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rare disease

Researchers from the US, Belgium, and elsewhere described a chromosome X microduplication and related recurrent gene mutation that can cause gigantism and acromegaly.

Canadian Rare Diseases Models and Mechanisms network receives C$2.3 million to support model organism research

With exome sequencing, researchers unearth a recurrent mutation behind a rare condition called progressive myoclonus epilepsy.

NEW YORK (GenomeWeb News) – Patient advocacy groups Global Genes and Swan USA announced on Tuesday a program to provide whole-exome sequencing to patients with rare diseases who cannot afford such services.

NEW YORK (GenomeWeb News) – The New York Stem Cell Foundation Research Institute is collaborating with the National Institutes of Health’s Undiagnosed Disease Program to create stem cell lines from patient’s cells that can be used to model and study their diseases in vitro.

NEW YORK (GenomeWeb News) – The Canadian Institutes of Health Research and Genome Canada plan to provide C$2.3 million (US$2.2 million) to fund a national network to help clinical researchers studying genes involved in rare diseases to partner with experts in model organisms, CIHR said yesterday.

NEW YORK (GenomeWeb News) – The Translational Genomics Research Institute held a ribbon-cutting today to launch a new clinic within the Center for Rare Childhood Disorders that will focus on using genomic and molecular techniques to diagnose and treat such disorders.

NEW YORK (GenomeWeb News) – The government of Ontario recently announced about C$7 million (US$6.7 million) in new funding for four large-scale genomics projects.

NEW YORK (GenomeWeb News) – Ten institutes at the National Institutes of Health plan to provide $17.5 million in funding next year to support a network of as many as 14 consortia that will pursue clinica

NEW YORK (GenomeWeb News) – The National Institutes of Health plans to provide $5 million in funding over the next few years to create a DNA sequencing core facility that will support its Undiagnosed Diseases Program.

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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.