Tide Lines supports BBS UK!
Tide Lines are a four-piece band from the Scottish Highlands whose members Robert Robertson, Ross Wilson, Alasdair Turner, Fergus Munro, can be seen here supporting BBS UK with the Wilkie family in May.
Their sound has been described as “...Folk with rousing rock, sparkling electronics and escapist lyrics....awash with arms-aloft sing-alongs.” (The Sunday Times) and “...roaring tunes embracing anthemic lift-off and wide-eyed wonderment” (The Daily Mirror)
Their latest album, Eye of the Storm, finished its first week at number 12 in the UK Album Charts in May 2020: topping both the Scottish and Independent album charts in the process.
In 2019, they were named “the Rising Sound of Scotland” at the Nordoff Robbins Scottish Music Awards - one month after selling out the 1900 capacity Barrowland Ballroom in just 5 minutes.
Thank you guys for your support, it means a lot!
Professor Phil Beales Launches Axovia Therapeutics
Professor Phil Beales has led the most comprehensive research and care efforts for Bardet-Biedl Syndrome (BBS) patients in the world and is now launching Axovia Therapeutics, alongside Dr. Victor Hernandez. The aim of Axovia Therapeutics is to advance gene therapy programs that have already shown early promise in treating some of the most severe symptoms of BBS, such as early onset blindness and severe obesity. Members of BBS UK will be familiar with the research of Professor Beales and Dr. Hernandez through attending the BBS UK Conference and reading the Conference Reports.
“Our goal is to build on the scientific discoveries and molecular diagnosis of Bardet-Biedl syndrome to accelerate the development of disease-transformative treatments for patients as early as possible,” said Philip Beales, CEO and co-founder of Axovia Therapeutics. “Our aim is to halt the progression of BBS so patients and families will experience dramatic improvements in their quality of life.”
The Axovia team is currently working to develop a gene therapy treatment for BBS1, which affects many organs of the body. The major impact of BBS includes early-onset retinal blindness, metabolic disease (including severe obesity and diabetes), intellectual disability often with autism, kidney failure and a range of abnormalities of the endocrine system.
Axovia is a majority-owned subsidiary of Jaguar Gene Therapy. Jaguar brings streamlined research and design, manufacturing and clinical operations to accelerate development and potential approval of therapies for severe genetic diseases. Axovia is backed by Deerfield Management, a healthcare-specific investment firm, partially funded by University College London Technology Fund.
Professor Beales has long been at the forefront of research, discovery and clinical care of BBS. Discovered in 1866, BBS lacked diagnostic criteria until Professor Beales established them in 1999. A year later, he co-led the team that discovered the first BBS gene and determined that the cause lies with dysfunctional cilia. This work has driven research efforts for treatments for BBS and the broader disease group of ciliopathies. Alongside this, Professor Beales developed the specialised multi-disciplinary clinics service that has provided exemplary care for patients in the UK for over ten years.
To help answer any queries that you may have BBS UK have created a Question and Answer document which can be accessed here: BBS UK - Axovia Q+A March 2020
For the website click here: https://axoviatherapeutics.com
The Body and Mind Toolkit for Adults and Children
BBS UK would like to extend our thanks to Bernie Stocks, Commissioning Manager, Highly Specialised Services, NHS England. Bernie has kindly shared some of the fantastic resources a number service leads, charities and stakeholder groups have provided to help people manage better through the second phase of the pandemic. Within the document you will find links to advice and information on wellness and sleep and diet and exercise with a particular focus on how to manage these aspects of health during the COVID-19 period. Click on the link below to download the document. If there is anything you would like to clarify or if you need any further information please feel free to contact us, we’re here to help! email@example.com
Cooking for visually impaired - Gareth is an inspiration!
A wonderful video from Gareth, a young member of BBS UK sharing his love for cooking! Gareth borrowed some specialist cooking equipment for the visually impaired from his local council and used it to make some very tasty looking cookies. Well done Gareth!
BBS UK Christmas Cards - on sale now!
The BBS UK Christmas cards are available now! They're A6 size with envelopes and cost £3.75 for 5 or £ 7.50 for 10 (this includes postage and packing). If you are interested in purchasing some for Christmas please send your order requirements and postal address to Christine.firstname.lastname@example.org.
Cheque – All cheques must be made out to BBS UK and sent to 161 Finedon Road, Irthlingborough , Northants. NN9 5TY.
Online – Online banking payments accepted. Account name: Bardet Biedl Syndrome U.K, Account number 20368253, Sort Code 20-19-97. Please write “Cards” in the reference.
Tom Horn runs the London Marathon
BBS UK Conference Announcement
BBS UK release an Education Booklet for Parents
September sees the release of a “Booklet for Schools and Colleges, supporting children and young people with Bardet-Biedl Syndrome in learning environments across the UK.”
This publication has been produced by Bardet-Biedl Syndrome UK (BBS UK) to promote a greater understanding of BBS and the journey through education from reception to 25. It is aimed at the educational professionals working with children and young people who have BBS, to enable them to more effectively support their students to reach their full potential.
Packed with handy tips, informative clear advice and signposting to existing support agencies, this booklet serves as a tool to help all feel more able to address the multiple challenges that Bardet-Biedl Syndrome can present.
Clinical lead for BBS UK, Tonia Hymers says, “It is estimated that Bardet-Biedl Syndrome (BBS) affects approximately 600 people in the UK. Many GPs, doctors, health professionals and educators will not have come across BBS before and there are many who have not heard of the syndrome. BBS UK is committed to creating resources to help schools & colleges meet the needs of their pupils with this condition, to give them every opportunity and the right support to achieve the future they are entitled to and are capable of achieving.”
Each booklet has a fold out passport where the student can express their condition, individual requirements, and interests to support their journey through education.
The printed booklets will be distributed to parents of children with BBS during the autumn term, for them to pass on to their child’s teacher and support team. The booklet is also available to download via the following link https://bbsuk.org.uk/education/ or contact email@example.com quoting Education Booklet to receive a print copy.
Shout-out for the Roache Family
Neil Roache (brother of Graeme) successfully completed the Three Peaks Challenge in 23hrs 5 mins and has raised £1508 plus £195 Gift Aid for BBSUK. He began the challenge at 4pm on 8th July at Snowden finishing at 3.05pm on 9th July at Ben Nevis. Robert, his dad was his driver and safety man on the ground. Snowden (weather was dismal), Scafell Pike was done in darkness!
Weather in Scotland for Ben Nevis was dry and sunny. Graeme, his mum Margaret and Mirin the dog, met the guys in Fort William before Neil did his last climb on Ben Nevis. This was a huge personal challenge for Neil and we are absolutely thrilled he raised much-needed funds for BBS UK at the same time. WELL DONE AND THANK YOU! (Photo shows Graeme, Neil and Mirin at Ben Nevis)
BBS UK Big Summer BBQ
BBS UK Big Summer BBQ kicked off on Saturday 25th July - an opportunity for us all to celebrate together (albeit virtually), have fun, enjoy some delicious food while at the same time raising crucial funds for the charity! Don’t worry if you’ve been rained off or haven’t didn’t have chance to do yours yet – it’s open all summer for anyone that’s interested to join. More info here: https://bbsuk.org.uk/fundraise-bbs/
BBS UK Summer Newsletter
We're excited to announce the BBS UK Summer Newsletter is now published! To view click here: https://bbsuk.org.uk/newsletters/
This edition includes our latest news, updates, fundraising announcements, personal stories from our members, research opportunities as well as lots of useful info & resources.
HAPPY READING and please keep in touch via firstname.lastname@example.org, we welcome feedback, ideas and suggestions for future articles!
Covid-19 Information Hub
The BBS UK COVID-19 Information Hub has been updated to reflect changes to social distancing guidance and the new government advice for those shielding (which comes into force on Saturday 4th July). We hope you find the information helpful, click here for access: https://bbsuk.org.uk/coronavirus-information/