Gena

Unlocking Rare Disease Diagnosis in Real-Time Using AI and Genetic Databases

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AI and Genomics Transforming Patient Care

Artificial Intelligence (AI) and Genomics is an increasingly vital intersection of disciplines, combining the computational power of AI with the biological insights of genomics. AI plays a transformative role in genomic medicine, a field that uses information from an individual’s genome to guide diagnosis, treatment, and prevention of disease

Genomics provides some of the most valuable information about the human condition present and future. Yet, is one of the least understood sciences in the medical profession. There are 5,000 geneticists in the U.S., yet there are over a million primary care, pediatricians, and specialists. How do we empower them with the critical value of genomics? Welcome Artificial Intelligence! AI brings the knowledge of genomics in context to the medical practice with high-quality data from trusted sources with record speed and accuracy. Proactive, Predictive, and Personalized Medicine is here!

Klaas Wierenga, MD, MSc, DACMG


Dr. Wierenga is a Clinical Geneticist who has been practicing for over twenty years, most recently serving as a Professor and the Chief for the Division of Genetics and Metabolism, Department of Pediatrics, at the University of Florida in Gainesville.

Dr. Wierenga’s extensive educational journey includes receiving his MSc in Biology, his MS in Medicine and his MD from Groningen State University, Groningen, Netherlands. He completed his residency in Pediatrics/Child Health at the University of the West Indies, in Kingston, Jamaica and the University of Miami/Jackson Memorial Hospital in Miami, Florida.

Dr. Wierenga is board certified in both Medical Genetics and Biochemical Genetics and is licensed in Florida.

In addition to his extensive medical career, his lengthy list of honors and awards, and his extensive professional service experiences, Dr. Wierenga is a noted lecturer, educator and mentor, sharing his extensive expertise and knowledge with medical students, professionals and peers for the past two decades.

  • Utilization of Phenotype-driven Databases In Rare Disease Diagnostics
  • Revolutionizing Diagnosis: How AI & Genomics Are Transforming Patient Care
  • Disruptive Aspects Of Rare Diseases
  • How Many Rare Diseases Are There?
  • Diagnostic Odyssey
  • Phenotyping A Patient
  • Genotyping A Patients
  • OMIM: GALT & Galactosemia
  • OMIM Phenotype Search Feature
  • OMIM Vocabulary
  • OMIM: Clinical Synopsis
  • Human Phenotype Ontology
  • The HPO Database
  • Phenotype Searching Using GENA
  • Searching For Multiple Clinical Features
  • Clinical Examples
  • Vignette For Learners
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Real-Word Experience: Work through rare-disease scenarios step by step and see how AI plus curated genomic databases change the speed and accuracy of diagnosis as you learn.
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Software Trial Included: Get temporary access to GENA Screen and practice phenotype searches, gene prioritization, and test selection inside a simplified clinical workflow you can replicate later.
Knowledge Checks Icon
Knowledge Checks: Scenario-based quizzes reinforce each concept and build confidence using phenotype terms, OMIM, HPO, and AI tools in real practice.
Study Notes Icon
Study Notes: Grab concise summaries, vocab cheat sheets, and workflow tips—perfect for review, boards prep, or integrating GENA Screen into clinic.
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Certificate of Achievement: Finish the course, claim your CME, and showcase a certificate proving hands-on experience with AI assisted genomic diagnostics.