Global PF Awareness Month

September is Global PF Awareness Month! The Pulmonary Fibrosis Foundation (PFF) has designated September as Global Pulmonary Fibrosis Awareness Month. Part of their awareness efforts include a #BlueUp4PF campaign.

CheckOrphan staffers were happy to go blue to help raise awareness of this rare disease.

Learn more about idiopathic pulmonary fibrosis.

Living in Spite of the Damocles’s Sword

by Stefano Torti

I was able to learn a lot about Huntington’s disease… but that woman’s dignified sadness still haunted me, so to speak. I kept thinking about her and her sons, especially the pre-symptomatic one… how could he find the motivation to get up every day, knowing what was in store for him? How could he work, live and love in spite of such a Damocles’s sword?

The question grew important to me as the days went by: how can someone find new possibilities and motivation as their share of healthy lifetime was to be cut in such a cruel way?

Eventually, I decided to devote my M.A. thesis to answering that question. How it happened to be and how I made it will be the topic of this post. Continue reading

Huntington’s Disease Awareness Month

May is Huntington’s Disease Awareness Month.

As Stefano relates in his recent blog post, Huntington’s is a devastating disease that involves virtually all aspects of the affected person’s functioning, leading to an irreversible decline of motor and cognitive abilities and to behavioral disorders, up to paralysis and dementia.

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Join CheckOrphan, the International Huntington Association and your local Huntington’s Disease organization in raising awareness of this crippling disease.

Rare Diseases and Genetic Screening: Scientific Tests with Human Impact

by Assunta Ginanneschi

The aim of this blog is to arise awareness around  specific rare diseases and create a network of experts, competences and resources around them. Our role is to facilitate the communication between patients, associations and physicians.
During our networking activitiesfoto_settembre.2015_piccola we came across the
dissertation of a young Italian psychologistwho focussed the first part of his thesis work on genetic tests and their impact on patient private and professional life. We asked him to collaborate with us and he accepted welcome on board, Stefano! Continue reading

Rare Diseases and Clinical Trials: Discovering Suitable Drugs for Adults and Children

by Assunta Ginanneschi

Recently we received an official blog request about a very delicate theme: Better medicine for children. Dr. Rose came to us through the pediatric & rare disease congress that took place in Basel in February 2016.

My colleagues Rieka and Nicole attended on behalf of CheckOrphan. After the conference, the three of them  exchanged ideas and thoughts about rare diseases as well as the actual status for clinical trials with children. A couple of meetings later, we started  collaborating with him. We are really very glad to arise awareness about this topic, thank Dr. Rose for approaching us about it. Continue reading

Join CheckOrphan in raising awareness of rare diseases around the world!

Join CheckOrphan in raising awareness of rare diseases around the world! 

Today, the last day in February, is Rare Disease Day 2016! This year the slogan is ‘Join us in making the voice of rare diseases heard’.

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Smiling Girl with Hands Covered in Paint — Image by © Royalty-Free/Corbis

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People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation. Join the rare disease community and make the impact of rare diseases known.

 

In the Spotlight: Mr. Jimmy Lin – Founder of the Rare Genomics Institute

Mr. Jimmy Cheng-Ho Lin, MD, PhD, MHS is Founder and President at the Rare Genomics Institute (RGI). The Institute leverages cutting-edge biotechnology to tackle rare diseases. The RGI provides an expert network and online crowdfunding mechanism to link families with scientists, so that together they can pursue customised research projects for rare diseases. You can find out more about RGI here.

Recently, Mr. Lin, in an interview for the Orphan Drugs Summit (LINK), explained his motivation for founding the Rare Genomics Institute: “In my pediatric rotation at Hopkins during medical school, I met a family who has visited some of the top hospitals in the world to seek answers for their son. Alas, there was no clinical diagnostic that was available then – but from my PhD work, I had just helped sequence the exomes of individuals with cancer. This started as a journey to start an organization to help connect patients with research and clinical resources to end their diagnostic odysseys and start the search for therapies and cures.”

With over 7,000 rare illnesses, a large number is not actively being researched. Consequently, for these orphan diseases, there are no or only very limited, infrastructure to allow for investigation or treatment.

If you would like to hear more from Mr. Lin, why not check out some of his TEDx Talks: https://youtu.be/evC3HGI-Lnc and https://youtu.be/4tarl95XP1M

For more information on the Orphan Drugs Summit, on the 17 – 18 September 2015 in Copenhagen, Denmark, see: http://www.orphandrugssummit.com

You Are the Expert

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Congressman Tim Murphy of Pennsylvania has a message for the cystic fibrosis community: members of Congress want to know the issues and problems that people with CF face. “No one knows these issues better than you.”

He’s absolutely right. That’s why it’s so important that you join Make Every Breath Count.

 

Sign up for Make Every Breath Count

Make Every Breath Count is the CF Foundation’s national advocacy campaign, during which advocates like you inspire action in our fight against CF by meeting with their members of Congress in their hometowns.

You can help ensure that we are able to continue vital CF research, that new therapies are approved quickly and safely, and that people with CF have adequate coverage to go to their care center and access their treatments.

Congressman Murphy says it best: elected officials are “depending upon you to be the ones to tell us” about these important issues. You are the expert.

It’s easy to get involved and we will help you every step of the way!

Thank you for all that you do. Together, we will continue to make a difference in the lives of all people with CF.

Sincerely,

Cystic Fibrosis Foundation
publicpolicy@cff.org

Rare Diseases Deserve Access to Accelerated Approval – Call Congress TODAY!

The Food & Drug Administration (FDA) recently issued a draft guidance on Expedited Approval Programs which they say fulfills the FDASIA mandate on Accelerated Approval for Rare Diseases, however the guidance does not address specific issues related to rare disease drug development as required by FDASIA.  We need to do better!

Representative Bilirakis (R-FL) is circulating a letter in Congress calling on the FDA to fully implement FDASIA and give rare disease access to Accelerated Approval.  URGENT ACTION is needed from the patient community to ask Members of Congress to sign onto the letter.

Please CLICK HERE to call your Member of Congress It’s easy & only takes 5 minutes.  Just enter your address & your Congress Member’s phone number will be displayed with a sample script you can use to ask your Member to sign onto the letter.

Access to Accelerated Approval brings down the time and cost to development treatments leading to a surge in investment and development activity for even the most rare disorders, giving more patients with rare diseases earlier access to safe and effective treatments. 

To see the Congressional Letter to FDA & to learn more about the issue, click here.

Thank you for taking action!

Emil Kakkis, MD PhD
President & Founder
EveryLife Foundation for Rare Disease