New Haven, CT – Gaucher disease treatment has come a long way in the past three decades. The United States Food and Drug Administration (FDA) approved the first enzyme replacement therapy (ERT) in 1991. That first approval opened the door for other ERT treatments and paved the road for substrate...
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As per the Organization of Rare diseases in India (ORDI), 1 in 20 Indians is affected by a rare disorder. More than 7,000 rare diseases are known and reported worldwide; from these approximately 80 per cent are known to have a genetic predisposition. Some of these “common” rare diseases we’ve...
The family of a four-year-old girl with a rare genetic disorder are looking for auction and raffle prizes to help give something back to two charities that have helped her. Bethany Hepburn, of Washwood Close, Little Hulton, has Wolf Hirschhorn Syndrome, which severely restricts her development and has caused a...
Since Sarah Cohen was diagnosed with a rare form of cancer six years ago, she often has been given little chance of survival by doctors. They underestimated her spirit and determination. Sarah defied the odds to collect an honorary diploma Sunday when her Class of 2009 graduated from Carmel High...
WALLA WALLA — On the day before her graduation from Walla Walla High School, 18-year-old Brittney Woodland spent the afternoon at home. She watched from her front porch as a couple of movers brought a new couch into the living room. “That looks like fun. Can I help?” she said...
DAVENPORT – The Sunshine Foundation, an organization that grants wishes to sick children, will bring to Central Florida 14 young people, mostly children, who were born with progeria, an illness that causes them to age prematurely. The organization’s annual Progeria Reunion will include a picnic and game day at the...
Seven years after the passage of a law advancing the interests of persons afflicted with rare diseases, patients, and other stakeholder groups are still clamoring for government support in terms of adequate funding and implementation of the Integrated Rare Diseases Management Program Strategic Plan. “Persons suffering from rare diseases, sometimes...
In partnership with the Children’s Hospital of Wisconsin and the Genomic Sciences and Precision Medicine Center (GSPMC) at Medical College of Wisconsin (MCW) and sponsored by Orchard Therapeutics, Rare Storytellers Presents: Women and Rare Disease! More than 7,000 rare diseases collectively impact over 350,000,000 people worldwide. Sharing songs and stories unite a strong voice for all...
BELGAUM — He is a big challenge for the medical field. A handicapped boy having innumerous fractures in his body, has been preparing to participate at the national-level swimming competition. Mohin Mustaque Junned, a 12-year-old boy is suffering from a rare disease that causes zero bone calcium. It is called...
SOUTH PLAINFIELD, N.J. – PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced the election of Mary L. Smith to the Company’s Board of Directors. Ms. Smith has previously served as the Principal Deputy Director and CEO equivalent at the Indian Health Service, a $6 billion division of the U.S. Department of Health and Human Services (HHS) and system of hospitals providing...