Evelyn Mantegani, Author at ASHG

Evelyn Mantegani

Personalized Genetic Therapy for Rare Form of ALS Reaches First Patient in Less Than One Year

Personalized Genetic Therapy for Rare Form of ALS Reaches First Patient in Less Than One Year

For Immediate Release: Thursday, October 22, 2026, 4:20 p.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Tamar Grossman, PhD, La Jolla Labs Rockville, Md. – Developing a therapy for a single patient is difficult under traditional drug-development models, particularly when the disease-causing genetic variant is exceptionally rare. A new program... Read More

Genomic Newborn Screening Identifies Actionable Heart Risk in Infants and Their Families

Genomic Newborn Screening Identifies Actionable Heart Risk in Infants and Their Families

For Immediate Release: Thursday, October 22, 2026, 4:15 p.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Wendy Chung, MD, PhD, Boston Children’s Hospital, Harvard Medical School Long QT syndrome is an inherited heart rhythm disorder that can cause life-threatening arrhythmias, but medications, cardiac monitoring, and avoidance of specific triggers can... Read More

Rapid Genome Sequencing Delivers Diagnoses, Guides Treatment for Infants with New-Onset Epilepsy

Rapid Genome Sequencing Delivers Diagnoses, Guides Treatment for Infants with New-Onset Epilepsy

For Immediate Release: Thursday, October 22, 2026, 1:30 p.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Gregory Costain, MD, PhD, on behalf of the Gene-STEPS study Rockville, Md. – Epilepsy beginning in infancy frequently has an underlying genetic cause, but conventional testing pathways can be slow and fragmented. In a... Read More

Noninvasive Fetal Exome Blood Test Detects 97% of Diagnoses Found by Invasive Sequencing

Noninvasive Fetal Exome Blood Test Detects 97% of Diagnoses Found by Invasive Sequencing

For Immediate Release: Thursday, October 22, 2026, 11:00 a.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Michael Duyzend, MD, PhD, Massachusetts General Hospital, Broad Institute, Boston Children’s Hospital, Harvard Medical School Current cell-free DNA screening in pregnancy primarily detects common chromosome abnormalities and selected genetic conditions. Identifying a broader range... Read More

Long-Read Genome Sequencing Could Streamline the Search for Rare Disease Diagnoses

Long-Read Genome Sequencing Could Streamline the Search for Rare Disease Diagnoses

For Immediate Release: Thursday, October 22, 2026, 8:15 a.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Lydia Sagath, PhD, Radboud University Medical Center Rockville, Md. – Diagnosing rare genetic diseases often requires more than 10 separate testing workflows, adding time and complexity to an already difficult diagnostic journey. A prospective... Read More