything about your own health, and it must not be used to guide your care. Your donation will help us learn whether this method works at all. It will not provide information about your disease.