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Rare Disease Day 2018 on February 28th

Show Your Rare for

Rare Disease Day 2018!

Rare Disease Day has become iconic as the global campaign for raising awareness of the impact that rare diseases have on the lives of patients and those who care for them.

patient-led campaign, Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008 and brings together millions of patients, families, carers, medical professionals, policy makers and members of the public in solidarity.

In 2018, organisations in over 90 countries and regions around the world are participating in Rare Disease Day by holding local eventsFor the first time ever, TogoGhana, and Trinidad and Tobago will participate in Rare Disease Day!

The theme for Rare Disease Day 2018 is research. Rare Disease Day 2018 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

Dia Mundial do doenca rara

Get involved in Rare Disease Day 2018!

Everyone can get involved in Rare Disease Day, those affected and unaffected by rare diseases alike:

>>Show Your Rare on social media

Take part in the interactive #ShowYourRare social media campaign during the month of February - paint your face and share your selfie on social media to show your support for the rare disease community! See the EURORDIS team getting involved.

Prefer not to paint your face? See alternative ways to get involved, including printing this social media boardand holding it up in your photos!

Sean Hepburn Ferrer, eldest son of the late Audrey Hepburn who passed away from rare cancer pseudomyxoma adenocarcinoma, is Rare Disease Day Ambassador for the fifth year. See him getting involvedin the #ShowYourRare campaign.

You can also add this Facebook filter or this Twitter filter to your profile picture.

And don’t forget to sign up to the Rare Disease Day Thunderclap campaign to automatically share a message of support on your Twitter or Facebook account on 28 February.

>>Rare Disease Day 2018 official video & poster

Watch and share the official video (available in over 30 languages!). This year’s video pays tribute to the role patients play in research. The video features patients and family members, researchers and doctors who show their rareRead their stories! Thank you to Publicis Health for their in-kind contribution to the campaign and Madame Peel for the production of the video. 

You can also download the official Rare Disease Day 2018 poster, logo and social media banner to use at your events and online.

>>Become a friend of Rare Disease Day

Everyone (organisations, companies, caregivers and researchers) can become a friend of Rare Disease Day to show support for the 2018 campaign!

>>Your Rare Disease Day events 

Since Rare Disease Day began, thousands of events have been held throughout the world, reaching hundreds of thousands of people.

Are you holding an event for Rare Disease Day 2018? Post your event on rarediseaseday.org so that people living in your country can find out about your Rare Disease Day activities.

>>Tell your story

You can also tell your rare disease story on rarediseaseday.org.

Twitter header

Source: https://www.eurordis.org/pt-pt/news/apoie-doencas-raras-mostre-o-no-dia-das-doencas-raras-de-2018

By: Eva Bearryman, Communications Manager, EURORDIS

Pictures: rarediseaseday.org



2017 Was the Year of Gene-Therapy Breakthroughs

Gene-fixing treatments have now cured a number of patients with cancer and rare diseases.

It was a notable year for gene therapy. The first such treatments in the U.S. came to market this year after winning approval from the Food and Drug Administration. Meanwhile, researchers announced more miraculous cures of patients with rare and life-threatening diseases who were treated with experimental therapies.

Decades in the making, gene therapy—the idea of modifying a person’s DNA to treat disease—represents a major shift in medicine. Instead of just treating symptoms like the vast majority of drugs on the market, gene therapy aims to correct the underlying genetic cause of a disease. Doctors and scientists hope these treatments will be a one-shot cure.

Last year, we wrote that 2016 was gene therapy’s most promising year. But 2017 proved to be even bigger.

Read the 2017 gene therapy breakthroughs full article: 


Sources: MIT Technology Review 

By Emily Mullin

Scientists use CRISPR to turn genes on without editing their DNA

The revolutionary gene editing tool CRISPR-Cas9 is best known for helping scientists edit a strand of DNA more precisely and efficiently than ever before.

Now, researchers have demonstrated another use for the CRISPR complex: changing which genes are expressed without altering the genome itself.

For the first time, researchers at the Salk Institute in San Diego were able to use CRISPR to activate beneficial genes in live mice suffering from muscular dystrophy, Type 1 diabetes and acute kidney injury.

In more than 50% of test cases, the animal’s health improved after the CRISPR intervention, according to a study published Thursday in the journal Cell.

Previous work already had demonstrated that CRISPR could be used to alter gene expression in cells in a petri dish, but the new study represents the first time the technique has worked in a live animal, the scientists said.

The feat is significant.

“We moved this technique one big step toward human therapy,” said Hsin-Kai Liao, a postdoctoral researcher at Salk and co-first author on the paper.

Read the full article:


By Deborah Netburn 

Source: Los Angeles Times 

How Cancer Recharges Its Batteries

New research uncovers how the blood cancer ‘steals’ parts of surrounding healthy bone marrow cells to thrive, in work that could help form new approaches to cancer treatment in the future.

Researchers at the University of East Anglia, funded by the Rosetrees Trust and The Big C Charity, found that healthy bone marrow stromal cells were made to transfer their power-generating mitochondria to neighbouring cancer cells, effectively ‘recharging’ the acute myeloid leukaemia (AML) and supporting the leukaemia to grow.

AML has been found to act in a parasitic way by first generating oxygen-deprived conditions in the bone marrow which then stimulates the transfer of healthy mitochondria from the non-cancerous cells to the leukaemia cells.

The study, published on the cover of the journal Blood today also identified how and why the mitochondria are transferred and discusses the potential impact this could have on future treatment and study of cancer.

Read the full article:


by University of East Anglia

SOURCE: Drug, Discovery & Development Magazine 


First in Human: the crucial importance of clinical trials

Discovery documentary First in Human gives an up-close look at how advances in medicine are made at the NIH Clinical Center

Three-part series airing in August portrays the hopes and setbacks of patients, doctors, and nurses seeking cures.

On August 10, Discovery premiered First in Human, a three-part documentary on the National Institutes of Health Clinical Center, providing an unprecedented, first-hand look at the successes and setbacks that are a part of developing brand-new medicines that may ultimately benefit millions worldwide.

Watch the documentary and you will better understand how a clinical trial is developed and, if the product is sucessfully developed, may help saves several lives.And you can be part of this life-saving process. Read more and watch the documentary.

Read the full article:


Source: NIH web site


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