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Genome sequencing approach opens door to therapy options for rare, neglected cancers

Genome sequencing approach opens door to therapy options for rare, neglected cancers

Researchers use animal model to study brain abnormality in human TD patients

Researchers use animal model to study brain abnormality in human TD patients

VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies

VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies

New method to identify, sort stem cells may help restore vision to people with damaged corneas

New method to identify, sort stem cells may help restore vision to people with damaged corneas

New London Major Early-Phase Contract Research Center Opened on Rare Disease Day

New London Major Early-Phase Contract Research Center Opened on Rare Disease Day

Two thirds of IPF patients report being involved during the decision-making process for the most appropriate treatment

Two thirds of IPF patients report being involved during the decision-making process for the most appropriate treatment

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

Scientists propose potential new treatment for Gaucher disease

Scientists propose potential new treatment for Gaucher disease

UMass Amherst study highlights unmet drug needs of patients with rare diseases

UMass Amherst study highlights unmet drug needs of patients with rare diseases

Combination of drugs amplifies kill rates of brain cancer tumours in mice

Combination of drugs amplifies kill rates of brain cancer tumours in mice

Study provides new insight into causes of rare metabolic disorder

Study provides new insight into causes of rare metabolic disorder

Penn Medicine's ODC collaborates with FAST to develop gene therapy for Angelman syndrome

Penn Medicine's ODC collaborates with FAST to develop gene therapy for Angelman syndrome

Research suggests new type of congenital muscular dystrophy

Research suggests new type of congenital muscular dystrophy

Researchers create first animal model of rare disease linked to problem of adrenal glands

Researchers create first animal model of rare disease linked to problem of adrenal glands

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

Repurposing existing drugs to treat rare diseases could improve outcomes, save money

Repurposing existing drugs to treat rare diseases could improve outcomes, save money

Sapientia genome analysis software by Congenica could cut costs and save lives

Sapientia genome analysis software by Congenica could cut costs and save lives

Researchers explore ins and outs of genome sequencing in newborns

Researchers explore ins and outs of genome sequencing in newborns

First symptoms of meningitis

First symptoms of meningitis