Rare Disease News and Research

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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

FDA approves TREANDA (bendamustine hydrochloride) for chronic lymphocytic leukemia

FDA approves TREANDA (bendamustine hydrochloride) for chronic lymphocytic leukemia

Proteolix's Carfilzomib granted orphan drug designation

Proteolix's Carfilzomib granted orphan drug designation

Older corneas suitable for transplantation

Older corneas suitable for transplantation

Key factor in brain development revealed, offers insight into lissencephaly

Key factor in brain development revealed, offers insight into lissencephaly

First comprehensive database of microorganisms known to live in the mouth

First comprehensive database of microorganisms known to live in the mouth

Europeans can now check out on-line the credentials of laboratories offering genetic tests

Europeans can now check out on-line the credentials of laboratories offering genetic tests

Good news for people with glycogen storage disease type Ia

Good news for people with glycogen storage disease type Ia

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