Medics For Rare Disease

BPSU Tea Party
2019-07-10 13:30 - 17:00 (Europe/London) | Royal College of Paediatrics and Child Health, 5-11 Theobalds Road, London, WC1X 8SH, United Kingdom
The British Paediatric Surveillance Unit invites you to this year’s event to enjoy afternoon tea and cakes, hear young people speak about their experience of living with rare disease and visit informational stands.
The BPSU rare disease tea party will bring together stakeholders from across the rare disease community to hear young people and patient advocates speak about their experience of living with rare disease and working in the rare disease field.
This event is intended to be an informal networking opportunity with children and young people and carers, healthcare professionals, researchers and policy makers.

Health Horizons: Future Healthcare Forum
2019-06-27 16:00 - 18:00 (Europe/London) | Corpus Christi College Lecture Theatre, Trumpington Street, Cambridge, CB2 1RH, United Kingdom
Over the previous 20 years, we have seen a significant change in the healthcare industry. Small molecules have been pushed out of the blockbuster limelight by biologics. Decreasing sequencing cost has allowed more targeted R&D and the use of increasingly interdisciplinary data to influence prognosis has become standard practice. All of this points to a healthcare future with an increasingly personalized approach. But how will this future come together?
RARE DISEASE: CROSS-SECTOR COLLABORATION AND DIVERGENT THINKING IN DEVELOPING THERAPIES. Are we on the cusp of a rare disease treatment revolution?
Delegates will hear from a range of experts in this field, each with a unique perspective on the future of healthcare, treatments and cures for those affected by rare diseases.
This CRDN session brings together stakeholders from research, industry, healthcare and patient groups who are at the heart of innovative breakthroughs in therapies and technology to share their expertise in co-creating healthcare today, and for the future. Hear a mix of inspirational and thought-provoking short talks and take part in a moderated discussion session.

Managing complex neurological disorders in the community
2019-06-25 09:30 - 17:00 (Europe/London) | Council House, Birmingham, Council House, Victoria Square, Birmingham, B1 1BB, United Kingdom
This conference will delve into some of the perceived mysteries and issues associated with ‘complex’ neurological conditions, in an attempt to make them less ‘complex’, and help you to address some of the unmet care needs of the people living complex neurological disorders.
Topics include:

Epilepsy, Parkinson’s and Autism – what links them?
MND: Hope from despair through multidisciplinary care
Managing the challenges of Complex Epilepsy and Subsequent QoL impact
Uncovering a complex neurological disorder – key signs & symptoms indicating the need for a referral
When is a neurological presentation not a neurological condition?

For more information and to book tickets

Epigenetics: The Emerging Key Player in Medicine
2019-06-10 08:30 - 17:30 (Europe/London) | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Epigenetics is emerging as a key player in medicine.
Well-known experts in the epigenetics world such as; Professor Wolf Reik, Professor Stephan Beck, Professor Sir Adrian Bird, and Dr Nessa Carey will come together and give awe-inspiring talks across the epigenetics spectrum, from its role in cancer to mental health, the relevance to primary care and preventative medicine, to rare diseases and what we can learn from these.
We will hear from those at the cutting edge of the epigenetics revolution and provide valuable insights into health, disease and new treatments.
Early Bird pricing available until 19 April 2019 – RSM Students £25

BOOK NOW
Meeting topics

Understanding epigenetics and the role of chemical modifications to DNA in shaping health and disease
Exploring our increasing appreciation of the impact of epigenetics upon a diverse range of biological processes and diseases, from cancer to mental health
Recognising the increasing importance of developing an understanding of epigenetics in clinical practice
Discussing the role of epigenetics in developmental programming and the bridge between nature and nurture

PKU: A Heads Up
2019-05-24 09:30 - 16:00 (Europe/London) | Salford Royal Hospitals NHS Foundation Trust, Stott Lane, Salford, Manchester, M6 8HD, United Kingdom
Leading experts will explore the pathophysiology of PKU, the impact of high phenylalanine levels on the brain of adult patients and the effect of PKU and aging.
Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Without treatment, children develop permanent intellectual disabilities. Seizures, delayed development, behavioural problems and psychiatric disorders are also common.
This day will explore:

Psychological disorders and mental health
Neurological deterioration
Bone health
Premature aging
Nutritional complications

For more information and to book tickets email keeley.crompton@srft.nhs.uk

Rare diseases and the Kidney
2019-05-08 08:45 - 17:00 (Europe/London) | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
Hear expert nephrologists from clinical and academic fields present the latest updates and developments in a variety of rare disease areas.
The meeting will be of relevance to medical student, trainees and consultants as it provides a unique opportunity to keep up to date with latest clinical developments, opportunities and research being conducted, plus MDT and patient partnerships for these conditions.
Rates start from only £20!
Meeting topics:

Expert overview of a number of rare diseases affecting the kidney
Best medical management and potential treatments
Latest research, developments and opportunities for future research using the RADAR network

For more information and to book tickets, visit the RSM Website.

A Talk On Haemophilia
2019-03-18 18:00 - 20:00 (Europe/London) | New Hunt’s House Library, Guy's Campus, London
KCL MedGenSoc presents: A Talk on Haemophilia
We are honoured to be hosting no less than two guest speakers for this event;

KCH Haematology Consultant Dr Catherine Rea, who specialises in clotting disorders
YouTuber Luke Pembroke, who himself suffers from Haemophilia

Refreshments will be served before and after the talk.
A sign up for a certificate of attendance will be available at the end of the lecture.
As always, external staff and students are more than welcome to attend, but purchase a free Eventbrite ticket at least 24 hours before the event
This talk is in association with Medics 4 Rare Diseases and sponsored by the MDU.

Rare Disease Day 2019
2019-02-28
28 February 2019 will be the twelfth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities.

Medics 4 Rare Diseases would love to know how you’re raising awareness on Rare Disease day. Tell us in the comments below or Tweet using @M4RareDiseases and #RareDiseaseDay.

The Unusual Suspects: Rare Diseases In Everyday Medical Care
2019-02-20 12:30 - 18:00 UTC | Royal Society of Medicine, 1 Wimpole Street, London, W1G 0AE, United Kingdom
This is an RSM and Medics 4 Rare Diseases joint event where clinicians at all stages of their training, will be informed about why rare diseases are important to everyday medicine.
Delegates will get the opportunity to explore how generalists can approach patients with rare diseases, and become advocates for them. Hear a real patient experience who has two rare diseases – one of which was diagnosed during an OSCE. And learn about the role genomics plays in everyday medicine.
Topics include:

How rare diseases are relevant to every doctor’s career in medicine
The challenges shared by patients with rare diseases and explore how doctors can help them with these
The role of genomics in everyday medicine
How the work of Medics 4 Rare Diseases and the RSM Genetics Section play a role in rare disease education

3 CPD Points awarded
Key Speaker: Dr Ellen Thomas, Clinical Lead for NHS Genomic Medicine at Genomics England
View the full agenda
Rates
RSM member: £15
Non member: £25
Registration starts at 12.30 and the event begins at 1pm.

Please note: The RSM site is currently down for maintenance and reopens 10th February. Please use the form below to reserve your tickets. To book via the RSM site from 10th February, click here.
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Information Day On Fibromuscular Dysplasia (FMD)
2019-01-19 09:30 - 16:00 UTC
Fibromuscular Dysplasia (FMD) is evolving from a rare disease of renal arteries accounting for a minority of cases of secondary hypertension in young women, to a ‘systemic’ vascular disease which can also affect cervico-cephalic, coronary, and iliac arteries.
This patient information day will aim to explain what FMD is, challenge previous misconceptions about FMD and highlight the latest work being undertaken by registries and research.
Come and hear from expert international guest speakers such as Prof Alexandre Persu (lead for European FMD registry) and Prof David Adlam (UK expert in spontaneous coronary artery dissection (SCAD)), as well as celebrity chef and FMD/ SCAD sufferer, Sally Bee. This day will be of interest to clinicians, patients and carers alike. Any further information, contact tina.chrysochou@srft.nhs.uk or @FmdsUk
Patients with FMD in any arterial bed can be uploaded to FMD RADAR.
Please refer to the Agenda for further information.

Prospects For New Treatments In Rare Diseases
2018-12-03 18:00 - 20:00 UTC
Dr Melita Irving, Consultant Geneticist, President of The Genetics Section of The Royal Society of Medicine and long-term friend of M4RD…is hosting this evening lecture organised by the awesome King’s College Medical Genetics Society. Rare Diseases is an exciting field to be working in these days as new treatments are emerging for previously untreatable conditions. Come along and find out more!
Keep up to date about this event and lots of others organised by KCL Medical Genetics Society on their Facebook page.

Rare Disease Day 2019
2018-12-01 | Guildhall Cambridge, Cambridge, United Kingdom
It’s 2018 and rare diseases are still not being consistently diagnosed, treated and supported effectively.
Free to attend, this 2-day festival will shine a light on some successes and innovative solutions that are striving to address this. RAREfest will raise awareness of rare conditions and bring together all stakeholders in the rare disease community alongside the general public from across Cambridgeshire and beyond.

Rarefest 2018
2018-11-30 09:00 - 2018-12-01 10:00 UTC
It’s 2018 and rare diseases are still not being consistently diagnosed, treated and supported effectively. RAREfest is a first-of-its kind rare disease inspired festival conceived and brought to you by Cambridge Rare Disease Network (CRDN). Free to attend, this 2-day festival will shine a light on some successes and innovative solutions that are striving to address this. RAREfest will raise awareness of rare conditions and bring together all stakeholders in the rare disease community alongside the general public from across Cambridgeshire and beyond. We are proud to be supporting RAREfest. For more information visit the event website. #RAREfest18

Diagnostic Challenges And Clinical Management Of Dna Repair Disorders
2018-11-28 08:30 - 17:00 UTC
Topics Include:

The cellular biology of DNA repair disorders
The clinical presentation of DNA repair disorders
Updated expert guidance on the clinical management of DNA repair disorders
What DNA repair disorders can teach us about the process of ageing
How specialist services for DNA repair disorders are structured and how they were established
What it is like to live with a DNA repair disorder

Find out more here
