Clinical questions. Practical possibilities.

Research & AI

Dr Ghaffari’s work in clinical genetics, genomic diagnostics and the application of AI and digital tools.

Research

Research & clinical interests

Clinical genetics: Evaluation of inherited disorders across prenatal, pediatric and adult care.
Genomic diagnostics: Application and interpretation of sequencing, copy-number and cytogenetic methods.
Reproductive genetics & preimplantation testing: PGT-A, PGT-SR and PGT-M; prenatal screening and diagnosis; infertility and recurrent pregnancy loss.
Precision medicine: Connecting molecular findings with clinically meaningful decisions and follow-up.
AI experience in clinical applications: Responsible use of artificial intelligence to support clinical workflows, interpretation and medical communication.
Research & education: Collaborative studies, laboratory development and communication of genetic knowledge.
Application development capabilities: Clinical requirements, workflow design, AI-assisted implementation and acceptance testing for research, education and laboratory applications.

Mucopolysaccharidosis (MPS): Molecular characterization and diagnostic reassessment, including the IMPRESsion study of 302 patients from 289 families.
Inherited retinal disease & retinitis pigmentosa (RP): Targeted and exome sequencing, molecular diagnosis and genotype–phenotype studies in inherited retinal disorders.
Newborn screening (NBS): Research and implementation experience in screening for inherited metabolic disorders using tandem mass spectrometry (MS/MS).
Down syndrome & prenatal screening: Evaluation of prenatal-screening risk software, analysis of screening data and a national program evaluating 500 screening laboratories.

AI-assisted application development & clinical informatics

Clinical requirements, workflow design, AI-assisted implementation and acceptance testing for laboratory and counseling applications.

Clinical workflow applications: Configurable workflows, role-based access, structured evidence and controlled reporting.
Bilingual clinical portals: Patient intake, document handling, counselor work queues and follow-up workflows.
Laboratory information systems: Test catalogs, specimen workflows, quality documentation and reporting; laboratory information systems remain development projects.