Platform Session 2: Clinical Genetics and Therapeutics
20 Mar 2025
Meeting Room:
Petree Hall C
Clinical Genetics and Therapeutics
,
Laboratory Genetics and Genomics
-
Accredited:
- Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O27- Leveraging Electronic Health Records to Characterize Growth Patterns and Curves in Individuals with Genetic Disease
O29 - Characterization of Liver Disease in RASopathies
O38 - NNZ-2591, a Synthetic IGF-1 Metabolite Analog: Phase 2 Clinical Trial Results for Children and Adolescents with Pitt Hopkins Syndrome
O39 - Infant Testosterone Treatment Does Not Improve Neurodevelopment at 12, 24, or 36 Months for Boys with 47,XXY
O40 - Implementation of Screening Guidelines for Birt-Hogg-Dubé Syndrome Among Smith-Magenis Syndrome Registry Participants: A Caregiver Survey
O57 - Association of Polygenic Risk Scores with Disease Prevalence in Pediatrics: Insights into Obesity, Asthma, Type 1 and Type 2 Diabetes
O27- Leveraging Electronic Health Records to Characterize Growth Patterns and Curves in Individuals with Genetic Disease
O29 - Characterization of Liver Disease in RASopathies
O38 - NNZ-2591, a Synthetic IGF-1 Metabolite Analog: Phase 2 Clinical Trial Results for Children and Adolescents with Pitt Hopkins Syndrome
O39 - Infant Testosterone Treatment Does Not Improve Neurodevelopment at 12, 24, or 36 Months for Boys with 47,XXY
O40 - Implementation of Screening Guidelines for Birt-Hogg-Dubé Syndrome Among Smith-Magenis Syndrome Registry Participants: A Caregiver Survey
O57 - Association of Polygenic Risk Scores with Disease Prevalence in Pediatrics: Insights into Obesity, Asthma, Type 1 and Type 2 Diabetes
Agenda
-
1:30 PM – 3:00 PM -
Leveraging Electronic Health Records to Characterize Growth Patterns and Curves in Individuals with Genetic Disease1:30 PM – 1:45 PM -
Characterization of Liver Disease in RASopathies1:45 PM – 2:00 PM -
NNZ-2591, a Synthetic IGF-1 Metabolite Analog: Phase 2 Clinical Trial Results for Children and Adolescents with Pitt Hopkins Syndrome2:00 PM – 2:15 PM -
Infant Testosterone Treatment Does Not Improve Neurodevelopment at 12, 24, or 36 Months for Boys with 47,XXY2:15 PM – 2:30 PM -
Implementation of Screening Guidelines for Birt-Hogg-Dubé Syndrome Among Smith-Magenis Syndrome Registry Participants: A Caregiver Survey2:30 PM – 2:45 PM -
Association of Polygenic Risk Scores with Disease Prevalence in Pediatrics: Insights into Obesity, Asthma, Type 1 and Type 2 Diabetes2:45 PM – 3:00 PM
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