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.
Recent findings on rare genetic disorder may help develop new treatment options

Recent findings on rare genetic disorder may help develop new treatment options

Researchers successfully restore sense of vision in blind people using BVT's bionic eye

Researchers successfully restore sense of vision in blind people using BVT's bionic eye

UH pharmaceutical scientist developing new drug to treat children with rare genetic disorder

UH pharmaceutical scientist developing new drug to treat children with rare genetic disorder

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

New, more efficient method for generating brain stem cells in the lab

New, more efficient method for generating brain stem cells in the lab

Shared decision making needed to diagnose, treat, and manage patients with CAH

Shared decision making needed to diagnose, treat, and manage patients with CAH

Exploring factors that need considered before offering genetic risk information to individuals

Exploring factors that need considered before offering genetic risk information to individuals

Antibiotic resistance in cystic fibrosis linked to decreased microbial diversity and pulmonary function

Antibiotic resistance in cystic fibrosis linked to decreased microbial diversity and pulmonary function

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