Rare Disease News and Research

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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

New Apple ResearchKit app from Penn Medicine focuses on sarcoidosis patients

New Apple ResearchKit app from Penn Medicine focuses on sarcoidosis patients

Common drug for high blood pressure repurposed to treat soft tissue sarcoma in Europe

Common drug for high blood pressure repurposed to treat soft tissue sarcoma in Europe

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

Scientists discover OGDHL and NRD1 genes linked to progressive loss of neurological function

Scientists discover OGDHL and NRD1 genes linked to progressive loss of neurological function

IPF diagnosis: how do patients feel about the discussion with their physician?

IPF diagnosis: how do patients feel about the discussion with their physician?

Experts discuss ways to integrate whole genome analysis into clinical practice at Congenica webinar

Experts discuss ways to integrate whole genome analysis into clinical practice at Congenica webinar

Scientists discover molecular link between rare childhood genetic disease and major cancer gene

Scientists discover molecular link between rare childhood genetic disease and major cancer gene