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2 articles from the last 90 days matching "rare genetic disorders"

ResearchPUBMEDMar 26

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Researchers created a new method to build growth charts for children with rare genetic disorders. Instead of needing thousands of patients, this method uses a smaller group of patients and compares their growth to standard growth charts. They tested it on six rare genetic disorders and found it works well, which could help doctors track whether children with these conditions are growing normally.

WHY IT MATTERSParents and doctors caring for children with ANKRD11, ARID1B, ASXL3, DDX3X, KMT2A, or SATB2-related disorders can now use gene-specific growth charts to monitor their child's growth instead of comparing to general population standards that don't apply to their condition.
💬 Ask your doctorANKRD11-related disorderARID1B-related disorderASXL3-related disorderRead →
Clinical trialCLINICALTRIALSMar 26

Trial Now Recruiting: Genome Medical Sequencing for Gene Discovery (NCT01087320)

Researchers are recruiting 2,000 people with rare genetic disorders to participate in a study using a new technology called genome sequencing. This technology reads a person's entire genetic code to find which gene is causing their disease. The goal is to help doctors better diagnose and treat patients with rare conditions that are hard to identify with current testing methods.

WHY IT MATTERSIf you or a family member has an undiagnosed rare disorder affecting development or birth defects, this trial could identify the genetic cause—potentially opening doors to targeted treatment and genetic counseling for relatives.
You can act on thisIntellectual DisabilityCongenital AnomaliesRare Genetic DisordersRead →

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