Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…
The Carroll family recently welcomed their daughter Renesmee into the world. They immediately checked for symptoms of Batten disease, a rare, fatal nervous system disorder, as two of Renesmee's siblings…
Neurogene, which works to provide treatments for rare neurological disorders, has recently joined with Behind the Seizure. Behind the Seizure was established by two other companies, BioMarin and Invitae, with…
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All parents have fears for their children, but few of them expect their child to be diagnosed with a disease so rare there are only 2-4 diagnoses for every 100,000…
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A guest speaker at the 2019 Rare Disease Forum recently held at the North Carolina Biotechnology Center acknowledged that screening is necessary to justify the need for a particular…
According to a story from Technology Review, the story of Mila Makovec shows the potential impact that personalized medicine could have on patients while also revealing some of its limitations.…
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Mila Makovec began her life as a normal, healthy infant, and according to a recent article in Science Magazine, she continued along this path until reaching the age of…
According to a story from derbytelegraph.co.uk, four year old Michal Myslicki, who was born with Batten disease, will soon get access to a critical treatment that will prolong his life.…
According to a recent publication from Express Digest, England's National Health Service (NHS) has reversed its earlier position on a rare disease drug after lengthy public debate, now agreeing to…
According to a publication from Fabry Disease News, Amicus Therapeutics has as many as 14 investigational drugs currently in development for the treatment of rare diseases including Fabry, Pompe, and…
According to a story from globenewswire.com, gene therapy, a current hot topic in the medical field, is continuing to make headlines. The drug company Amicus Therapeutics recently announced that a…
Are we ready for our close-up? The second annual Selections from DISORDER: The Rare Disease Film Festival at Biotech Week Boston will be held at the Takeda Auditorium in Cambridge,…
According to a story from the St. Helens Star, Claire Riley, the mother of Kaycee Bradshaw, said in a recent statement that she would not hesitate to move out of…
According to a story from Market Screener, the biopharmaceutical company Theranexus and the Beyond Batten Disease Foundation (BBDF) have recently signed an agreement to work towards the continued development of…
Researchers are studying gene replacement therapy in rare diseases at UT Southwestern Medical Center. Many rare diseases are caused from a defect in a single gene, so replacing the defective…
According to a story from globenewswire.com, the gene and cell therapy company Abeona Therapeutics, Inc. has recently announced that its experimental gene therapy ABO-202 has earned Fast Track designation from…
According to a story from Global News, Charleigh, the three year old daughter of Trevor Pollack and Jori Fales, was recently diagnosed with CLN2 Batten disease, which is a rare…
According to a story from CBS Minnesota, the Wahlstrom family has been hit hard by a deadly rare illness called Batten disease. Parents Todd and Laura's two children, Drew and…
According to a story from Express Digest, Lucy and Mike Carroll don't know for how much longer their children will be able to live happy lives. This is because their…
According to a story from apnews.com, the gene and cell therapy company Abeona Therapeutics, Inc., has recently announced that the US Food and Drug Administration (FDA) has given the company's…
The Problem Lysosomal storage disorders (LSDs) affect approximately one out of every 7,000 people. There are around 50 different types of LSDs. These include Fabry disease, Batten disease, Gaucher disease,…
According to a story from Mirror Online, parents Gail and Matthew Rich were devastated when they heard the news that a critical treatment for Batten disease was rejected for coverage…
According to a story from BioPortfolio, Rare Disease Day, which took place on February 28th, 2019, serves as a time of reflection on the progress that has been made in…
Avraham Steinberg recently spoke at RARE2019, the 2nd International Congress on Advanced Treatments in Rare Diseases. It was held on March 4th and 5th in Vienna, Austria. His talk focused…
According to a story from Statesman Journal, nine year old Haley Pollman isn't so different from most other girls her age. She loves dresses, Barbie dolls, and animals, and still…
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