Medics For Rare Disease

RCPH-BPSU series: Type 2 Diabetes in children and young people
2021-06-11 12:00 - 13:30 (Europe/London) | ONLINE
There is growing evidence that the increase in childhood obesity has resulted in cases of Type 2 diabetes being diagnosed in younger age groups.
Although the incidence of Type 2 diabetes is increasing, the condition is still relatively rare in children, and therefore the symptoms and clinical presentation of it in children may not always be clear to paediatricians who have not encountered the disease in children before. This can cause late and misdiagnoses of the condition and this often causes additional emotional and financial burdens on the patients and their families.
In this webinar, Prof Julian Hamilton-Sheild and Prof Timothy Barrett will present the findings of the 2015-16 BPSU study.

Precision Medicine & Rare Disease
2021-06-10 15:00 - 21:00 | ONLINE
If you work in rare diseases or rare disorders, this conference is one you cannot miss. Come and hear talks and discussions by leaders in academia, biotech, pharmaceuticals, diagnostics, clinical research, informatics, healthcare and regulatory bodies at the world’s most informative virtual conference.
Patients living with rare diseases are often persistently misdiagnosed or undiagnosed, potentially resulting in no treatment at all or treatments that are ineffective or unsafe. Due to the lack of definitive diagnostics or efficacious and safe therapies, foundations and research centers have been raising funds for re-purposing existing therapeutics or developing new drugs (typically classified with an orphan drug status). As the development of biomarkers and genetic signatures continues to progress, techniques and technologies are anticipated to become more precise and comprehensive, thereby reducing the time to rare disease diagnoses.
This conference will cover the following topics and more:

Experiences from all parties – patient journeys, doctors’ consultations, payer perspectives
Recruiting rare disease patients for clinical trials
Tools that allow online access for patients, doctors, data sets, multi-participant meetings
Challenges of treating rare disease patients and families during a pandemic
How large, medium, and small companies in pharma, clinical, and diagnostic groups are addressing rare disease challenges, including translational medicine, data analysis, economic modeling, real-world data capture

Mobilising pathways to accommodate new transformative treatments - using CF as a case study
2021-05-13 17:00 - 18:00 | ONLINE
Join OPEN HEALTH for a live webinar exploring the journey of RARE pathway transformation and the introduction of disease-modifying treatments as part of their Rare Thoughts and Outcomes series.
Learn from the experiences of patients, parents, and physicians about how cystic fibrosis pathways are rapidly adapted and what learnings can be applied to other rare diseases to strive for positive outcomes for all.
Hopefully many more rare diseases will soon have disease modifying treatments that have the potential to transform patient lives. However if diagnostic, treatment and management pathways are not ready or fit for purpose then patient access will be delayed. This panel will discuss recent experiences in Cystic Fibrosis during a time when disease modifying agents were introduced. The panel will discuss this revolution in the treatment of this disease through the eyes of patients, parents and physicians to explore what can be applied to accelerate pathway development in other rare diseases.
Panelists:
Tracey Daniels – Clinical Lead, York Teaching Hospital Foundation Trust
Ella Balasa – Patient Advocate and Health Engagement Consultant
Eleanor Thistleton – Parent and Medical Communications Expert, OPEN Health
Tom Smith – Patient Advocate and Life Science Public Engagement Expert
Panel Chair – Gavin Jones, Global Advisor, Rare Diseases, OPEN Health

RCPH-BPSU series: Bechet's Syndrome in children and young people
2021-05-10 13:00 - 14:00 | ONLINE
Behçet’s syndrome is a rare multi-system inflammatory condition characterised by recurrent oral ulceration, genital ulceration, eye and skin involvement. In this webinar, the panel of speakers will present the findings of the 2017 BPSU study.

Speakers:

Dr Clare Pain, Consultant Paediatric Rheumatologist, Alder Hey Children’s NHS Foundation Trust, Lead of Paediatric Behcet’s service at Alder Hey and chief investigator on BPSU Behcet’s study
Dr Daniel Finn – StR in Oral Medicine, Liverpool University Dental Hospital
Professor Robert Moots
Professor Paul Brogan

Learning outcomes:

Understanding how UK children are affected by Behçet’s syndrome
Improve knowledge of differential diagnoses and investigations of Behçet’s like presentations including recurrent oral ulceration
Management of Behçet’s syndrome in children and young people
The role of genetic testing and monogenic mimics
How to manage recurrent oral ulceration

COVID-19 from a Paediatric Perspective: an online BPSU-PHE symposia series
2021-04-26
The British Paediatric Surveillance Unit in collaboration with Public Health England will be hosting a symposia series exploring how COVID-19 has impacted on the paediatric service and children and young people.
The aim of the symposia series is to consider the impacts of COVID-19 on children and paediatric services. Attendees will be informed on current research being undertaken in this area, discuss how such research is informing treatment and to explore the extent to which the pandemic is affecting children.
The series takes place over two days.

Ensuring inclusive communications around genetics
2021-04-21 11:00 - 12:30 | ONLINE
Genetics is complex, and talk of genetics, and even science, can turn many people off from engaging with clinicians or self-management of their conditions.
Findacure is teaming up with charity Breaking Down Barriers to deliver an informative webinar on understanding genetics in the rare disease field.

This webinar will:

Highlight the role of genetics as both a tool to access diagnoses and understanding of rare conditions, and a barrier to understand and discuss these diseases and their inheritance.
Highlight case studies of what others in the rare community are doing to support with genetic diagnoses
Signpost to pre-existing resources that your patient organisation can access

East Paediatric Genomics Forum: Drawing Family Histories like a Pro!
2021-04-16 08:00 - 17:00
Paediatricians and Neonatologists from East of England and East Midlands are invited to join this event to discuss the taking and drawing of family history with a number of ‘patients’/cases presented by the Clinical Genetics Team.
During this session you will:

Hear examples of how to take family history
View a demonstration of drawing a pedigree
Have the opportunity to ask questions

Join the meeting here, note you will be asked to register:

Medicine and Me: Living with pulmonary fibrosis, looking to the future
2021-04-08 18:00 - 19:30 | ONLINE
Jointly organised with Action for Pulmonary Fibrosis, this meeting will give you an understanding of what it is like to live with Idiopathic Pulmonary Fibrosis (IPF) from people living with the disease.
Pulmonary fibrosis (PF) is thought to affect around 70,000 people in the UK. One of the most aggressive and common forms of PF is Idiopathic Pulmonary Fibrosis (IPF).
This webinar will discuss the current approaches to diagnosis, active treatment and symptom management of IPF from the perspective of patients and their carers and explore the latest cutting edge research.
Register now

East Paediatric Genomics Forum
2021-03-25 12:30 - 13:30 | ONLINE
Paediatricians and Neonatologists from East of England and East Midlands please join to learn more about the Genomic Medicine Service and the testing services the East Genomics Laboratory Hub provides.
During this first session you will:

Gain an overview of the Genomic Medicine Service
Understand how to order a test from the test directory
Meet scientists from the East Genomics Laboratory Hub

Join the meeting here – you will be asked to register.
The East NHS Genomics Lab Hub are looking for your input to shape these sessions going forward so please let them know if you have anything in particular you would like to share or discuss.

Rare Diseases in Dermatology: Parent perspective - life with Xeroderma Pigmentosum
2021-03-22 18:00 - 19:00 | ONLINE
Nicola Miller will be talking about her experiences of caring for her son, who has a rare skin condition, Xeroderma Pigmentosum, and how clinicians can improve care for children with rare conditions and their families.
Barts & The London Rare Disease Society are excited to welcome Nicola Miller, founder of the Teddington Trust, a rare disease patient support charity, and Editor of Rare Revolution magazine to their next webinar.
Complete this form to book your place

Inaugural Rare Disease Nurse Network Webinar
2021-03-22 17:15 - 18:00 | ONLINE
Are you a nurse/allied health professional working or interested in rare diseases?
RDNN are building a community to support each other, share stories and learn from their peers to improve the care they offer to rare disease patients and their families.
Join them for their first webinar, featuring Liz Morris, Lead Specialist Nurse in the Lysosomal Disorders Service at Addenbrookes Hospital, Cambridge. Liz will be discussing the process of setting up and running Commissioned Services in Rare Disease, covering the trials, tribulations, pitfalls and benefits.
If you are interested in Rare Disease services, setting up Commissioned Services or are working in the Rare Disease environment, this webinar is for you. Can’t make the live event, not to worry, if you register RDNN will share a recording on their website – www.RDNN.org and let you know when it is live.
Connect on Twitter: #@NurseRare

Rare diseases in primary care - the needles in the haystack (but there are a lot of needles!)
2021-03-04 18:00 - 19:30 | ONLINE
Dr Will Evans will explain how rare diseases are not only relevant to general practice but how GPs are best placed to holistically support people with rare diseases and their families.
Barts & The London Rare Disease Society are very excited to be joined by Dr Will Evans, a GP in Leeds, an academic in the PRISM group at the University of Nottingham and the clinical lead at Mendelian, a health technology company using data driven approaches to shorten the diagnostic odyssey for rare disease patients.
Will’s interests are in personalised medicine, the adoption of genomic technologies in primary care and improving the diagnosis and care of rare disease patients. Will’s eldest son has an ultra-rare disease, Niemann-Pick disease, type C, and is the chairman of the board of trustees of the national charity NPUK.

Complete this form to book your place

The Unusual Suspects 2021
2021-02-24 18:00 - 20:00 | Online
The Unusual Suspects: Rare disease in everyday medicine is returning to The Royal Society of Medicine on 24th February!
This year it will all be online, in the evening and free so there is nothing stopping you from joining us. We will be focusing on DIAGNOSIS. Why is a diagnosis so important and why is it imperative that diagnosis comes as early as possible?
We will be hearing from patients, parents, advocates and clinicians. We are particularly excited to hear about how early diagnosis can allow for gene therapy to change the lives of children born with debilitating rare diseases.
BOOK NOW!
AGENDA on 24th February 2021 via Zoom:
6:00pm Welcome and introduction
Dr Lucy McKay, Chief Executive Officer, Medics for Rare Diseases
6:05pm Rare Disease 101
Dr Lucy McKay
6:15pm The undiagnosed diseases program
Dr Gareth Baynam, Clinical Geneticist, Genetic Services of Western Australia
6:30pm Shortening the diagnostic odyssey through newborn screening
Georgina Morton, Founder and Chair, ArchAngel MLD Trust
6:45pm Harnessing the power of gene therapy after diagnosis
Prof Bobby Gaspar, Honorary Clinical Professor, Great Ormond Street Hospital and the UCL Institute of Child Health and CEO, Orchard Therapeutics
7:00pm Panel discussion
7:15pm I am Number 17 Campaign
David Rose, Rare Disease Patient and Advocate from Rare Revolution Magazine
7:30pm Winner of Student Voice Prize 2020
7:40pm Panel discussion
8:00pm Close of meeting

Refsum Disease from an Ophthalmology Perspective
2021-02-23 12:00 - 13:00 | ONLINE
Dr. Bart Leroy, MD, PhD will present the Ophthalmology side of Refsum Disease and the benefits of early diagnosis by clinicians
Adult Refsum Disease is a genetic disorder impacting the metabolism of phytanic acid. The key symptoms are Retinitis Pigmentosa, loss of smell, hearing loss, numbness, balance issues, itchy skin, shortened fingers and toes. It is one of the few causes of Retinitis Pigmentosa that has a proven dietary therapy to slow vision and hearing loss. Therefore, early diagnosis is critical.

Register NOW for this FREE online event

Being rare: a patient tale of being diagnosed in an OSCE
2020-12-14 17:30 | ONLINE
Wyburn-Mason syndrome. Ever heard of it? Dan Jeffries has, and his insightful talk explores what it’s like living with one of the world’s rarest medical conditions – to then discover you have another one.

Barts & The London Students for Rare Diseases are excited to invite you to their first online event of the year!

They’ll be hearing from Dan Jeffries, a well-known figure in the rare disease community. Dan is a Trustee for Medics 4 Rare Diseases, a Volunteer Ambassador for The Pituitary Foundation and has spoken at numerous rare disease events around the world.

The event will be hosted on Zoom – please sign up via the form below and we will send you a link.

The genomic revolution: A practical guide to what you can’t afford not to know - Part 1
2020-12-03 17:00 - 18:00
This exciting 3-part webinar series sees representatives from NHS England give an up-to-date outline of the changes in genomic infrastructure which will transform the provision of genomic testing in the NHS.
In this first webinar, top speakers will help clinicians understand how the increasing availability of state of the art genomic testing in the NHS will impact their day to day clinical practice.
Webinar topics include:

Discuss recent advances in genomic testing and how they have been integrated into clinical testing pathways within the NHS
Understand how genomic tests are generated
Familiarise yourself with the process of the clinical interpretation of genomic results

RareFest20
2020-11-27 - 2020-11-28 | Guildhall Cambridge, Cambridge, United Kingdom
FREE to attend, RAREfest20 is a full day Cambridge Rare Disease Network festival featuring interactive hands-on exhibits showcasing cool science, visionary technology, and pioneering organisations improving lives and bringing hope to those affected by rare diseases.
Alongside the exhibition there’ll be inspiring talks from experts and powerful patient voices, rare disease inspired art and films.

Virtual Rare Disease Showcase
2020-11-17 - 2020-11-19
Findacure’s Rare Disease Showcase series is a celebration of rare disease projects around the UK
Findacure’s Virtual Showcase is designed to be a unique event, with interactive sessions taking place over a three-day period, including conversations on telemedicine, artificial intelligence, patient group innovations, and the impact of Covid-19 on rare diseases. Our online stage will include talks from across the rare disease spectrum, supplemented by roundtable discussions, networking sessions, one-to-one video chats, virtual exhibitions and more.
Whether you wish to attend a single session, or three days of fun, secure your place now for free at The Virtual Rare Disease Showcase

Vasculitis: registries, pathways and therapeutics
2020-11-11 11:00 - 2020-11-12 12:00
This free 2 day webinar will provide a comprehensive update on all UKIVAS group activities and plans for the future, along with recent clinical and research updates in vasculitis.
This is a multidisciplinary webinar where adult and paediatric vasculitis management will be examined.
The themes highlighted are relevant to; renal, rheumatology, respiratory, ENT, dermatology and all other disciplines involved in vasculitis management.
The RSM is proud to partner this webinar with UKIVAS, a national rare diseases group co-chaired by Professor Mark Little and Dr Neil Basu.
Webinar topics include:

The assessment and treatment of organ-specific manifestation in systemic vasculitis.
UKIVAS registry activity update with an outline of recent national bioresource and genomic developments.
New therapies in complement, new biologic combination approaches and trial pathways.
Service development, quality improvement and communication networks.

Wolfram Syndrome virtual conference
2020-09-26 | Online
Planning is ongoing for The Wolfram Syndrome UK’s 9th annual conference, which this year will now be a virtual conference on Zoom taking place over two days: Saturday 19th and Saturday 26th September.
19th September
2.00-3.00 pm Urology Presentation – Mr Liam McCarthy from Birmingham Children’s Hospital

26th September
9.30-10.15am Ophthalmology workshop #1 – Talia Treen from Queen Elizabeth Hospital, Birmingham
10.30-11.15am Ophthalmology workshop #2 – Talia Treen from Queen Elizabeth Hospital, Birmingham
11.30am-12.15pm Speech and Language workshop for swallowing/choking – Georgie Smith from Queen Elizabeth Hospital
1.00-2.00pm Lifelong treatment with GLP1 receptor agonist in rat model of Wolfram syndrome – Drs Mario Plaas and Anton Terasmaa, Estonia
2.15-3.00pm TREATWolfram Update – Prof Tim Barrett and Dr Ben Wright – Birmingham Children’s Hospital and Queen Elizabeth Hospital, Birmingham.
3.15-4.15pm Optic nerve involvement in Wolfram syndrome – Mr Patrick Yu Wai Man, Cambridge University and Moorfields Eye Hospital.
How to register for the workshops has been sent out by email to WSUK members only due to restrictions on numbers. Programme is subject to change. Email admin@wolframsyndrome.co.uk for more details on how to register for each webinar.

Educating physicians in rare disease - Reducing the diagnostic odyssey and improving outcomes
2020-07-16 15:00 - 15:45 | Webinar
This webinar will introduce Medics 4 Rare Diseases whose mission is to drive an attitude change towards rare diseases amongst medical students and doctors in training. In addition Lucy McKay, CEO of Medics 4 Rare Diseases and Gavin Jones, Director of Rare Disease, will be discussing core educational principles required to deliver better patient experience and outcomes for those living with rare diseases.

COVID-19 and rare diseases: Risks and opportunities posed by the pandemic
2020-06-22 12:30 - 13:30 | Webinar
This unique webinar unites experts from primary care, advocacy and medical genetics within the rare disease sector to discuss the impact of the virus on the rare disease community.
Participants will hear about the short and long-term impact of shielding, consider how to best protect vulnerable populations in the future, and reflect on the potential beneficial changes to services as a result of the pandemic – most acutely felt by people with complex diseases who depend on an intricate framework of support.
Speakers:
Ms Lindsay Weaver, CEO of Metabolic Support UK
Dr Will Evans, Clinical practice GP and academic GP, University of Nottingham & Chair of NP-UK
Dr Elizabeth Forsythe, Specialist Registrar in Clinical Genetics at Great Ormond Street Hospital

The 10th European Conference on Rare Diseases & Orphan Products (ECRD)
2020-05-15 - 2020-05-16 | ONLINE
The European Conference on Rare Diseases & Orphan Products (ECRD) is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.
The event draws together more than 800 participants from over 50 countries around the world. Leading, inspiring and engaging all stakeholders to take action, ECRD is where innovative solutions in the rare disease field are born. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators.

Medicine and Me: Living with pulmonary fibrosis
2020-03-13 10:00 - 15:30 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Jointly organised with Action for Pulmonary Fibrosis, this meeting will give you an understanding of what it is like to live with Idiopathic Pulmonary Fibrosis (IPF) from people living with the disease.
Pulmonary fibrosis (PF) is thought to affect around 70,000 people in the UK. One of the most aggressive and common forms of PF is Idiopathic Pulmonary Fibrosis (IPF). Idiopathic means it has no known cause. IPF normally affects people over 50 and is slightly more common in men than women. There are limited treatments and there is no cure. Life expectancy can be between three to five years following diagnosis, and around 6,000 people die from it every year in the UK.
Learn more about current approaches to diagnosis, treatment and management of IPF from the perspective of patients, their carers and clinicians, as well as gaining an insight into the psychological and emotional wellbeing of those living with IPF. We’ll also explore the cutting edge research into improving outcomes and palliation, as we consider areas of inquiry likely to deliver step changes in treatments.

Drug Repurposing for Rare Diseases 2020 Conference
2020-02-24 10:00 - 18:00 | America Square Conference Centre, 17 America Square, London, EC3N 2LB, United Kingdom
Findacure’s Drug Repurposing for Rare Diseases Conference is returning for its seventh consecutive year!
Findacure’s 7th annual conference will showcase excellence in the development of repurposed drugs for rare disease patients, highlight the potential for patient group-led innovation, and emphasise repurposing as a valid business model for orphan drug development in industry. Held in celebration of Rare Disease Day, our event will unite the rare disease community to share in groundbreaking drug repurposing projects that can bring real change to those living with rare diseases.

The unusual suspects: rare diseases in everyday medicine
2020-02-19 12:30 - 18:00 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Medics 4 Rare Diseases and the RSM will bring a faculty of top speakers to explore how rare diseases are relevant in everyday clinical medicine
This event is aimed at clinicians at all stages of their training to explain why rare diseases are important to everyday medicine. We will explore how generalists can approach patients with rare diseases and become advocates for them. We will hear from a patient who suffered a long and arduous journey to diagnosis as a child and now uses her illustrations to tell her story. We will also learn about drug repurposing.
Topics include:

How rare diseases are relevant to every doctor’s career in medicine
A patient’s perspective
Reducing the diagnostic odyssey in rare diseases
Drug Repurposing in Rare Diseases
How to be a rare advocate/ally
How the work of Medics 4 Rare Diseases and the RSM Genetics Section play a role in rare disease education

This year we are really excited to be able to provide a limited number of student travel bursaries for our annual symposium at The Royal Society of Medicine to enable students who live outside of London to attend our event. Please see our website for T&Cs
Early Bird Rates available until 8 January
RSM member: £15-£25
Non member: £20-£30
Registration starts at 12.30 and the event begins at 1pm.
BOOK NOW

Rare disease spotlight: Aspergillosis
2020-02-03 18:00 - 21:00 | Barts & The London School of Medicine – Garrod Building, London, E1 2, United Kingdom
In collaboration Barts & The London, we will be shining the spotlight on Aspergillosis
Fran Pearson, a patient who was diagnosed with Aspergillosis and Dr Darius Armstrong, a consultant in Infectious Disease and Mycology will be hosting this event.
You will have the opportunity to learn more about the patient’s experience of being diagnosed with a rare infectious disease and the challenges faced by doctors when diagnosing patients with infectious diseases.

Hit and Miss: Genetic diagnosis, misdiagnosis and learning
2020-01-28 18:00 - 19:30 | Kings College London Guys Campus, New Hunt's House, London, SE1 9RT, United Kingdom
A potpourri of genetic diagnosis, misdiagnosis and learning experiences
KCL Medical Genetics Society’s second lecture of the year will held by Dr Willie Reardon, sharing his experience as a Consultant Clinical Geneticist at Great Ormond St Hospital for Children, Hospital for Sick Children Toronto and Our Lady’s Children’s Hospital.

A Puff of Smoke Talk and Workshop w/ author and artist Sarah Lippett
2019-11-22 13:30 - 14:30 | The Centre for Better Health, 1A Darnley Road, London, E9 6QH, United Kingdom
A Puff of Smoke (published by Jonathan Cape 7th November) is a graphic memoir about what it is like to grow up with an illness that no one can diagnose.
Sarah Lippett spent eleven years suffering with symptoms from an unknown condition, until she was diagnosed with the rare disease Moyamoya at the age of 17.
For the month of November(1st – 29th November) an exhibition will be held at The Centre For Better Health that will explore the wider themes of the memoir.
Join Sarah as she talks through the process of revisiting her past and piecing it back together as a graphic memoir. The talk will be followed by a short workshop where participants are invited to create sequential narratives based on their own lived experiences. No drawing experience necesssary. Book your place now.

Direct-to-consumer genetic testing: Health and ancestry
2019-11-22 08:30 - 17:00 | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
The direct to consumer genetic testing is on the rise worldwide, and while these tests provide people access to their genetic information without necessarily involving a healthcare provider, the patients search for their doctors’ advice on the results.
From genealogy to health, healthcare providers are expected to be able to respond to the patients’ questions and be well informed of the benefits and risks of genetic testing direct to the public.
Through multidisciplinary lectures from renowned specialists as well as lively panel discussions, this event will give you a comprehensive view of the tests available and their implications. The meeting will close with a rerun of the dynamic 2018 Varsity debate on the subject and votes from the audience.
Meeting topics:
– The genetic tests on offer, both for health and for ancestry.
– Insight into the implications of DTC genetic testing.
– Understand the potential impact of DTC in liver cirrhosis
– Discuss the ethical concerns and challenges posed by DTC
– Know the precision of ancestral DNA testing
– Understand the impact of ancestral testing on populations
Early bird pricing available until 18 August 2019
