Rare Disease News and Research

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Broad differences in alcohol, tobacco and illegal drug use across countries

Broad differences in alcohol, tobacco and illegal drug use across countries

Distinct clusters of genetic markers linked to treatment responses for smoking cessation

Distinct clusters of genetic markers linked to treatment responses for smoking cessation

NIDA highlights best drug abuse treatment approaches at blending conference

NIDA highlights best drug abuse treatment approaches at blending conference

Spontaneous mutations widespread in non-familial schizophrenia

Spontaneous mutations widespread in non-familial schizophrenia

Rett syndrome gene found to be full of surprises

Rett syndrome gene found to be full of surprises

Scientists identify a brain mechanism underlying persistent cocaine craving

Scientists identify a brain mechanism underlying persistent cocaine craving

NCI scientists visualize gene regulation in living cells

NCI scientists visualize gene regulation in living cells

Reducing blockage fails to improve access to the bloodstream for kidney dialysis

Reducing blockage fails to improve access to the bloodstream for kidney dialysis

NIH announces new program to study patients with mystery diseases

NIH announces new program to study patients with mystery diseases

NIH launches undiagnosed diseases program

NIH launches undiagnosed diseases program

Small molecule nutlin-3a activates an important cancer suppressor gene

Small molecule nutlin-3a activates an important cancer suppressor gene

Researchers discover molecular basis of limb-girdle muscular dystrophy

Researchers discover molecular basis of limb-girdle muscular dystrophy

First sequence-based map of large-scale structural variation across the human genome

First sequence-based map of large-scale structural variation across the human genome

Human protein may offer novel target for blocking HIV infection

Human protein may offer novel target for blocking HIV infection

Functional magnetic resonance imaging reveals brain circuitry associated with social status

Functional magnetic resonance imaging reveals brain circuitry associated with social status

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)

Global Alliance for Pharmacogenomics

Global Alliance for Pharmacogenomics

Gene linked to inherited blood biomarker associated with asthma risk

Gene linked to inherited blood biomarker associated with asthma risk

Potential new therapy for myeloproliferative disorders

Potential new therapy for myeloproliferative disorders

Rare mutations in salt handling genes protect against hypertension

Rare mutations in salt handling genes protect against hypertension

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