Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
Researchers identify new genetic disorder in a human patient

Researchers identify new genetic disorder in a human patient

First U.S. patient treated with innovative gene therapy at Bascom Palmer Eye Institute

First U.S. patient treated with innovative gene therapy at Bascom Palmer Eye Institute

Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1

Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1

KKH develops new test to enable faster diagnosis of critically ill children with rare diseases

KKH develops new test to enable faster diagnosis of critically ill children with rare diseases

BeiGene collaborates with SpringWorks to evaluate new combinational therapy for solid tumors

BeiGene collaborates with SpringWorks to evaluate new combinational therapy for solid tumors

Breakthrough study sheds light on mechanism underlying Warsaw Breakage Syndrome

Breakthrough study sheds light on mechanism underlying Warsaw Breakage Syndrome

Researchers find how NF2 gene mutations lead to out-of-control cellular proliferation

Researchers find how NF2 gene mutations lead to out-of-control cellular proliferation

Tufts researchers win grant to study integration of genomic sequencing into neonatal care

Tufts researchers win grant to study integration of genomic sequencing into neonatal care

Study reveals role of RUNX proteins in DNA repair

Study reveals role of RUNX proteins in DNA repair

Otsuka’s JINARC approved for treatment of patients with CKD stage 4 ADPKD

Otsuka’s JINARC approved for treatment of patients with CKD stage 4 ADPKD

Pioneering research takes major step forward in the fight against cystic fibrosis

Pioneering research takes major step forward in the fight against cystic fibrosis

New study aims to develop nucleoside therapy as treatment for mitochondrial depletion syndromes

New study aims to develop nucleoside therapy as treatment for mitochondrial depletion syndromes

New drug offers hope to prevent attacks of hereditary angioedema

New drug offers hope to prevent attacks of hereditary angioedema

Researchers investigate recessive genetic disorder that leads to childhood blindness

Researchers investigate recessive genetic disorder that leads to childhood blindness

UC San Diego researchers awarded two grants for investigating stem cell-based therapies

UC San Diego researchers awarded two grants for investigating stem cell-based therapies

Novel delivery system for bacteriophages could offer new way to battle lung infections

Novel delivery system for bacteriophages could offer new way to battle lung infections

Senate Committee recommends change in laws to prevent mitochondrial disease in Australian babies

Senate Committee recommends change in laws to prevent mitochondrial disease in Australian babies

Scientists focus on critical regulatory protein to find clues on cancer, neurodegenerative diseases

Scientists focus on critical regulatory protein to find clues on cancer, neurodegenerative diseases

Researchers work on new treatment that could improve lives of cystic fibrosis patients

Researchers work on new treatment that could improve lives of cystic fibrosis patients

Practicing with fake organs helps surgeon to perform complex cancer surgery

Practicing with fake organs helps surgeon to perform complex cancer surgery