The Knights Templar Eye Foundation recently awarded the Career Starter Grant to Jennifer Rossen, MD, Attending Physician and Clinical Practice Director, Division of Ophthalmology, at Ann & Robert H. Lurie Children’s Hospital of Chicago. The $90,000 grant will fund her work to standardize crystallin gene-disease associations and variant interpretation, develop an accelerated approach for ocular gene and variant curation, and, subsequently, improve treatment avenues for children with cataracts.

Pediatric cataracts are a significant cause of vision loss. Approximately half of cases have an identifiable genetic etiology, which can lead to personalized recommendations regarding ocular screenings, predicted visual outcomes, and potential systemic comorbidities. This information is useful for clinicians and families alike, and in some cases can significantly decrease disease morbidity. However, genetic testing for pediatric cataracts is unstandardized and inconsistent in terms of gene content and variant interpretation across laboratories. To standardize genetic testing for pediatric cataracts and improve diagnostic yield, gene-disease associations and variant curation guidelines per the National Institutes of Health-supported Clinical Genome Resource are needed. Although Clinical Genome Resource efforts define clinical relevance of genes and variants for use in precision medicine and research, it is left to each research group to procure the necessary funding.

To expedite this work for pediatric cataracts, Dr. Rossen will complete gene-disease associations and variant curation guidelines for the crystallin genes, which are associated with approximately half of all autosomal dominant cataracts, by standard methods and compare it to an accelerated artificial intelligence (AI)-supported method. Once validated, the AI-supported method will be employed for future ocular gene curation, driving greater advances in ocular genetics research. Further, Dr. Rossen will establish a prospective registry for individuals with crystallin-associated cataracts to bolster phenotypic data and better predict ocular outcomes for children. 

Dr. Rossen, who is also Associate Professor of Ophthalmology and Pediatrics at Northwestern University Feinberg School of Medicine, will collaborate with the following experts from Lurie Children’s and Feinberg School of Medicine.

  • Brenda L. Bohnsack, MD, PhD, Division Head of Ophthalmology at Lurie Children’s; Associate Professor of Ophthalmology and Pediatrics at Feinberg School of Medicine
  • Andrew Drackley, MS, CGC, Genetic Counselor at Lurie Children’s
  • Adam Gordon, PhD, Assistant Professor of Pharmacology at Feinberg School of Medicine
  • Alexander Ing, MS,CGC, Genetic Counselor at Lurie Children’s; Assistant Professor of Pediatrics (Genetics, Genomics, and Metabolism) at Feinberg School of Medicine
  • Patrick McMullen, PhD, Director of Bioinformatics at Lurie Children’s; Associate Professor of Pathology at Feinberg School of Medicine
  • Andrew Skol, PhD, Bioinformatics Scientist at Lurie Children’s
  • Allison Weissman, MS, CGC, Genetic Counselor at Lurie Children’s; Assistant Professor of Pediatrics (Genetics, Genomics, and Metabolism) at Feinberg School of Medicine

Pediatric research at Ann & Robert H. Lurie Children’s Hospital of Chicago is conducted through Stanley Manne Children’s Research Institute.