Rare disease research at Cambridge receives major boost with launch of two new centres

Cambridge researchers will play key roles in two new centres dedicated to developing improved tests, treatments and potentially cures for thousands of people

Cambridge University News • cambridge
April 23, 2024 ~5 min

CRISPR and other new technologies open doors for drug development, but which diseases get prioritized? It comes down to money and science

Drug development takes a great deal of time, money and effort. While future profits play a big factor in which diseases gets prioritized, advocacy and research incentives can also tilt the scale.

C. Michael White, Distinguished Professor of Pharmacy Practice, University of Connecticut • conversation
Dec. 14, 2023 ~10 min


Flesh-eating bacteria infections are on the rise in the US − a microbiologist explains how to protect yourself

Warmer ocean waters are fueling the spread of the bacteria Vibrio vulnificus. Infections can lead to a rare but fatal condition called necrotizing fasciitis.

Bill Sullivan, Professor of Pharmacology & Toxicology, Indiana University • conversation
Sept. 25, 2023 ~6 min

Celine Dion's diagnosis of stiff-person syndrome brought a rare neurological diagnosis into the public eye – two neurologists explain the science behind it

Although there is no cure for this disorder, there are treatments that can help alleviate symptoms.

Torge Rempe, Assistant Professor of Neurology, University of Florida • conversation
Dec. 21, 2022 ~7 min

When it comes to the rarest of diseases, the diagnosis isn't the answer – it's just the starting point

Deciphering the biological pathways behind rare genetic diseases often involves assembling a team of specialists to work closely with the family members of those affected.

Melissa Wasserstein, Professor of Pediatric Genetic Medicine, Albert Einstein College of Medicine • conversation
April 20, 2022 ~10 min

First gene therapy for Tay-Sachs disease successfully given to two children

Tay-Sachs is a rare and fatal neurodegerative disorder that most commonly affects children. Researchers have developed the first Tay-Sachs treatment to reach clinical trials.

Miguel Sena-Esteves, Associate Professor of Neurology, UMass Chan Medical School • conversation
Feb. 14, 2022 ~6 min

No deal Brexit could have detrimental impact for four million people in UK living with a rare disease

Experts have warned that a ‘no deal’ Brexit will result in the exclusion of the UK from the 24 European Reference Networks (ERNs) that were established to

Cambridge University News • cambridge
Dec. 11, 2020 ~5 min

Genomes front and centre of rare disease diagnosis

Cambridge-led study discovers new genetic causes of rare diseases, potentially leading to improved diagnosis and better patient care.

Cambridge University News • cambridge
June 24, 2020 ~7 min


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