Close Menu

rare disease

The partnership combines sequencing with phenotype information to help diagnose patients with rare diseases. 

This is the first US Food and Drug Administration approval for a drug based solely on data from a basket study.

The Qiagen-led Allele Frequency Community, founded in 2015, is improving the diagnosis of rare diseases by offering ethnically diverse reference sets.

PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.

Qrativ, a joint venture of Mayo Clinic and Nference, seeks new treatments for rare diseases by coupling Mayo research with publicly available genomic data sets.

Polygamy amplified a rare genetic disease in area near Arizona-Utah border, BBC Future reports.

Exome or targeted sequencing on members of families affected by Carey-Fineman-Ziter syndrome led to mutations in the MYMK gene that impact muscle cell fusion.

An exome sequencing analysis of individuals from eight families led to homozygous loss-of-function mutations in CD55 and ties to complement system activity.

Centogene said it will use the funds to accelerate growth and expansion in the areas of genetic testing, pharmaceutical collaborations, and big-data solutions.

Sanford Health is teaming up with Genome.One to incorporate patient-generated data into WGS outputs to help elucidate the genetic basis of rare diseases.

Pages

A new analysis finds some cancers receive more nonprofit dollars than others.

A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.