UNC-RARE a rare disease institute proposaldoi:10.6084/m9.figshare.675894.v1S. Ekins
With more than 6,000 different diseases comprising the rare disease (RD) landscape, connecting patients and practitioners with the expertise needed to achieve the correct diagnosis can be a significant barrier to treatment.
Having a rare disease can come with expensive medical bills or families diverting money to pay those bills and trying to figure out how to pay for other necessities.
As expected for an end-stage disease, we found that the risk variants were mainly associated with cirrhosis through known risk factors. The majority of the variants were associated with hepatic lipid metabolism and fatty liver disease, with certain variants (inAPOEandTRIB1) displaying significantly ...
The disease is anincurable neurological conditionwith features of an autoimmune disease, according to theNational Institute of Neurological Disorders and Stroke. Fewer than 5,000 people in the United States are believed tohave the illness, according to the Genetic and Rare Diseases Information Center....
charges for suspected genetic diseases, many of which are rare, in 2012 accounted for ~$57 billion (46%) of the “national bill” for pediatric patients [18]. However, pediatric patient inpatient stays account for only a small component of the total impact of rare disease in health care,...
The most likely disease-causing SNVs/INDELs were analyzed by direct Sanger sequencing, which was also used to investigate the segregation analysis within the family. We described the molecular diagnosis as “definite” based on our overall clinical assessment of whether the variant(s) explained the...
(Skrjabin et Podjapolskaya, 1931), causing nanophyetosis, was described in the ex-USSR in 1928, firstly among the Udugei tribe in the low part of the Amur River basin. An examination of the population of the Amursky region during the 1990s revealed the persistence of this disease’s ...
Funding support for genotyping, which was performed at the Johns Hopkins University Center for Inherited Disease Research, was provided by the NIH GEI [U01 HG004438], the National Institute on Alcohol Abuse and Alcoholism, the National Institute on Drug Abuse, and the NIH contract "High ...
Autosomal recessive polycystic kidney disease (ARPKD) is a less common form of PKD. Its prevalence is estimated to be 1 in 20,000 live births [21]. ARPKD usually manifests during pregnancy or childhood, leading to premature death [22]. Of 50 patients with ARPKD, 24% were diagnosed before...