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genetic disorders

RNA Editing Startup Amber Bio Raises $26M in Seed Funding

The San Francisco-based company aims to use its technology to develop treatments for genetic diseases with high allelic diversity.

NIH Funds $140M Program to Catalog Somatic Mosaicism in Humans

Supported by the institute's Common Fund, the program aims to accelerate research on human development, aging, and disease.

Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study

The GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns) study plans to screen 100,000 newborns for up to 250 rare genetic conditions.

UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants

The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases.

Sick Infants Profiled With WGS See Better Diagnosis, More Care Changes

The results shore up prior studies and add to the growing evidence for the benefits of rapid whole-genome sequencing in critically ill newborns.

Sep 17, 2021

New Facial Analysis Tool From Children's National Hospital Screens for Genetic Diseases
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Jul 15, 2021

Takeda Pharmaceutical, Rady Children's Partner on Rare Genetic Disease Drug Development

Feb 3, 2021

Intermountain Primary Children's Hospital Launches HerediGene Children's Study

Jan 15, 2021

Bionano Genomics Stock Soars on User Presentations, Public Stock Offering, Renewed Nasdaq Compliance

Oct 7, 2020

Children's Mercy Hospital Raises $16M for Pediatric Genomic Repository Initiative

Aug 3, 2020

Pacific Biosciences, Asuragen Collaborate on Clinical Assays

Jun 15, 2020

Yourgene Health Gets CE Mark for Iona NIPT Test

Jun 2, 2020

Ravgen Sues Natera Over Cell-Free DNA Genetic Testing Patents

May 5, 2020

Invitae Q1 Revenues Grow 58 Percent

Apr 27, 2020

Illumina Loses Appeal for Injunction Against Ariosa Diagnostics, but Court Upholds $27M Judgment

Apr 13, 2020

Natera Expects 35 Percent Rise in Q1 Revenues, Proposes $250M Senior Notes Offering

Mar 17, 2020

US Appeals Court Overturns Roche Win in Illumina NIPT Suit

Jan 9, 2020

Mayo Clinic, Helix Partner for 100K-Patient Clinical Genomics Study
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Dec 11, 2019

Study Shows Feasibility of Circulating Trophoblast-Based Noninvasive Prenatal Testing
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Nov 8, 2019

Some Call for Expanded Payor Coverage of NIPS but Reluctance Remains
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Sep 16, 2019

Fulgent Genetics Taps PWNHealth to Oversee New Tests Marketed to Consumers

Sep 13, 2019

Natera Finds High Performance for Noninvasive Prenatal Test in All Age Groups
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Jul 10, 2019

NIPD Genetics Enters Cancer Dx Market, Expands Prenatal Testing
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Apr 24, 2019

Rady Team Automates Rapid Pediatric Sequence Interpretation for Rare Disease Dx

Apr 23, 2019

Illumina, Chinese Children's Hospital to Launch Newborn Sequencing Study

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The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.