RareBase - Blog



The Shocking News When a Patient Dies in your Community - 18 May 2017 - Author: Carri Levy-TV Producer

The Shocking News When a Patient Dies in your Community
This week it became apparent that my daughter's disease community was in big trouble.


I could see it on a personal level, when my daughter, who is a leader in her c...
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11 Simple Rules of Business Model Transformation by Charles Darwin, Esq. - 03 April 2017 - Author: Professor Brian D Smith

11 Simple Rules of Business Model Transformation by Charles Darwin, Esq.
Executives in the life science industry are drowning. Deluged with white papers and PowerPoints about business model transformation, they complain that most of them are not worth the time they take to...
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An interview with Dr Sharmila Bakshi on Personalize My Medicine - 04 March 2017 - Author: Rhiannon J Stephens from Comradis

An interview with Dr Sharmila Bakshi on Personalize My Medicine
Rhiannon Stephens from Comradis met with Dr Sharmila Bakshi to discuss her start-up Personalize My Medicine (PMM), rare disease and the future of healthcare.
RS: When was PMM launched? ...
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Effective planning and conducting clinical trials in rare diseases - 02 February 2017 - Author: Sven Engel-CEO at SynapCon Ltd.

Effective planning and conducting clinical trials in rare diseases
Six to eight percent of the European population suffer from a rare disease which is roughly equivalent to 27-36 million citizens. In addition to the approximately 7000 known rare diseases about fi...
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What life is like living with Velocardiofacial syndrome aka 22q11.2 - 04 January 2017 - Author: Amanda Ripsam-Blogger and Advocate

What life is like living with Velocardiofacial syndrome aka 22q11.2
I was born on February 10 1983. My husband is 11 years older then I am. We met online though a mutual friend 11 years ago and last Feb 23rd we celebrated 11 years being together. Dec 29 we celebr...
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Have You Met Carri Levy? - 14 December 2016 - Author: Carri Levy-Creator of Behind the Mystery: Rare & Genetic

Have You Met Carri Levy?
Like most people in the rare disease community, I found myself searching for an answer to some puzzling symptoms that my daughter was having. She had been sick most of her life. Years of testing, doct...
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What happens when 'All systems fail'? - 09 November 2016 - Author: Rebecca Stewart - Co-Founder at Rare Revolution magazine

What happens when 'All systems fail'?
Here in the Rare Disease community we know all too well what it is like not to fit in a nice neat box. At a time when the National Health Service, here in the UK, is stretched to breaking point, even ...
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The Value of Patient Group Engagement in Drug Development - 11 October 2016 - Author: Flóra Raffai-Executive Director at Findacure

The Value of Patient Group Engagement in Drug Development
In recent years, there has been a growing movement among researchers and the pharmaceutical industry to involve patient groups in their work developing novel treatments, especially in the field of rar...
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Why Is Your Rare Disease So Hard to Diagnose? - 07 September 2016 - Author: Carri Levy-Creator of Behind the Mystery: Rare & Genetic

 Why Is Your Rare Disease So Hard to Diagnose?
Meet the Lucky and the Unlucky
If you have a diagnoses for a rare disease, you are unluckily lucky. Obviously lucky to have a name of the disease that you have. Hopefully lucky...
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Non-Invasive Prenatal Genetic Testing - 09 August 2016 - Author: David Bennett-Orphan diseases/UK specialist

Non-Invasive Prenatal Genetic Testing
Non-Invasive Prenatal genetic Testing (NIPT) is a relatively new tool for identifying fetal abnormalities resulting from chromosomal/genetic errors. This article describes the current and potential ap...
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Meet and Greet with Diana - 07 July 2016 - Author: Amanda Ripsam-Blogger and Advocate

Meet and Greet with Diana
Meet Diana, a mom who has two children with two different genetic disorders: One of her kids has 22q11.2 deletion, like my daughter Bella and I have. The other child has 15q duplication. That’s ...
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Finding strength you did not know you had - 02 June 2016 - Author: Vanessa Vaughan-Director at U.R. Our Hope

Finding strength you did not know you had
“Your blood work came back abnormal. These levels indicate your child may have Down Syndrome, so we are going to send you for a higher level ultrasound and we may need further testing like an am...
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5 Rare Diseases You Didnt Know About - 03 May 2016 - Author: Carri Levy-Creator of Behind the Mystery: Rare & Genetic

5 Rare Diseases You Didnt Know About
It bothers me that there are over 7000 rare diseases. I wish I could educate you on all of them, but I just don’t think that you would have stopped to read this blog if it had said "Se...
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Neuroblastoma Therapy - A New Hope - 07 April 2016 - Author: Soledad Betanzos-Lara, Ph.D.

Neuroblastoma Therapy - A New Hope
Neuroblastoma (NB) is the most common extracranial solid tumor in childhood, accounting for approximately 8% of childhood cancers. Nearly 40% of NB tumors are classified as high-risk (HR) using curren...
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Personalized Medicine and Orphan Diseases - 03 March 2016 - Author: Dr Sharmila Bakshi-'Personalize My Medicine'

Personalized Medicine and Orphan Diseases
There are over 7000 known rare diseases, with new rare conditions being discovered every week. For far too long, these diseases have simply not been a priority for drug developers, mainly due to the v...
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Misdiagnoses can be fatal - 23 February 2016 - Author: Carri Levy-Creator of Behind the Mystery: Rare & Genetic

Misdiagnoses can be fatal
We did a story on Behind the Mystery:
Rare & Genetic series about an incredibly healthy woman in our armed forces, who collapsed one day while overseas.
Below is th...
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A TV producer for orphan diseases - 22 January 2016 - Author: Carri Levy-Creator of Behind the Mystery: Rare & Genetic

A TV producer for orphan diseases
What makes a great TV producer for orphan diseases?
Passion...
Today I am doing some research on cannabis oil  and cancer treatment. Why? Because I have a ...
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New-born screening for rare disorders - 07 January 2016 - Author: David Bennett-Orphan diseases/UK specialist

New-born screening for rare disorders
What are the implications of the genomics revolution?
Two aspects of the genomics ‘revolution’ we are now living in are intertwined: the ability to diagnose rare ge...
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