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rare disease

Some Guarded Hope

The Deseret News reports that families with children with rare genetic diseases are cautiously optimistic about CRISPR-based gene editing as a treatment.

Following some major integration issues and other data challenges, Stanford is preparing to expand genomic medicine beyond rare diseases and cancer.

Researchers profiled cancer gene mutations, expression, protein patterns, and other features in 23 recurrent or metastatic cases of olfactory neuroblastoma.

Genomics England, which runs the UK's 100,000 Genomes Project, has tapped Edico to reprocess thousands of whole genomes for diagnosing rare diseases.

The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.

Parents raise money for research into the rare genetic disease affecting their children, ABC News reports.

The creator of the Genome Aggregation Database sees an ever-expanding GnomAD database as a centerpiece to improving the diagnosis of rare diseases.

Congressional lawmakers weigh ending a tax credit that encourages the development of drugs for orphan diseases, the New York Times reports.

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.

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In PLOS this week: Mycobacterium abscessus linked to gastric conditions, placental gene expression changes associated with preterm birth, and more.

The Guardian reports that UK universities are looking into ways to reduce labs' reliance on single-use plastics.

People with certain gene variants tend to not like vegetables, particularly bitter ones, CNN reports.

MIT's Technology Review reports on a company's genetic test that gauges an embryo's susceptibility to certain diseases.