Resources
Resources & Links
Navigating a rare disease like SAMD9 or SAMD9L can be overwhelming. We've curated key resources to help patients, families, and clinicians understand the science, manage care, and connect with the rare disease community. Some offer accessible overviews; others support deeper medical insight and collaboration. Each includes a short description, and the list is growing—please reach out with suggestions or additions.
Resources
Gene Reviews
MIRAGE is a rare genetic condition caused by mutations in the SAMD9 gene. The name is an acronym that reflects its most common and serious symptoms:
Myelodysplasia – a problem with bone marrow making healthy blood cells
Infections – frequent and often severe due to a weak immune system
Restriction of growth – babies are often born very small and struggle to grow
Adrenal hypoplasia – the adrenal glands don’t make enough hormones
Genital differences – usually in individuals assigned male at birth
Enteropathy – serious problems with digestion and absorbing nutrients
This syndrome usually starts affecting the child before birth and causes serious medical issues early in life. Many patients face multiple hospitalizations, and sadly, life expectancy can be short. However, how the disease shows up varies — some kids are more severely affected than others.
This article is a reliable clinical summary to help families and physicians understand the syndrome, confirm a diagnosis, and explore management options. While there’s no cure yet, awareness and research—like the kind we’re pushing forward—are essential to changing that.
Scientific & Genetic Databases
Online Mendelian Inheritance in Man
OMIM offers detailed scientific and clinical summaries of inherited disorders. These entries can be useful for clinicians looking for quick reference points, or for families seeking a deeper dive into SAMD9/L mutation data, references, and history.
Protein Atlas – Gene Expression Profiles
SAMD9 and SAMD9L are widely expressed in many cell types, which helps explain the broad range of symptoms these mutations can cause. Protein Atlas is an excellent visualization tool for anyone wanting to see where these genes are active.
Clinical Care & Consultation
SAMD9 and SAMD9L are widely expressed in many cell types, which helps explain the broad range of symptoms these mutations can cause. Protein Atlas is an excellent visualization tool for anyone wanting to see where these genes are active.
St. Jude Children’s Research Hospital
St. Jude has emerged as a clinical leader in treating SAMD9/L-related conditions. Their team offers second opinions and care coordination support. If your local provider is unfamiliar with SAMD9/L, consider having them reach out to bmfreferrals@stjude.org
St. Jude SAMD9/L
A comprehensive catalog of all known SAMD9/SAMD9L germline variants, associated phenotypes, acquired somatic mutations, and functional impact. St. Jude’s efforts to connect researchers and patients have been uniquely patient-centered. They also host events (see below) to foster dialogue between scientists and families—something we deeply value.
Next event: January 24–25, 2025
National Cancer Institute (NCI)
The NCI runs an important study and registry of inherited marrow failure syndromes, including those caused by SAMD9 and SAMD9L mutations. Consider enrolling to support research and receive comprehensive diagnostic evaluation.
Therapeutic Innovation & Rare Disease Advocacy
A biotech company focused on using high-throughput screening to identify repurposable drugs for rare diseases. They’ve developed tools that could speed up therapeutic discovery for small patient populations.
Founded by Dr. David Fajgenbaum, a fellow rare disease patient and researching physician is developing a systematic approach to drug repurposing to match existing medications with overlooked conditions on a large scale
Dr. Might is the Director of Precision Medicine at the University of Alabama, a leading figure in drug repurposing & rare disease therapeutics, and a proponent of patient-centered research.
Support Groups & Community Platforms
Living with a rare disease can feel isolating—but it doesn’t have to be. We might be rare but we’re far from alone. These organizations provide patients, caregivers, and advocates with support in harnessing the power of one’s respective patient community, staying updated on emerging science and attracting researcher attention in an effort to move the therapeutic needle.
is an organization that helps to build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their rare diseases.
RAM is focused on building productive relationships within the rare disease space that are designed to establish ethical and mutually beneficial community-based partnerships across the global rare disease ecosystem.
A newer, grassroots initiative focused on creating spaces for rare disease families to share knowledge, caregiving tips, and emotional support. Especially helpful for parents navigating the early days after a new diagnosis.
The Alliance for Regenerative Medicine is an international community of small and large companies, non-profit research institutions, patient organizations, dedicated to realizing the promise of regenerative medicine.
Helping rare patient communities gather, organize and securely share critical data in a common platform that is accessible to researchers, drug developers, and clinicians, anywhere in the world. In doing so Rare-X hopes to accelerate the diagnosis, understanding, and the development of a treatment for all rare diseases.
NIH’s answer to better servicing the rare disease patient community. NORD provides resources, rare disease information, oppurtunities for rare disease activism, and works with a network of members, advocates, and partners, we make important connections, arrange collaborations, and work to make an impact for every person with a rare disease.
is both a resource and platform for patients to share their healing journeys. By disseminating patient narratives and teaching both effective storytelling & modeling conscientious listening, Patient Worthy brings priceless therapeutic value to patients that long to feel heard, and to an empathic public that is striving to become better listeners.
The Chan Zuckerberg Initiative brings patient advocacy organizations, scientists, and engineers together to tackle complex scientific challenges. Their grant programs that support emerging patient advocacy organizations have helped many patient communities grow and develop by leaps and bounds.
‘The NORD of Europe,’ –EURORDIS – is a non-profit alliance comprised of over 1000 rare disease patient organisations, representing the needs of 30 million rare patients, from 74 countries. They are dedicated to mobilizing the rare disease community, bridging borders and uniting stakeholders in order to improve the care and needs of Rare European patients.
The first, and until now, the only non-profit patient organization representing the needs of patients with an Inherited Bone Marrow Failure Syndrome (IBMFS), a disease that stems from a mutation in the RUNX1 gene. Their education, events, and approach to family support are exemplary and worth learning from.
Rare Patient Services
(*Not Exclusively Non-Profit, Some Mixed Models like Public Benefit Corporations, uniquely positioned/experienced to serve the needs of Rare Patients)
Ethan Perlstein’s PBC is particularly adept at cost saving measures that allow him and the Scientists he has brought on act as Patient Guides to Rare Disease Patients. Navigating the Biomedical world to a therapeutic path for a rare patient is a unique challenge with its own terrain and language. A group like Perlara is particularly efficient at making this seemingly out of reach challenge possible. Lookout for Perlara’s Substack where Perlstein writes about various cases and emerging findings, each one a narrative scientific odyssey that makes for a worthwhile read.
Bringing the Patient to the Trial and the Trial to the Patient – A European based company that Helps Rare Patients navigate The clinical trial -verse, with particular focus on Rare Disease Patients where typical clinical trials are few and far between. For example, this is a story on how they have helped in the case of a rare patient named, Nathan. MD Group also has a Foundation, MD Educational Foundation, aimed at helping kids with Rare Diseases keep up with their education, yet another aspect that makes living with a rare disease particularly challenging.
A New Jersey based lab particularly adept at catering to the needs of Researching Physicians and their patients. By keeping costs low for Rare Disease cases in particular and without cutting any corners in bringing the utmost professionalism to their lab work, Coriell is particularly adept at helping Researching physicians and Rare patients with lab needs like creating and storing cell lines and biospecimens.
Recommended Reading
(*Not Exclusively Non-Profit, Some Mixed Models like Public Benefit Corporations, uniquely positioned/experienced to serve the needs of Rare Patients)
McGinley, a licensed therapist and father of a child with a SAMD9L mutation, wrote this essential guide to balancing caregiving with maintaining the other relationships that matter in life. Insightful, honest, and grounded in lived experience—it’s a must-read for rare disease families.
A Doctor’s race to turn hope into action is a compelling read for us Rare Disease patients as it is a stand-in for all of us Rare Disease Patients, we all hope to accomplish the same.
Driving Discovery Through Partnerships
Collaboration is at the heart of The SAMD9L Foundation's mission. By partnering with leading research institutions and laboratories, the foundation accelerates the search for effective treatments and enhances patient support. Key partnerships include:
Wlodarski Lab at St. Jude Children's Research Hospital
Led by Dr. Marcin Wlodarski, this lab investigates genetic predispositions for bone marrow failure and myelodysplastic syndromes, contributing to a deeper understanding of SAMD9L.
Allenspach Lab at Seattle Children's Research Institute
Under the direction of Dr. Eric Allenspach, this lab focuses on immune dysregulation, studying genetic mutations that lead to diseases like SAMD9L.
Frost Lab at Altos Labs
This lab delves into the molecular mechanisms of biological machines, providing insights that could be pivotal in understanding the cellular processes affected by SAMD9L mutations.
Empowering SAMD9L Patients Through Data and Innovation
JinIX partners with the SAMD9L Foundation to deliver digital health infrastructure, standardized data, and AI-powered research tools. Together, we aim to enhance care, scale clinical research, and accelerate drug development by transforming patient-owned data into community-wide impact.
