Genomics And Rare Diseases

48 researchers across 5 institutions

48 Researchers
5 Institutions
2 Grant PIs
5 High Impact

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.

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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

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

Global trajectory
11,149 works in 2026
+9.4% CAGR 2018–2026
Leadership concentration
9.3% held by global top 5 institutions
Fragmented HHI 63
Arkansas position
Arkansas not in global top 100
No AR institution among the top-100 contributors to this topic over the 2018–2026 window.

Top US institutions in this area

  1. 1 Harvard University 3,135
  2. 2 Baylor College of Medicine 2,053
  3. 3 Broad Institute 1,937
  4. 4 University of Washington 1,872
  5. 5 Boston Children's Hospital 1,690

Cross-Institution Connections

Researchers at different institutions with overlapping expertise in Genomics And Rare Diseases.

67%
A. D'Souza University of Arkansas
63%
A. D'Souza University of Arkansas
58%
Anapaula Rojas University of Arkansas
Robert Weinstein University of Arkansas
56%
55%
Robert Weinstein University of Arkansas
Anapaula Rojas University of Arkansas
55%
55%
Austin Bell University of Arkansas
A. D'Souza University of Arkansas
54%
Julienne Daniel University of Arkansas
54%
Robert Weinstein University of Arkansas
52%

Researchers with Federal Grants

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