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Case Study Reports

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Case Study Reports

Case Study Reports and Diagnostic Dilemmas/Challenge Cases (Unknown & Rare Knowns)

Publication: All accepted abstracts will be published in Genetics in Medicine Open.

Submission Requirements:

  • Submitters must select the appropriate submission type during submission for their abstract to be considered for acceptance.
  • The choice of submission type is final and cannot be changed after the review committee has reached its decision.

Case Study Reports and Diagnostic Dilemmas/Challenge Cases (Unknown & Rare Knowns)

Case Study Reports and Diagnostic Dilemmas: Three or more cases should be considered a scientific abstract. Case Study abstracts are not eligible for platform presentation or for awards.

Overview:

  • A case study report abstract provides an overview of the symptoms, diagnosis, treatment, and follow-up of an individual patient, especially for unique or rare cases.
  • Diagnostic Dilemmas/Challenge Cases involve presenting rare knowns and unknowns in accredited interactive sessions, offering a platform to share best practices.

Diagnostic Dilemmas/Challenge Cases (Unknown & Rare Knowns) Concurrent Session Options:

  • Laboratory Diagnostic Challenges: Focuses on constitutional and neoplastic cases in molecular, cytogenomic, and biochemical genetics.
  • Medical Diagnostic Challenges: Includes adult and cancer cases.
  • Challenge the Experts - Pediatric and Prenatal Diagnostic Dilemmas: Addresses rare knowns and unknowns.

Submission Options:

  • Case Study Report Poster Presentation Only
  • Diagnostic Dilemmas/Challenge Cases (Unknown & Rare Known) Presentation Only
  • Case Study Report or Diagnostic Dilemmas/Challenge Cases (Unknown & Rare Known) Presentation with Reflex to Poster
    • If not accepted for presentation, the abstract may be accepted as a poster, depending on the score.

CASE STUDY REPORT AND DIAGNOSTIC DILEMMAS ABSTRACT GUIDELINES

SUBMIT ABSTRACT

Topic Categories

ASOs (antisense oligonucleotides)

Gene Therapy

Non-Clinical
Basic Research

General Education

Other Therapies
Cancer

Genetic Counseling

Population Genetics
Clinical - Adult Genomic Medicine Prenatal Genetics
Clinical - Adult and Pediatric Health Care Inequities and Health Disparities Public Health Genetics
Clinical - Pediatric Health Services and Implementation RNA Therapy
Clinical Genetics Laboratory Genetics Social, Ethical and Legal Implications
Enzyme Replacement Therapy Metabolic Genetics Substrate Reduction Therapy

 

ACMG 2025 Abstract Key Topic Categories

  • Biochemical/Metabolic and Therapeutics
  • Cancer genetics and therapeutics
  • Clinical Genetics and Therapeutics
  • Health Services and Implementation
  • Laboratory Genetics and Genomics
  • Prenatal Genetics
  • Research Methods & Resources
  • Ethical, Legal, Social Issues (ELSI), Public Health and Policy

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