Improving diagnosis for rare genetic disorders using electronic health records
Official title: Using electronic medical record data to shorten diagnostic odysseys for rare genetic disorders in children and adults in two New York City health care settings
Funded at Icahn School of Medicine at Mount Sinai · NIH-11021050 · Data updated 2026-11-12
This study is working to speed up the diagnosis of rare genetic disorders in kids and adults by using health records and smart computer programs to find patients who might need testing, and it also aims to help doctors learn more about genetic testing.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| 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 | February 1, 2024 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $425,804 |
| NIH project number | 5UH3TR004040-04 |
| Project ID | NIH-11021050 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include children aged 0-12 years who are suspected of having undiagnosed rare genetic conditions.
✕Less likely to help
Patients with diagnosed genetic disorders or those outside the targeted age range may not benefit from this research.
What this research studies
This research aims to reduce the time it takes to diagnose rare genetic disorders in children and adults by utilizing electronic medical records. The team has developed algorithms that analyze health data to identify patients who may have undiagnosed genetic conditions. By creating a specialized outpatient clinic, they will evaluate patients flagged by these algorithms and provide necessary genetic testing. The study also includes educating pediatricians about genetic testing and assessing the effectiveness of the new diagnostic approach.
Why it matters
Potential benefit: If successful, this research could significantly shorten the time it takes for patients to receive a diagnosis for rare genetic disorders.
How similar studies have gone: Previous research has shown promise in using electronic health records and algorithms to improve diagnostic processes, indicating potential success for this approach.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Gelb, Bruce D — Icahn School of Medicine at Mount Sinai
- Study coordinator: Gelb, Bruce D
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.