Understanding how mutations in potassium channels affect a specific genetic disorder.
Structural Pharmacology of GIRK Channel Disease Mutants
['FUNDING_R01'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-11133493
This study is looking into how changes in a specific potassium channel, linked to Keppen-Lubinsky Syndrome, affect its function and cause serious neurological issues, with the hope of creating new treatments for people with this condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11133493 on ClinicalTrials.gov |
What this research studies
This research investigates the molecular mechanisms behind mutations in the GIRK2 potassium channel that are linked to Keppen-Lubinsky Syndrome (KLS). By using advanced techniques like cryo-electron microscopy, the team aims to understand how these mutations alter the channel's function, leading to severe neurological symptoms. The research will also focus on developing new inhibitors that specifically target the mutated GIRK2 channels, which could provide a novel treatment approach for affected patients. The goal is to provide insights that could lead to effective therapies for KLS, a condition currently lacking targeted treatments.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Keppen-Lubinsky Syndrome or those with related GIRK2 mutations.
Not a fit: Patients with other types of channelopathies not involving GIRK2 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to the development of targeted therapies for patients with Keppen-Lubinsky Syndrome.
How similar studies have performed: While research on GIRK channels is ongoing, this specific approach to targeting KLS mutations is relatively novel and has not been extensively tested.
Where this research is happening
NEW YORK, UNITED STATES
- ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SLESINGER, PAUL A — ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- Study coordinator: SLESINGER, PAUL A
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Cantu syndrome