Great Ormond Street Hospital Children’s Charity and Sparks have a shared passion and commitment to support paediatric research nationally. Through our partnership that was established in 2017 we are able to make £2 million available annually to support project grant applications from researchers across the UK.
This year we are also proud to partner with Action for A-T, Krabbe UK, Dravet Syndrome UK, Myotubular Trust and DBAUK. Further information on these partnerships can be found below.
Remit of the funding call
Great Ormond Street Hospital Children’s Charity and Sparks are inviting project grant applications for child health research from researchers across the UK. The emphasis of this call is on complex childhood illness, including rare diseases.
The call will support translational research across the spectrum of medical conditions affecting the fetus, neonates and children directly, as well as pregnancy disorders that affect the child.
All projects must aim to improve understanding and/or outcomes of the child and have the potential to lead to the development of new diagnostic tools and novel interventions. Proposals will be asked to demonstrate a clear route to clinical application and strong partnership between clinical and laboratory based research.
This is a national funding call and is open to researchers across the UK. For this funding call, you do not need to have a co-applicant or collaborator from Great Ormond Street Hospital or the UCL Great Ormond Street Institute of Child Health.
We particularly encourage applications from early career researchers and those who are still consolidating their independent research careers.
Applications will be considered from researchers across the UK. Up to £2 million is available to spend under this call and it is anticipated that we will fund a range of proposals from different investigators and institutions. Therefore, applicants are asked to carefully consider their request for funding and whether it represents good value for money. The charity would not expect applications to exceed £250,000. Funding will be provided for the direct costs of research (such as research staff and consumables) but will not cover consultant Programmed Activities, team-leader salary time or PhD studentships. Typically, projects will be up to 3 years duration.
Applications will be received and managed by Great Ormond Street Hospital Children’s Charity and considered by its Research Assessment Panel. Final funding decisions will be announced in February 2019.
Full details about the application process, including members of the panel, are available on Great Ormond Street Hospital Children’s Charity’s website.
We are also delighted to be in a position to offer possible joint awards in partnership with our research partners in the specific areas outlined below.
With our partners we are specifically interested in receiving applications that:
Please note that all applications to this call will be considered in open competition with one another, there is not a separate process for applications addressing specific research partner areas.
For more frequently asked questions about this funding call please click here.
Alternatively, if you would like to know more about the funding call, our research partners or have any questions, please do not hesitate to contact the Grants team at Great Ormond Street Hospital Children’s Charity on firstname.lastname@example.org.
The deadline for submission of outline applications is 5pm, Thursday 26 July 2018
“Because 49,XXXXY is such a rare disorder, having a tool such as Face2Gene trained in the recognition of the facial phenotype of this syndrome increases awareness and accessibility of an earlier diagnosis,” said Dr. Carole Samango-Sprouse, Executive Director and Chief Science Officer at The Focus Foundation. “With earlier detection of boys with 49,XXXXY, the necessary biological treatment is likely to be available and allows these boys to reach their optimal outcome.”
With earlier detection of boys with 49,XXXXY, the necessary biological treatment is likely to be available and allows these boys to reach their optimal outcome
“With this breakthrough, patients all over the world affected with this disorder are now able to seek the appropriate treatment, and geneticists will have an improved understanding of how this disorder manifests,” said Dekel Gelbman, CEO of FDNA. “We’re looking forward to continued collaboration with The Focus Foundation to better identify the facial phenotype of this disorder and others.”
With the addition of this successful training, FDNA continues to solidify its position at the forefront of artificial intelligence, the leading force in digital health. FDNA’s growing database of over 10,000 diseases, combined with a global network of clinicians, labs, and researchers, serves to advance precision medicine for hundreds of millions of patients.
Learn more about The Focus Foundation and how to donate to their cause.
FDNA is the developer of Face2Gene, a suite of next-generation phenotyping applications that facilitates comprehensive and precise genetic evaluations. Face2Gene uses facial analysis, deep learning, and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs, and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of patients with genetically caused diseases. For more information, visit www.FDNA.com. Face2Gene is a registered trademark of FDNA INC.
Based out of Davidsonville, MD and founded in 2005 by Dr. Carole Samango-Sprouse and Jackie Bucksbaum, The Focus Foundation has the largest group of 49,XXXXY patients, as well as over 1000 patients followed with 47,XXY or Klinefelter syndrome (KS). The promise of The Focus Foundation is to promote innovative and novel research throughout the world on X & Y chromosomal variations, dyslexia, and developmental dyspraxia. One in every 500 children are born each day with an additive X or Y chromosome(s), but 75% of all cases will remain undiagnosed in their lifetime. The Focus Foundation seeks to spread the awareness and increase the earliest diagnosis possible and targeted treatment to allow each child to reach his or her full potential and receive the optimal treatment.
Our aim is to bring together all involved in the healthcare journey, including patients and their families/carers, healthcare professionals, innovators from pharma and the medical device/digital health world, journalists and politicians. By seeking diverse perspectives from across Europe, we hope to foster greater understanding and advance patient care.
Topics to be presented in our 12 parallel sessions are as follows:
Richard Stephens (London, UK)
Let’s talk: better communication in healthcare
Doris Schmitt (Konstanz, DE)
Harnessing patient experiences-for science, healthcare and policy
Achim Kautz (Cologne, DE)
What should participatory medicine look like?
Dr. med. Ros Crooks (London, UK), Dr. med. Michael Nnaji (Berlin, DE)
My uninvited guest: perspectives on chronic disease in young and old
Ronny Allan (London, UK)
Ill health in women: a special case?
Birgit Bauer (Abensberg, DE), Katerina Tsekoura (Athens, GR)
What annoys us: patients’ and doctors’ views (debate)
Prof. Dr. med. Rajan Somasundaram (Berlin, DE)
Partnering with industry: how should patients and industry effectively collaborate?
Len Starnes (Berlin, DE)
The changing face of palliative care
Dr. med. Adrian Tookman (London, UK) and Dr. med. Christina Gerlach (Mainz, DE)
The psychology of illness: how to cope better?
Dr. Esther Murray (London, UK)
Patient-centred healthcare: can we afford it?
Katharina Kolbe (Meerbusch, DE)
THIS EVENT WILL BE IN ENGLISH.
Our programme has been developed by an eminent group of patient leaders under the banner of the European Health Innovation Collaborative (EuHIC). The conference is being delivered on a pro-bono basis by Stgilesmedical London & Berlin.
Bona fide patients, relatives and carers affected by significant chronic disease: €75
Students and trainees €50
EuHIC-supported patients: Free (5 x tickets only)
Register at www.euhic.com. For more details, contact Rob Davies at email@example.com / +49 (0) 305 9008 3330
Time: 9:00 AM – 5:00 PM
Venue: Dubai, UAE
Me Conferences is privileged to welcome all global participants to attend GULF CONGRESS ON RARE DISEASES 2018 being held from August 27-29, 2018 in Dubai, UAE. The theme of the conference "Fighting Rare Diseases with Innovative Techniques” and is specialising in the study of the Infectious and Rare Diseases.
Keynote Presentations, Extraordinary Sessions, Workshops, Symposiums, Outstanding Speakers, Poster Presentations and Exhibitions.
When I was a teenager I would get horrible sudden, inexplicable pains in my right side. On one of the occasions I was rushed into hospital curled up into what can only be described as a “ball of anguish”, my mother turned to the doctor and asked “could it be kidney stones?"
Oh no, she’s far too young for that
Now, this is no rant against that doctor, because she had my best interests at heart, and it turned out the pain I had was due to something very rare.
See, I have Cystinuria. Others with this genetic disease will be familiar with the problems in diagnosis thanks to the rarity of it, how difficult it is to see cystine stones on certain scans compared to more common calcium stones, and in my case one kidney being far more productive than the other.
It wasn’t until I was in my early twenties, when I experienced the same pain my left said for the first time ever that it clicked; it wasn’t one organ causing the problems but two, and the pain fit perfectly with renal colic pain.
Finally having a doctor give me some kind of accurate diagnosis was amazing, not least because he called me a “stonemaker” in a fantastic Scottish accent. However, it was a couple more years before I was properly diagnosed; only after collecting my pee and lugging it back to the hospital for it to be fully tested was I fully diagnosed as having cystinuria, a disease causing a high concentration of cysteine acid, which crystallises to form rare kidney stones.
Like all diseases, it’s not glamorous and it’s not fun. Whilst I don’t have to deal with the pains and problems of other unseen illnesses, such as my sister who lives with Ehlers-Danlos syndrome, I instead have the joy of that worry that another stone might just happen and ruin all my plans. When the pain hits, all you can do is curl up with some painkillers hoping that it will pass, or rush to A&E. I once missed a Danny Elfman concert at the Royal Albert Hall due to a stone and I was more than a little heartbroken.
I do have some treatments in place, the main one being drinking as much water as possible, ideally over 3.5 litres a day. Even as I write this, I have water within arm’s reach to sip away at, and when I work I try to always have a drink of some sort at my side, being careful that it’s not one of the ones that will ironically dehydrate me. As a lover of tea, I’ve had to substitute a few of my many daily cups with alternatives; in fact, upon hearing another cystinuria sufferer found that mint tea helped them, I and my mother have since kept the cupboards stocked up with the stuff.
In terms of medicine, I’ve been on a few different options: liquid potassium citrate (which tastes awful), sodium bicarbonate (yes the stuff you put in cakes), back to potassium citrate (in less-gross tablet form). I’ve been on Tiopronin (which I would be on right now if there wasn’t a shortage) and I’m currently on a short dose of penicillamine to try and clear out some gravel currently residing inside me.
In terms of day-to-day stuff, Cystinuria UK (http://www.cystinuriauk.co.uk/) has been a godsend for me. Through this site I’ve managed to get some solid advice that I’ve been able to use and chat to my doctor about. Also they help spread the word about Patient Days organised by the Rare Renal Disease Group (RaDaR); I went to one last year and it was amazing to be in a room full of other people who had such similar stories to me. I didn’t feel alone; everyone understood what I was living with.
Because cystinuria is so rare and not immediately visible, sometimes people who don’t live with it forget you have it. Friends buying rounds in the pub ask, “oh, can I not treat you to something stronger?” when I ask for a sparkling water, only to say, “oh, no, of course, kidneys” when I remind them. And it’s not that they don’t care, it’s just so hidden. Hell, even I forget once in a while, having to have alarms for my medicine, and finding myself looking up from work I’ve been engrossed in on my desk, only to see the un-drunk glass of water next to me and quickly have to gulp some down. Fortunately, the Patient Day and groups like Cystinuria UK offer great advice on how to make little changes to make it all a bit easier from people dealing with the same things as me.
Best tip I got from them? Drinking through a straw helps you drink more. It really does.
Regular scans and specialist visits are in place to try to find and deal with large, problem stones via surgery before they block a kidney. However, my kidneys are particularly pro-active when it comes to making stones (I have 10 times the normal amount of cystine in my kidneys without treatment), and when the stones come, so does the pain, and it sucks.
I’ve had so many stones, and I’ve never known pain like it; it feels as if your insides are about to explode (which they sort of are, as your kidney swells up like a particularly gross water balloon). Other side effects I get alongside the pain are severe nausea (especially for particularly bad stones that will take ages to pass or need surgery) and generally feeling sorry for myself.
Fortunately though, I live in the UK. I have the NHS. I can take a prescribed painkiller given to me for stone pain, go straight to my local A&E without thinking, and once I’m there my diagnosis means I can go straight up to the counter and say “it’s a kidney stone and I just threw up all my painkillers because of the nausea”. My ridiculously large amount of records there mean they can look me up, confirm my condition, and push me through to be treated and looked after by the extremely hard working staff of the NHS. I can’t express just how grateful I am for this (particularly intravenous painkillers and anti-sickness drugs, I wouldn’t be able to handle renal colic without them).
All in all, this is a disease that is extremely frustrating, and boring, to live with. The biggest help is drinking lots of water, which is monotonous and means you spend a lot of your life in the bathroom, or in desperate search of one. One upside is that I have endless stone and hospital-stay stories, so I’m always interesting at parties.
But, to vent a little: don’t give me advice on how to reduce calcium stones, yes everyone makes the “you should start a jewellery line” joke, and if I have one more person tell me, “oh you should drink more water” when I say I get kidney stones, I might scream.
Do, however, make all the stone, crystal, and gem puns you want. They rock. And so does the NHS.
Rare Revolution Editor