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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

Genome 98
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New Study from NIH Finds Nicotinamide Riboside Helps Improve Telomere Dysfunction in Human Cells, Mice

The Pharma Data

Telomeres degrade and shorten with age and can become excessively damaged in certain genetic diseases, as well as from lifestyle factors such as smoking, poor diet, and chronic stress. Shortening of telomeres is associated with the symptoms of aging, heart disease, DNA damage and uncontrolled cell replication, which can lead to cancer.

DNA 52
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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy.

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Epigenetic Editing with CRISPR Might Be Easier Than We Thought

XTalks

While epigenetic therapies such as DNA methyltransferase (DNMT) inhibitors like azacitadine are used as hypomethylating agents in the treatment of diseases like myelodysplastic syndrome and sometimes in AML, CRISPRoff is the first molecular-based epigenetic tool that could modulate the epigenome to treat disease. pyogenes dCas9.

DNA 98
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Searching for answers in rare epilepsy

pharmaphorum

Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate. He is currently the patient advocacy and engagement lead at Congenica, a digital health company that is investigating the genetic basis of rare diseases.

Genome 102
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Using CRISPR to Edit the Epigenome Might Be Easier Than We Thought

XTalks

While epigenetic therapies such as DNA methyltransferase (DNMT) inhibitors like azacitadine are used as hypomethylating agents in the treatment of diseases like myelodysplastic syndrome and sometimes in AML, CRISPRoff is the first molecular-based epigenetic tool that could modulate the epigenome to treat disease. pyogenes dCas9.

DNA 52
article thumbnail

Searching for answers in rare epilepsy

pharmaphorum

Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate. He is currently the patient advocacy and engagement lead at Congenica, a digital health company that is investigating the genetic basis of rare diseases.

Genome 80