Genomics And Rare Diseases
48 researchers across 5 institutions
Researchers investigate the genetic basis of rare diseases, seeking to understand the molecular mechanisms that cause these conditions. This work involves analyzing complex genomic data, including whole-genome sequencing, to identify genetic variants associated with diseases that affect small populations. Studies explore how these genetic changes impact cellular function, disease progression, and potential therapeutic targets. Areas of focus include inherited metabolic disorders, neurological conditions, and developmental abnormalities, often employing bioinformatics and computational biology approaches to interpret large datasets.
This research holds particular relevance for Arkansas by addressing the health needs of its citizens. Understanding the genetic underpinnings of rare diseases can lead to improved diagnostic tools and personalized treatment strategies for individuals and families within the state. Furthermore, insights gained can inform public health initiatives and contribute to the growing biomedical sector in Arkansas, potentially fostering innovation and economic development through advancements in genetic medicine and diagnostics.
This field draws upon expertise from a range of disciplines, including genetics, molecular biology, bioinformatics, and clinical medicine. The research is conducted across multiple Arkansas institutions, fostering collaboration and a broad base of inquiry into the complexities of rare genetic conditions.
Top Researchers
| Name | Institution | h-index | Citations | Career Stage | Badges |
|---|---|---|---|---|---|
| Sudhir V. Shah | UAMS | 68 | 20,810 | High Impact | |
| H. Terence Cook | UAMS | 60 | 16,421 | High Impact | |
| Sandra T. Cooper | UAMS | 48 | 7,098 | High Impact | |
| Roy Morello | UAMS | 30 | 4,055 | Grant PI High Impact | |
| Michele Yang | UAMS | 26 | 2,732 | High Impact | |
| Amira Masri | UAMS | 19 | 1,619 | ||
| Elizabeth A. Sellars | UAMS | 18 | 1,426 | ||
| Joseph Andrews | University of Arkansas | 16 | 1,206 | Grants | |
| Ana I. Coelho | UAMS | 13 | 942 | ||
| Jay Kincannon | UAMS | 12 | 1,224 | ||
| Enrique Montoya | UAMS | 12 | 430 | ||
| Milena Dimori | UAMS | 10 | 353 | ||
| Kirt E. Simmons | UAMS | 10 | 391 | ||
| Alexandrea Wadley | UAMS | 7 | 389 | ||
| S Ibrahim | UAMS | 7 | 247 | ||
| Jeffrey Clothier | UAMS | 6 | 248 | ||
| Tarika Srinivasan | UAMS | 6 | 124 | ||
| Lucy Burgess | UA Little Rock | 5 | 314 | ||
| Jill Kelsay | UAMS | 4 | 121 | ||
| A. D'Souza | University of Arkansas | 3 | 42 |
Related Research Areas
Strategic Outlook
Global signals from OpenAlex for this research area: where the field is growing, how concentrated leadership is, and where Arkansas sits relative to the world's top-100 institutions. Descriptive only — surfaced as input to the conversation about where to place bets, not a recommendation. Signal confidence: LOW
Top US institutions in this area
- 1 Harvard University 3,135
- 2 Baylor College of Medicine 2,053
- 3 Broad Institute 1,937
- 4 University of Washington 1,872
- 5 Boston Children's Hospital 1,690
Cross-Institution Connections
Researchers at different institutions with overlapping expertise in Genomics And Rare Diseases.