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BioWorld - Thursday, June 8, 2023
Home » Topics » Disease categories and therapies » Genetic/Congenital

Genetic/Congenital
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Gene editing illustration

Base editing rescues spinal muscular atrophy in vivo

April 10, 2023
By Mar de Miguel
No Comments
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy. Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique.
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Genetic/Congenital

Base editing rescues spinal muscular atrophy in vivo

April 6, 2023
By Mar de Miguel
No Comments
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy (SMA). Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique. “This base editing approach to treating SMA should be applicable to all SMA patients, regardless of the specific mutation that caused their SMN1 loss,” the lead author David Liu, a professor and director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute of Harvard and MIT, told BioWorld.
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Genetic/Congenital

Novel AAV-based gene therapy for liver glycogen storage disease type IX presented

March 31, 2023
No Comments
Liver glycogen storage disease type IX (GSD IX) accounts for 25% for all GSD cases, with a prevalence of 1 out of 100,000 patients. GSD IX is caused by deficiency in phosphorylase kinase (PhK), which is comprised of four subunits (α2, β, δ and γ2), with γ2 being the catalytic domain.
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Endocrine/Metabolic

SLC6A19 inhibition as a strategy for PKU treatment

March 22, 2023
No Comments
Phenylketonuria (PKU) is an autosomal recessive disorder where the primary catabolic pathway for phenylalanine (Phe) is disrupted due to mutations in the gene encoding PAH. Elevated Phe levels lie behind several neuropathologic anomalies that can lead to severe and irreversible mental retardation, if untreated.
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Biomarkers

Novel BCKDHB variant and 6q14.1 deletion tied to double diagnosis of maple syrup urine disease and CHUJANS

March 22, 2023
No Comments
Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
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DNA and silhouette
Genetic/Congenital

Murine models of geleophysic dysplasia may aid in understanding the mechanisms behind it

March 22, 2023
No Comments
Geleophysic dysplasia (GD) is an autosomal recessive disease characterized by facial features, short stature, limited joint mobility and cardiovascular and respiratory abnormalities, which can lead to a significant mortality rate. The disease is caused by biallelic genetic variants in the ADAMTSL2 gene. Little is known about the pathogenesis of the disease, but dysregulation of the TGF-β pathway has been shown to be involved.
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Newborn baby feet and DNA base pair letters A, T, C and G.
Biomarkers

New pathogenic variant in NEB confirms diagnosis of nemaline myopathy 2

March 21, 2023
No Comments
Researchers from the University of Utah applied RNASeq analysis for an undiagnosed case of a critically ill newborn with a complex phenotype, with the aim of providing better diagnosis and improving treatment outcomes.
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Awareness ribbon with zebra pattern
Genetic/Congenital

Rare diseases yield genomic secrets through new computational approach

March 20, 2023
By Anette Breindl
No Comments
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
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DNA illustration
Biomarkers

Investigators identify novel variants in the KIAA1109 gene related to Alkuraya-Kucinskas syndrome

March 20, 2023
No Comments
Investigators from the Thomas Jefferson University have presented a case report of a 27-year-old pregnant patient in whom cystic hygroma, extensive anasarca, bilateral pleural effusions, ascites, abnormally curved sacrum and hydrocephalus with parenchymal volume loss, among others were detected by prenatal imaging during pregnancy (onset was at about 21 weeks of gestation).
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Biomarkers

Novel compound heterozygous variant in EFL1 found in Shwachman-Diamond syndrome 2

March 20, 2023
No Comments
Researchers from the University of Utah and collaborators presented data on a case report of...
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