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Large-scale comprehensive sequencing helps downstream medical care in newborns - Vimarsana News

Large-scale comprehensive sequencing helps downstream medical care in newborns

Researchers who lead the world's first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been followed for 3-5 years.

Study identifies genetic mutations that contr - Vimarsana News

Study identifies genetic mutations that contr

Epilepsy affects approximately 1-in-26 people and the most common form, known as temporal lobe epilepsy (TLE), often cannot be adequately treated with anti-seizure medications. Patients with this form of epilepsy may require neurosurgery to provide relief from seizures.

Chromosomal microarray analysis could help identify the cause of SIDS or SUDC in older children - Vimarsana News

Chromosomal microarray analysis could help identify the cause of SIDS or SUDC in older children

A genetic test known as chromosomal microarray analysis (CMA) could help identify the cause of sudden infant death syndrome (SIDS) or its counterpart in older children, known as sudden unexplained death in childhood (SUDC), finds a study led by Boston Children's Hospital.

Psychotic Symptoms in Children May Have a Genetic Cause - Vimarsana News

Psychotic Symptoms in Children May Have a Genetic Cause

Findings implicate copy number variants (CNVs) in the development of childhood psychosis. Researchers recommend chromosomal array testing for children with psychosis.

Boxun Zhao, PhD is the Recipient of the 2022 ACMG Foundation/David L. Rimoin Inspiring Excellence Award - Vimarsana News

Boxun Zhao, PhD is the Recipient of the 2022 ACMG Foundation/David L. Rimoin Inspiring Excellence Award

/PRNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine is proud to present the ACMG Foundation/David L. Rimoin Inspiring Excellence Award to...