Understanding how mutations in potassium channels affect a specific genetic disorder.
Official title: Structural Pharmacology of GIRK Channel Disease Mutants
Funded at Icahn School of Medicine at Mount Sinai · NIH-11133493 · Data updated 2026-11-12
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
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 1, 2025 |
| Project end | March 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $525,436 |
| NIH project number | 1R01NS138507-01A1 |
| Project ID | NIH-11133493 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Keppen-Lubinsky Syndrome or those with related GIRK2 mutations.
✕Less likely to help
Patients with other types of channelopathies not involving GIRK2 mutations may not benefit from this research.
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.
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 gone: 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
-
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
Related research
Other NIH-funded projects on the same topics.
-
Improving Breast Cancer Guideline Adherence in Nigeria
Aimed at helping doctors in Nigeria follow international guideline-based breast cancer care to improve outcomes for women with breast cancer.
-
Genetically Validated PCOS Subtypes for Better Diagnosis and Risk Stratification
Aimed at women with polycystic ovary syndrome (PCOS), this project uses genetic data and patient characteristics to define distinct PCOS subtypes and improve how we diagnose and estimate risk.
-
Closed-loop control of interneuron timing to influence seizures and memory in epilepsy
A study tests a brain-quieting system that uses light to precisely time certain brain cells in epilepsy-prone mice to see if this can lessen seizures and improve memory.
-
Understanding why some brain regions and cells accumulate tau in Alzheimer’s and related diseases
Researchers are studying why certain brain areas and neuron types accumulate tau protein in Alzheimer’s and related conditions, and how this leads to brain changes and symptoms.
-
Improving blood flow after stroke by breaking down NETs
Aims to see if breaking down neutrophil extracellular traps (NETs) after an ischemic stroke can improve blood flow and reduce brain injury in patients.
-
Aging and brain injury connection: learning how late-life TBI relates to Alzheimer’s and related dementias
This grant looks at whether traumatic brain injuries in people 65 and older are linked to Alzheimer’s disease and related dementias, using a large, harmonized set of long-term aging studies.
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.