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spinal muscular atrophy

Molecular SMA Testing in Newborns on the Rise as Countries Add Screening Programs
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State labs and commercial companies see rising spinal muscular atrophy test volumes as screening programs launch in US states and European countries, among others.

Fauna Bio Gets $373K NIH Grant to Study Animal Genomes for Potential Drug Targets

The company is studying hibernating animals to see if their genomes contain novel biological pathways that could be exploited to counteract complex human diseases.

Asuragen Receives CE Mark for Spinal Muscular Atrophy Assay

The test can help diagnose spinal muscular atrophy and identify carriers without symptoms who may be at risk of passing the disease to their children.

BillionToOne Closes $15M Series A Follow-on Round

The firm plans to use the cash to support commercial expansion of its NIPT to all US states and fund R&D for future diagnostic tests, including liquid biopsies.

BillionToOne to Launch Noninvasive Prenatal Screening Test; Plans Liquid Biopsy Products
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The California startup is about to launch its first product, a noninvasive prenatal screening test for recessive single-gene disorders called Unity.

Mar 28, 2019

Prenatal Testing Firm BillionToOne Closes $15M Series A Financing

Feb 22, 2019

Bio-Rad Expects Expansion of Clinical ddPCR System Menu With FDA Clearance
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Oct 22, 2018

MRC Holland Gets CE-IVD Mark for Spinal Muscular Atrophy Assay

Oct 15, 2018

Sanofi Genzyme, PerkinElmer Launch Free Dx Program for Patients With Lysosomal Storage Disorders

Apr 27, 2018

Invitae, Biogen Partner on Free Spinal Muscular Atrophy Genetic Testing Program

Feb 23, 2018

CDC, PerkinElmer Readying Molecular SMA Tests as Stakeholders Push for Nationwide Newborn Screening
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Oct 27, 2017

Australian Study Highlights Carrier Screening Impacts in Reproductive Context

Feb 2, 2017

North Carolina Looks to Expand Newborn Screening for Severe Genetic Conditions
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Nov 2, 2016

Good Start Genetics Selling Carrier Screening Tests Through Amazon

Jul 7, 2014

Natera, Mt. Sinai Partner on Genetic Carrier Screening Test

Jan 28, 2013

Counsyl, ARUP Team on Genetic Testing

Apr 6, 2012

Myriad RBM Teams with Spinal Muscular Atrophy Foundation on Protein Marker Panel
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Jun 10, 2011

NINDS to Fund Biomarkers for Spinal Muscular Atrophy

Breaking News
The Scan

Genetic Testing Approach Explores Origins of Blastocyst Aneuploidy

Investigators in AJHG distinguish between aneuploidy events related to meiotic missegregation in haploid cells and those involving post-zygotic mitotic errors and mosaicism.

Study Looks at Parent Uncertainties After Children's Severe Combined Immunodeficiency Diagnoses

A qualitative study in EJHG looks at personal, practical, scientific, and existential uncertainties in parents as their children go through SCID diagnoses, treatment, and post-treatment stages.

Antimicrobial Resistance Study Highlights Key Protein Domains

By screening diverse versions of an outer membrane porin protein in Vibrio cholerae, researchers in PLOS Genetics flagged protein domain regions influencing antimicrobial resistance.

Latent HIV Found in White Blood Cells of Individuals on Long-Term Treatments

Researchers in Nature Microbiology find HIV genetic material in monocyte white blood cells and in macrophages that differentiated from them in individuals on HIV-suppressive treatment.