People living with rare diseases often find themselves with more questions than answers when it comes to diagnosis and treatment. Symptoms can be unclear, making misdiagnoses common. This is often the case for people living with WHIM syndrome – a rare and difficult-to-diagnose disorder in which the body’s immune system...
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Burton-on-Trent, England – Clinigen, the global pharmaceutical services company, today launched a new campaign called ‘What is Possible?’ to help empower patients and medical professionals to ask what more is possible in the treatment of rare diseases. There are over 7,000 rare diseases impacting over 300 million people globally, and...
At a high school pep rally you would expect to see cheerleaders and mascots, but you wouldn’t expect to see a 6-year-old. On Wednesday at Grandview High school in Aurora, their guest of honor was 6-year-old Maxwell Freed. “Having him back was really special to us,” said senior class president,...
NEW YORK, NY — Columbia University scientists have been awarded a $15 million grant from the NIH’s Ultra-rare Gene-based Therapy Network to design tailor-made gene-based therapies for nine people with rare forms of amyotrophic lateral sclerosis (ALS). Gene-based therapies for ALS have potential for the approximately one in eight patients...
Amanda Judice was doing what many college students like to do on semester break – enjoying a winter ski trip. Then, her world turned upside down, and not from a tumble on the slopes. The 20-year-old product of Fatima and St. Thomas More, a Delta Delta Delta sorority member at...
At the start of the year, pharmacy benefit manager OptumRx predicted that 40% of all new FDA-approved products in 2020 would be orphan drugs. The PBM hasn’t changed that forecast, but it has come out with a bold new prediction about drugs that address small patient populations. Developers of orphan...
A Lakewood family will bike in the 20th annual Children’s Hospital Courage Classic to help raise money for the medical center that has treated their son since birth. Stefan and Brenda Van der Steen will take part in the 3-day tour, which passes through Copper Mountain and Leadville for three...
Researchers from Osaka University develop a collaborative process for involving patients, families and policymakers in the conversation around priorities for rare-disease research Osaka, Japan – Patients with rare diseases have traditionally been the subjects of medical research. However, in recent years, their role has begun to shift from ‘research participants’...
Brave teenager Vicki Wood is felled by terrifying seizures whenever she feels sad, angry, scared – or HAPPY. Her legs buckle and she crashes to the ground up to a dozen times a day. And the 18-year-old now tries to be as boring as possible in a desperate bid to...
CINCINNATI — Shortly after Ryan Dempster and his wife, Jenny, welcomed daughter Riley into the world on April 1, they learned their daughter suffers from DiGeorge syndrome, a rare congenital disease that prevents her from swallowing and digesting food. Dempster has commuted to Childrens Memorial Hospital over the last seven...