Joubert Syndrome is a rare ... [1] On a daily basis, the genetic origins of many common and not-so-common conditions are uncovered. A myriad of new single-gene defects and syndromes are reported ...

Jan. 30, 2025 — A research group has developed new advanced light-controlled tools that enable precise control of proteins in real time in living cells. This groundbreaking research opens doors ...

other genes within 17p11.2 contribute to the variable features and overall severity of the syndrome. Statistical analysis was performed with the JMP statistical software, version 5.1 (SAS ...

Gene therapy is a disruptive technology which heralds a new chapter in the way that rare genetic diseases will be treated. But it isn’t just a new way to transform clinical outcomes.

Jan. 30, 2025 — A research group has developed new advanced light-controlled tools that enable precise control of proteins in real time in living cells. This groundbreaking research opens doors ...

The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, ...

Adeno-associated viruses (AAV) have emerged as the lead vector in clinical trials and form the basis for several approved gene therapies for human diseases, mainly owing to their ability to sustain ...

Diabetes Test Results: Types of Tests and How to Read Them If you or someone in your family has diabetes, you might be wondering if it is genetic. There are different types of diabetes. For each type, ...

After hours: January 31 at 4:02:49 PM EST Loading Chart for FLGT ...