Genetic Disease Genome Scientist 
STAT News
MARCH 3, 2023
Next week, hundreds of scientists from around the world will convene in London for an international summit on genome editing. That technology, which enables scientists to easily excise, alter, or replace specific sections of DNA, was awarded the 2020 Nobel Prize for Chemistry. Continue to STAT+ to read the full story…
Worldwide Clinical Trials
JANUARY 24, 2024
Much of what we discuss I covered in my presentation, “Leveraging Genetics to Support Rare Disease Clinical Trials,” at last year’s World Orphan Drug Congress (WODC) EU. Newborn Sequencing is a research initiative that allows for a baby’s full genome to be sequenced at birth, diagnosing their genetic diseases.
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STAT News
MARCH 1, 2023
Genome editing summits are generally friendly, nerdy affairs, but for a moment at a Lisbon hotel last June, the conversation at the FASEB genome engineering conference grew tense. ” It was a rare moment: Tessera had raised around $600 million and passed a $1 billion valuation, but published little in academic medical journals.
XTalks
NOVEMBER 10, 2020
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.
XTalks
AUGUST 29, 2022
CRISPR is notable for engineering living cells, allowing scientists to edit, turn off, delete, or replace genes in a cell’s genome. This technology has powerful implications for therapeutic uses, such as replacing mutated or disease-causing genes or increasing the activity of cancer-fighting cells.
pharmaphorum
JANUARY 18, 2023
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. Why should research be any different?
pharmaphorum
SEPTEMBER 9, 2020
Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.
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