Prion diseases cause dementia, but not Alzheimer's disease. Different genes and proteins are involved in Alzheimer’s. But in all these diseases, including Alzheimer’s, the cause is proteins that don't work the way they should and damage brain cells. Alzheimer's symptoms may get worse slowly...
“I saw many patients with rare diseases who had to reduce their medication frequency and even give up treatment due to high drug prices. It made me feel very sad,” To said, adding that it often takes several years...
Collectively, these features indicate the heterozygous deletion of the Gabrα1 subunit gene is sufficient to cause an absence-like phenotype in mice, but is not sufficient to induce the more typical Dravet-like seizures present in patients expressing mutations in GABRα1. Seizure correlations ...
Because genetic diseases often appear early in life, 40 percent of the cases he accepts are children. [William Gahl: There's Bryce.] Bryce Bennett is four years old. He suffers from seizures that began soon after he was born. His parents, Jerry and Tara, have been on a frustrating medic...
Background and Aim In Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were identified, and almost 80% of them have a genetic cause. Many rare disorders are characterised by a broad diversity of common symptoms and ...
Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attrac
advocates almost a decade later, Melissa Hogan’s story is raw and riveting. She describes the reality of her son living with mucopolysaccharidosis II, or Hunter syndrome, as “beautifully heartbreaking”—a sentiment that rings true for so many parents raising children with rare diseases. ...
(frequency = 0.013% and 0.0051%, respectively). It is detected at even lower frequencies in samples from Denmark, with no carriers detected in Norway or Finland. This variant has been reported in case studies of rare neurological disorders, including benign infantile seizures and paroxysmal ...
On the other hand, rare genetic diseases with a cellular effect can also cause a lot of perplexities and issues for children who are victims of RGD. For instance, the Niemann-Pick Disease is a typical cellular genetic disease. Niemann-Pick disease (NPD) is inherited in an autosomal recessive...
is powerful in its own right and can provide insights into rare human diseases that DNA cannot. Stephen Montgomery, Ph.D., associate professor of pathology and of genetics at the School of Medicine, is among the scientists harnessing RNA to identify the cause of rare diseases that have eluded...