Genetic Disorders: Page 2

Toxic protein linked to both muscular dystrophy and arhinia

DUX4, a toxic protein made by the body, may cause two different rare genetic disorders: FSHD2 muscular dystrophy, and a facial malformation called arhinia.

February 17, 2023

Study finds 41% of infant deaths associated with genetic diseases

Researchers have found the genetic disease contribution to infant deaths to be higher than expected; neonatal diagnosis strategies may decrease infant mortality.

February 9, 2023

BillionToOne announces clinical data on NIPT for recessive conditions

The firm's Unity Screen is designed to assess fetal risk of recessive conditions such as cystic fibrosis, sickle cell disease, the thalassemias, and spinal muscular atrophy.

December 6, 2022

Sema4|GeneDx announces study results on mitochondrial disease testing

The study, undertaken with 966 infants in NICUs, found that nearly 10% of infants referred for exome sequencing plus mtDNA testing were diagnosed with a mitochondrial disorder, accounting for 29% of diagnostic cases overall.

December 5, 2022

Bionano to use OptraHealth's AI platform for genetic counseling

"We have chosen to incorporate the HealthFax platform into the Bionano Laboratories workflow with the intent to increase operational efficiencies while also improving the overall experience for our clients," Erik Holmlin, president and CEO of Bionano Laboratories' parent company, Bionano Genomics, said in a statement. "With the implementation of these new tools, Bionano Laboratories will be able to scale as it expands services in the future."

September 25, 2022

Illumina brings whole-genome sequencing to German hospital

Under the project, the diagnostic efficacy of rWGS will be evaluated in the institution's neonatal and pediatric intensive care units, according to the company. At least 100 critically ill children with suspected genetic disorders will be tested, as well as their parents when possible.

April 26, 2022

Low-volume test platform from Baebies wins 'disruptive tech' award at AACC

In the third annual edition of the Disruptive Technology Award competition, Baebies won the award for Finder, a near-patient testing platform featuring a toaster-sized instrument and disposable cartridge. Powered by digital microfluidics technology, Baebies' Finder tests for diseases using low sample volumes with a turnaround time of approximately 15 minutes after sample introduction.

December 14, 2020

Natera prenatal test gets extended insurance coverage

The move comes on the heels of a joint guideline released by the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) that supports aneuploidy screening options, including NIPT, to all women, regardless of age or baseline pregnancy complication risk.

October 7, 2020

Natera's prenatal testing coverage expands

The increased coverage comes after the Society for Maternal-Fetal Medicine recommended that prenatal office visits be reduced during the COVID-19 pandemic, Natera said. Panorama tests can be accessed through Natera without a live office visit, according to the firm.

April 5, 2020

Invitae acquires AI firm Diploid for $95M

Diploid's main product is its Moon AI software, which allows geneticists to upload sequencing data, a patient's symptoms, and the patient's age and quickly identify mutations that may be causing the person's condition. It is driven by a proprietary gene-disorder model and a regularly updated genetic evidence database, Invitae said. In a pilot study, Invitae and Diploid found that Moon identified causal mutations in 94% of 150 exome cases.

March 10, 2020

Gene panel finds root of neuroinflammatory symptoms in kids

Neuroinflammatory conditions -- severe disorders in the brain and spine -- are increasingly common in pediatric patients and may manifest as seizures, encephalopathy, focal motor deficits, and other symptoms. But the causes are diverse, which presents a challenge for identification and could lead to delays in diagnosis. A monogenic disease may be at the root of the problem, but the high expense of genetic testing puts it out of reach for routine use in the clinic.

October 30, 2019

Lineagen reports high accuracy for fragile X genetic test

The Salt Lake City-based company specializes in genetic testing for autism spectrum disorder and other conditions associated with developmental delays.

October 28, 2019

Previous Page

Page 2 of 3

Next Page