Close Menu

Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

The tools are part of Molecular Health's MH Guide platform, which analyzes sequencing data to identify and report on disease-related gene variants.

Under the Ge-Med project, University Hospital Tübingen will offer diagnostic whole-genome sequencing for all genetic indications and will include PRS in its reporting.

The companies will work together to develop new next-generation sequencing-based panels for research and diagnostics of inherited diseases.

The institute offers a rapid whole-genome sequencing test designed to diagnose infants and children suspected of having a rare genetic condition.

Later this year, the inherited cardiovascular disease clinic also plans to implement a preventive genomics program with polygenic risk score and PGx testing.

Nature News reports the US National Institutes of Health is investing in studies of the long-term effects of COVID-19.

The National Health Service is to offer Novartis's Zolgensma for spinal muscular atrophy later this year, according to the Guardian.

Taiwan is to launch a pilot program offering genetic testing to cancer patients, the Taipei Times reports.

In PLOS this week: loci linked to protection against tuberculosis, identification of loci associated with increased risk of squamous cell carcinoma of the aerodigestive tract, and more.

Mar
11
Sponsored by
Foundation Medicine

In this session, the third in the Precision Oncology News Virtual Molecular Tumor Board Series, our expert panelists will review patient cases in which genomic profiling has identified gene fusions that may or may not serve as druggable targets.

Mar
25
Sponsored by
Foundation Medicine

In this session, the fourth in the Precision Oncology News Virtual Molecular Tumor Board Series, our expert panelists will review patient cases in which genomic profiling identified no clear molecular markers to help guide personalized therapy.

Mar
30
Sponsored by
Menarini Silicon Biosystems

This webinar will provide an overview of the current state of circulating tumor cell (CTC) enumeration for clinical use in metastatic breast cancer.