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Fourteen-year-old Emily Deacon has a chromosome disorder that is so rare even the specialists don’t have a name for it. She was born with club feet and epilepsy and, as a teenager, still does not speak and is in a wheelchair. When she was first diagnosed, her mum, Liz, said...
Northwestern University researchers have developed a new injectable therapy that harnesses “dancing molecules” to reverse paralysis and repair tissue after severe spinal cord injuries. In a new study, researchers administered a single injection to tissues surrounding the spinal cords of paralyzed mice. Just four weeks later, the animals regained the...
NEW DELHI — Recuperating in the cardiac care unit of Batra Hospital, 20-month-old Stawan Bijal Shah refuses his feed and cries for his mother. He is one of the youngest patients to undergo a coronary artery bypass surgery for a rare disease which damaged his heart. When Stawan was just...
ABOUT THE VIRTUAL GALA November 6, @ 8 PM EDT Presented by the Kissam Family and Mark & Rachel Rohr Family Foundation. Be inspired by stories from our community, hear from IRSF leadership, learn about the incredible work that our foundation is doing to accelerate research and empower families. We’re especially...
Checkpoint with forkhead and ring finger (CHFR) is a mitotic stress checkpoint gene whose promoter is frequently methylated in various kinds of cancer. In gastric cancer, CHFR promoter hypermethylation has been reported to lead to chromosome instability (CIN) and genetic instability is one of the hallmarks of human cancer. A...
NEW YORK – There are currently thousands of health conditions that affect people’s lives for which few or no effective treatment options currently exist. Each one of these conditions is an unaddressed market need in addition to a humanitarian need since these patients and the rare diseases that affect them...