At age 15, Becca Salky became her own medical detective, playing a key role in uncovering her diagnosis. Now, as a Clinical Research Coordinator at Massachusetts General Hospital, she focuses on spreading awareness about MOG, finding better diagnostic tools, leading clinical trials, and fighting gender disparity. 

ANGEL AID supports rare families and offers relief services to caregivers through sustainable health and wellness training, transformative retreats, and a globally connective mother-to-mother network.

When it comes to complex, rare diseases, most people don’t think “dermatology.” But they should, says Prince Adotama, MD, a board-certified dermatologist and faculty member at NYU. Dr. Adotama specializes in skin of color care and skin autoimmune disorders, including rare bullous disorders.

The Cure Mito Foundation is a volunteer-run foundation dedicated to advancing education and research for Leigh syndrome and mitochondrial disease.

For over 25 years, the United Mitochondrial Disease Foundation (UMDF) has worked to promote research and education for the diagnosis, treatment and cure of mitochondrial disorder while supporting affected individuals and families.

For parents and other family members of children with disabilities, nothing is more comforting than the voice and wisdom of someone who’s been there—someone who truly understands the ups and downs of living alongside someone with a rare disease or rare disorder. That’s why Theresa Bartolotta decided to offer a podcast.

Jessica Duis, MD is more than a pediatric geneticist. She’s a partner and friend to children and adults who have Angelman, dup15q, and other related syndromes. Throughout her career, she has noticed a need for patients and their families to find community and support within the walls of the hospitals and clinics where they spend so much time.

Learning that your child has a rare genetic disorder is a profound moment for any parent. But imagine finding out for the first time that you have the same disorder too. That was the scenario Becky Tilley faced the day she learned that she, her infant son, and her then-unborn baby all have Koolen-de Vries Syndrome.

When it comes to finding answers about rare disease, nothing is more powerful than a parent’s determination and perseverance. That’s exactly how the Familial Dysautonomia (FD) Foundation came to be in 1951.

When Paul Poth received a rare cancer diagnosis at age 37, it kicked off a series of events that would change the course of treatment for countless other patients. Read on to learn why Paul started TargetCancer Foundation and what is the organization’s main mission.

Joshua Owens, MD, is a genetics resident at Cincinnati Children’s Hospital. Through his work, he encounters families seeking answers to the range of mysterious symptoms and diseases that have genetic origins. Read on to learn about the types of genetic testing that are available today, as well as the benefits and risks of testing.

The Propionic Acidemia Foundation is a 501(c)3 non-profit organization dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.

Anne-Marie McIntyre is a clinical research coordinator and research assistant at Cincinnati Children’s Hospital. Learn more about her educational and professional pathway, which led her to specialize in mitochondrial disease, and her work in research.

Dr. Pushpa Narayanaswami is a neurologist based in Boston, Massachusetts. At the core of her work is to help patients live each day a little better and aid them to achieve their goals of care together. Read on to discover what led her to pursue her field of study and where she sees rare disease research going in the next few years.

At only four years old, Jeremy Lankford already knew that he wanted to be a neurologist. Today, that dream has come true, but what makes that reality even sweeter for the now-veteran physician is that his expertise is focused on improving the lives of kids just like that young version of himself.

Dr. Mary Kay Koenig is a physician with many interests, from chemistry to neurology to children's care—but at the beginning of her medical career, she never could have guessed that mitochondrial medicine would be the specialty where all of her passions intersected.

Bob Coughlin, who today serves as an advisor to life science companies, was never one for thinking small or limiting his ambitions for rare disease patients. Learn how he and his family overcame the obstacles of cystic fibrosis (CF), raising awareness and money to search for a cure.

Dr. Chapman is a leading expert in PA and serves as the director of the mitochondrial disorders clinic at Children’s National. Read on to learn more about Dr. Chapman’s work, and why she feels that clinical trials are a crucial pathway to rare disease therapies.

The Organic Acidemia Association is a non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. Learn more about their patient registry, a new Metabolic balancer app, and their newborn screening resources.

The Genesis Foundation for Children is a non-profit organization that provides wraparound care for children born with rare diseases and genetic disorders. Learn more about their impact and the programs that they fund.

The PMG Awareness Organization is a nonprofit organization of families, caregivers, and medical professionals that support those with Polymicrogyria and raise awareness of this rare disease. Learn more about their goals and upcoming events.

Rare Patient Voice is a market research company that connects patients and caregivers with opportunities to share their opinions with researchers and companies developing medical products, treatments, and services.

The Alagille Syndrome Alliance is an international nonprofit that strives to create a loving and supportive community for all ALGS Warriors. Learn more about their mission and the several goals that they aspire to achieve.

Learn more about the National Society of Genetic Counselors (NSGC), an association which promotes the professional interests of genetic counselors and offers a network for professional communications. Access the full article to read about their mission, vision, and history.

The Center for the treatment of Pediatric Neurodegenerative Disease strives to centralize care for children afflicted with these rare, chronic, and debilitating diseases. The Center includes a multidisciplinary team of physicians and other healthcare providers offering comprehensive services to aid in the diagnosis, management, and social support of children and their families suffering from neurodegenerative diseases.

The National Alliance for Caregiving is an organization that’s dedicated to improving the quality of life for both caregivers and those in their care. With an emphasis on friend and family caregivers, the NAC aims to advance research, advocacy and innovation in all areas of caregiving.

The Myasthenia Gravis Rare Disease Network (MGNet) is a consortium of academic medical centers partnering with the Myasthenia Gravis Foundation of America and Conquer MG as well as collaborators in other research groups and industry. We are working together to enhance therapeutic development for this rare disease.

Nephcure Kidney International's mission is to accelerate research for effective treatments for rare forms of Nephrotic Syndrome, and to provide education and support that will improve the lives of those affected by these protein-spilling kidney diseases. NephCure addresses both individual and over-arching community needs for those with kidney disease.

Alport Syndrome Foundation is the leading patient-led, independent, nonprofit organization in the United States serving and giving a voice to the Alport syndrome community. ASF’s mission is to improve the lives of patients through education, empowerment, advocacy, and investment in research.