Rare Diseases - Vacuolar Tauopathy: New, rare genetic form of dementia discovered
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  The latest rare diseases news from News Medical  
 Providing personalized care for bleeding disordersProviding personalized care for bleeding disorders
 
An interview with Dr. Carmen Escuriola-Ettingshausen MD, Hämophilie-Zentrum Rhein Main, Mörfelden-Walldorf, Germany on providing personalized care for bleeding disorders such as hemophilia and von Willebrand disease.
 
   Vacuolar Tauopathy: New, rare genetic form of dementia discoveredVacuolar Tauopathy: New, rare genetic form of dementia discovered
 
A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain -- which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer's Disease -- that could be targeted for new therapies. The study was published today in Science.
 
   Small molecule restores normal heart development in animal model with rare genetic disorderSmall molecule restores normal heart development in animal model with rare genetic disorder
 
A research team at the Greenwood Genetic Center has successfully used small molecules to restore normal heart and valve development in an animal model for Mucolipidosis II (ML II), a rare genetic disorder. Progressive heart disease is commonly associated with ML II.
 
 New mouth spray could help treat patients with rare genetic skin condition
 
New mouth spray could help treat patients with rare genetic skin conditionA new spray for treating severely painful blisters, mouth ulceration and oral scarring in patients with a rare genetic skin condition is being developed by researchers at the University of Birmingham.
 
 
 Researchers identify rare genetic marker that protects against cardiovascular disease
 
Researchers identify rare genetic marker that protects against cardiovascular diseaseAccording to researchers from McMaster University and the Montreal Clinical Research Institute, they have identified a “fountain of youth” in a rare genetic marker that is unique to a few French-Canadian families.
 
 
 Researchers create new tool to understand rare diseases that go beyond treatments
 
Researchers create new tool to understand rare diseases that go beyond treatmentsResearchers from the Universitat Oberta de Catalunya (UOC) and the technology centre Eurecat have developed an innovative formal representation of rare disease data, including information unavailable in current models on the rare disease patient's biological, psychological and social profile.
 
 
 Researchers receive $8.3 million NIH grant to illuminate the causes of spina bifida
 
Researchers receive $8.3 million NIH grant to illuminate the causes of spina bifidaResearchers at University of California San Diego School of Medicine, in collaboration with Rady Children's Institute for Genomic Medicine, have been awarded a five-year, $8.3 million grant from the National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development to further illuminate the causes of spina bifida, the most common structural defect of the central nervous system.