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rare diseases

Illustration of a laboratory flask to the left of a microscope against an orange/grey background with a zoomed-in cut-out of the microscope view, which is colourful molecules.

A better look at a human RNA polymerase

New EMBL research shows where & to what degree a component of cellular machinery known as RNA Pol III is mutated and becomes…

By Ivy Kupec

Science

EMBL boosts national and international sharing of genomic data

A national consortium including EMBL and the DKFZ is set to launch the German Human Genome–Phenome Archive, creating an invaluable bridge between…

By Jodie Haigh

Lab Matters

EMBL scientists investigate rare lung disease

Researchers in EMBL’s Zaugg group have studied the causes of pulmonary arterial hypertension (PAH), a rare disease that causes high blood pressure…

By Fabian Oswald

Science

oscillations of gene activity

Tissue dynamics provide clues to human disease

EMBL scientists examine the molecular causes of a rare hereditary disease of the spine and…

By Guest author(s)

Science

Mouse genetic data identifies rare disease genes

Pinpointing rare disease mutations

New resource that categorises genes essential for supporting life could be used to identify rare disease…

By Vicky Hatch

Science

Muscle games

Every single moment of our life we use our muscles – most of the time without even thinking about it. Some muscles, like our heart, we cannot even…

By Doreen Feike

Picture of the week

CINECA logo on blue data background

Facilitating transcontinental human data exchange

Federated data sharing will now be possible on an unprecedented…

By Georgia Hingston

Science

Mouse skin samples of the rare genetic skin disease amyloidosis, before light treatment (left) and after treatment (right). The arrows indicate aggregates of debris, which cause the skin to become rough and uncomfortable. Upon treatment these aggregates are reduced, allowing the skin to heal. IMAGES: Paul Heppenstall and Linda Nocchi / EMBL

Using light to stop itch

EMBL researchers have found a way to stop itch with light in…

By Iris Kruijen

Science

MRI image of a medulloblastoma

New risk factors for rare childhood cancer

Researchers identify genes that can cause brain tumours in children and other cancers later in…

By Iris Kruijen

Science

ELIXIR accelerates

ELIXIR receives major Horizon 2020 funding to ‘EXCELERATE' activities over the next four…

By Guest author(s)

Lab Matters

Potential new drug target for cystic fibrosis

Scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg and Regensburg University, both in Germany, and the University of…

By Guest author(s)

Science

A gene that protects from kidney disease

Researchers from the European Molecular Biology Laboratory (EMBL) and the University of Michigan have discovered a gene that protects us against a…

By Guest author(s)

Science

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