Will a Haunting Rare Disease Finally Meet Its Match?
In Sanfilippo syndrome, a missing gene, and the critical enzyme it codes, cause a cataclysmic chain reaction in the CNS. What are researchers doing to try and reverse it? Continue reading
Huntington’s Disease: Test Your Knowledge
Huntington’s chorea, or Huntington’s disease (HD), affects about 1 person in every 10,000. Although there have been references to the disease as far back as the Middle Ages,… Continue reading
Mites that Bite, and Fossils in Sight (Abstract Science: Jan. 28 – Feb. 1)
Genetics may determine your bedtime; microscopy images reveal honeybee killer; and new fossil found in frozen south. Continue reading
A Caregiver’s Journey
How Huntington’s disease can affect the ones left in charge Continue reading
Delivering the DNA (DNA)
Gene therapy is arguably one of the most difficult drug strategies in play today. How researchers are using common viruses to shuttle genes to cells Continue reading
Rare Disease Advocates: Selling a Vision (Video)
How two parents of children with rare diseases took different paths in their drive to make a difference. Listen to their stories. Continue reading
Battling Batten Disease
How a South Dakota researcher is trying to arrest a rare disease by studying its origins. A Q&A with Sanford Research scientist Jill Weimer. Continue reading
Rare Disease Research Hits Home for Scientist
What happens when a scientist learns that the gene she studies is the root of her daughter's devastating illness. This New York Times article chronicles this rarest of odds. Continue reading
Repurposing Drugs for Rare Diseases
Two rare diseases show the potential benefits of finding new uses for existing or experimental drugs Continue reading
Probing the Genes of Rare Diseases (Video)
How gene therapy and genomics are changing the game for rare diseases. A video discussion with experts from the Charles River World Congress meeting. Continue reading