Cambridge Rare Disease Network - Events 1

Evaluating the potential of drug repurposing for rare diseases and Covid-19

With a global pandemic in full swing, there is an essential worldwide research effort to identify potential treatments, cures, and vaccines for Covid-19. At this time of international crisis, a large number of companies and researchers are turning to drug repurposing as a potential solution – but what is repurposing and why is it such an attractive route for drug development at this time?
For many years, UK charity Findacure has been discussing and promoting drug repurposing as an essential tool for the development of new treatments for rare diseases. In this webinar, Findacure CEO Rick Thompson will outline the basics of this route to drug development, explain why it is such an appealing approach in tackling both covid-19 and rare conditions, and highlight how the rare disease community has been spearheading advances in drug repurposing over the last few years.

1. Click and join at the specified time and date:

Note: This link should not be shared with others; it is unique to you.
2. Choose one of the following audio options:
When the Webinar begins, you will be connected to audio using your computer’s microphone and speakers (VoIP). A headset is recommended.
— OR —
If you prefer to use your phone, you must select “Use Telephone” after joining the webinar and call in using the numbers below.
United Kingdom: +44 330 221 9922
Access Code: 855-613-047
Audio PIN: Shown after joining the webinar


Cambridge Rare Disease Network - Events 2

As leaders in the rare community, we recognize that community members are worried. Do you need strategies for coping, staying healthy and reducing anxiety during this uncertain period?

Please join NORD for a special webinar featuring our invited guests for guidance on living with a rare disease and maintaining your physical and mental health in the time of COVID-19.

This webinar is perfect for patients, caregivers, advocates, students and the public.

Register for the FREE Webinar
Tomorrow, March 31
2:00pm – 3:00pm EDT

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Dr. Marshall Summar, Chief of Genetics and Metabolism, Director, Rare Disease Institute, Children’s National Hospital

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Dr. Bernhard Wiedermann, Attending in Infectious Diseases, Children’s National Hospital, Professor of Pediatrics, The George Washington University School of Medicine and Health Sciences

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Dr. Albert Freedman, Counseling Psychologist, Freedman Counseling Associates

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Katie Kowalski, Senior Manager of Education Programs, National Organization for Rare Disorders

Living Rare, Living Stronger 2020 will be rockin’!

NORD is headed to Cleveland, Ohio for the 2020 Living Rare, Living Stronger Patient and Family Forum. What’s even more exciting–the Rare Impact Awards, included in this event, will be hosted at the iconic Rock & Roll Hall of Fame!

Check back often as more information is being released daily.

Living Rare, Living Stronger 2020

Event Overview

Living Rare, Living Stronger is an annual patient-focused conference held in a different location each year. Its agenda provides patients and families with practical tools for living their best lives with rare diseases and physicians and medical students with insights to take back to their practices and studies.

Four distinctive program tracks will present workshops geared towards:

  • Newly diagnosed patients
  • Long-term patients
  • Caregivers
  • Medical professionals and students

In addition to the sessions above, the Living Rare Forum will include a family welcome reception, a dedicated wellness room, children’s programming, and an exhibit hall to add to the excitement of this unique event!

On Friday, May 15, in conjunction with the Forum, NORD will host its annual Rare Impact Awards, bringing attendees together to celebrate those making extraordinary contributions to the lives of people living with rare diseases. Join us at the Rock & Roll Hall of Fame for a night of celebration and recognition.

For tickets head here 

Join us on Wednesday 18th March in Seminar Room 1 of the Clinical School for an educational talk on Behçet’s Syndrome.

Behçet’s Disease or Behçet’s Syndrome is a rare inflammatory disorder that affects the blood vessels and tissues. This complex and lifelong condition is poorly understood. This informative evening aims to improve awareness of this potentially debilitating disorder among healthcare professionals and medical students.

Come along to hear our speakers Tony Thornburn OBE (Chair of Behçet’s UK) and Suzanne Morris (Behçet’s patient) discuss the details of Behçet’s Syndrome from a professional and patient perspective, as well as challenges faced by a rare disease charity.

The event will be completely FREE with all healthcare professionals and medical students welcome. Refreshments and snacks will be provided and certificates of attendance given.

XLP Symposium 2020

The XLP Research Trust aims to hold a research symposium every two years. The first meeting was in April 2010 and now planning our 2020 symposium immediately after the ESID 2020 conference.

The symposiums look to bring together medical researchers and clinicians from across the world to present their latest research findings on XLP1 and XIAP and to give time to network together. We’re always had great support from the team at UCL Great Ormond Street Institute of Child Health and the Jeffrey Modell Foundation WIN Program in helping make these important events come together.

We’ve found these events to be a brilliant way of building an informal research community and helping to learn from each other.

Xlp Symposium 2020 2

XLP Symposium 2020

The 6th XLP Symposium will be held on Monday 19th October 2020 in central London. This will be immediately after the ESID conference held in Birmingham.

To attend this important event – please purchase a ticket through our friends at Eventbrite.

We’re now inviting researchers and clinicians to submit proposals for papers for the symposium, please download the 1 page Microsoft Word document from.

Please ensure that you return this document by Friday 26th June 2020.

Download: 2020 Speakers Form.

The event will again be held near to Liverpool Street Station in Central London, at SAS UK’s office.

Download: Venue.

Download: Hotels.

This will be our 6th biennial symposium for researchers and clinicians working on XLP1 and XIAP.

Beat SCAD Conference 2020

Learn more about Spontaneous Coronary Artery Dissection (SCAD), an underdiagnosed heart condition that affects otherwise fit, healthy people without warning.
SCAD experts will provide updates on the UK research, links with associated conditions such as Fibromuscular Dysplasia (FMD) and more.
Network with SCAD patients, families, friends and healthcare professionals.

For more information 

Topics we are considering for the 2020 event, in addition to the latest research developments, include:

  • Latest information about the connection between SCAD and FMD
  • The impact of SCAD on mental wellbeing – options for self-help and more
  • Improving the quality of Cardiac Rehab and looking beyond rehab towards exercising with confidence in the long term
  • The real costs of SCAD research
  • Separate sessions for those interested in:
    • P-SCAD (Pregnancy SCAD) outcomes and the options for women wanting to get pregnant post SCAD
    • How male SCAD is different

Date: Saturday 6 June 2020

Time: 9.00am to 5.30pm – Registration 9.00-10.00am.

Venue: The Alan Walters Building, University of Birmingham

Price per delegate: £35 (includes lunch)

Why attend BEAT SCAD 2020?

Anybody affected by SCAD (Spontaneous Coronary Artery Dissection) is welcome to attend.

In 2018 we had almost 120 delegates, 68 of whom were SCAD survivors. We hope to make our 2020 event the biggest ever gathering of SCAD survivors in the UK and very much hope that you will want to come along. Partners, family members and friends are also very welcome to attend.

Learn about SCAD

Our aim is to answer your questions, educate, inform and inspire you with all that life after SCAD has to offer.

Confirmed speakers include:

Dr David Adlam, who is leading the Leicester Biomedical Research Centre’s SCAD research programme 

Dr Abtehale Al-Hussaini (Dr Abi) who worked on the research project and now runs a SCAD Clinic at the Chelsea and Westminster Hospital in London.

Dr Alice Wood, Clinical Research Fellow on the SCAD research programme.

The UK SCAD experts have seen more SCAD patients than anyone else in the UK. They will be giving an update on the research so far and answering your questions about SCAD, medication, FMD, pregnancy and more.

Meet patients, families and friends

Meeting other people who have ‘been there’ and ‘get it’ is invaluable for most rare disease patients, no matter how long ago they had their event. Family and friends also need support and the conference is an ideal opportunity to meet people who understand something about what those affected by SCAD are living with.

There will be plenty of opportunities to talk to other SCAD patients, families and friends during the coffee and lunch breaks and this year we will look to introduce different networking activities to make it as easy as possible for you to talk with others.

Get involved on the day

  • Our ‘Inspiration Board’ returns – why not bring photos of you doing something amazing after SCAD to share with the conference?
  • Submit your burning questions in advance for Dr Adlam, Dr Al-Hussaini and Dr Wood to answer on the day – look out for an email from us requesting your input
  • Take part in Q&A sessions during the day
  • Tell Beat SCAD how we can help YOU


More details to follow, but in the meantime, please click here to complete the booking form. We look forward to seeing you in June!

Parking FREE during the conference.

Free car parking is available at the North East Car Park. The postcode for this car park is: B15 2SA

Alan Walters Building is R29 on the attached campus map and North East Car park is between G9 and G10 building.

Map of University of Birmingham Edgbaston campus

Sponsorship and exhibiting

We are offering sponsorship opportunities and exhibition space to both commercial and not-for-profit organisations wishing to take advantage of the Beat SCAD Conference as a way to support the charity and engage with participants and healthcare professionals. Details of the opportunities can be found here.  

If you or your friends/family are interested in supporting Beat SCAD on 6 June, please email

Real-World Evidence 2020

RWE 2020

Do you work in the healthcare industry, and need to learn more about how regulatory agencies and HTAs will work with real-word evidence (RWE) for rare diseases? Are you a payer trying to understand the implications of high-cost, innovative treatments? Are you a researcher looking to apply RWE in your work? A patient/patient advocate keen to learn more about the potential real-world data offers to rare disease patients? Or are you a consultant, research organisation or service provider looking to connect with RWE and HEOR experts in industry and academia?

RWE – derived from real-world patient data that are routinely collected from a variety of sources (electronic health records, patient surveys, claims databases, digital devices, and many more) – has the potential to completely alter how decisions are made to regulate, grant access to and pay for healthcare. And nowhere is the potential greater than in the research, diagnosis and treatment of rare diseases, where randomised controlled trials are highly challenging, if not impossible, to conduct, and innovative, high-cost and potentially curative therapies have the potential to turn the standard regulatory, access and reimbursement paradigms upside down.

In response to the need to convene all healthcare stakeholders – pharma, biotech & medical device companies, HTAs and regulators, payers, academics, patient advocacy groups and service providers – we have launched Real-World Evidence 2020: Rare Diseases and Innovative Therapies, in partnership with the Journal of Comparative Effectiveness Research and The Evidence Base®. Over two days, we’ll convene all members of the community who, together, can make the use of RWE in rare diseases and innovative therapies a reality.

As well as providing a platform for the presentation and discussion of ideas, offering the opportunity to connect with other stakeholders is core to the mission of Real-World Evidence 2020: Rare Diseases and Innovative Therapies. Communication is key to progressing this field, so over the two days there will be plenty of opportunities to network, meet new contacts and – of course – enjoy a drink at the evening reception!

The ethos of the event is to facilitate meaningful conversation and then, crucially, support the translation of discussion into action. In order to further drive future conversation and tangible outcomes beyond the meeting, the Journal of Comparative Effectiveness Research will be publishing a post-event White Paper, summarising the important conversations that take place, and setting the agenda for further action and themes for future meetings. We hope that the White Paper will disseminate the conversations beyond the meeting attendees to the wider community, and form the basis for even broader conversations on using RWE to support the improved management of rare diseases and use of innovative therapies.

Who will be there?

  • Pharma, biotech & medical device companies
  • Regulators and HTAs
  • Payers
  • Academics and researchers in RWE, big data and HEOR
  • Patient advocacy groups
  • Market access specialists
  • Consultants
  • Medical communications agencies
  • HEOR service providers from across the UK and Europe

What will the event look like?

Our mission is to convene a community of collaboration and best practice around the practical application of RWE in rare diseases and innovative therapies, and we have created an exciting conference format, with two zones:

  • The Listen & Learn Zone comprises presentations and panels, with ample time for questions and discussion, enabling participants to learn about the latest developments.
  • The Conversation & Collaboration Zone creates a space for roundtables and interactive conversations, creating an environment to share, build relationships and collaborate on future projects. The Conversation & Collaboration Zone also showcases authors from a range of Future Science Group publications, including the Journal of Comparative Effectiveness Research.

What will be discussed?

  • Understanding how RWE can impact on rare diseases
  • Coordination and collaboration across Europe for rare disease research
  • Understanding the regulatory framework for RWE
  • The development of RWE to support drug coverage and formulary decisions
  • Value assessment in rare diseases and innovative therapies
  • Using RWE to inform clinical trial design in rare diseases
  • Achieving transparency in the generation and use of RWE
  • Big healthcare data and genomics
  • Rare disease registries
  • Using mobile devices to gather patient health data

For more information and tickets 


Earlybird pricing (ends 7 February 2020) Standard pricing (ends 1 April 2020)
Standard registration £1200 £1500
Pharma/biotech registration £800 £1000
Academic/public sector registration £300 £400

Got a question? Contact the RWE 2020 team via

Orphan Drugs & Rare Diseases Global Congress 2020

On behalf of the operating committee, we are pleased to announce that the Global Congress on Rare Diseases and Orphan Drugs will be held during August 19-20, 2020 in Boston, USA. Rare Diseases Congress 2020 provides a head interdisciplinary stage for analysts to introduce the most recent research discoveries and portray developing advances, and bearings in uncommon illnesses and vagrant medications issues. The event attempts to contribute to presenting novel research results in all aspects of Rare Diseases and Orphan Drugs.

Rare Diseases Congress 2020 provides a platform for scientists, professors, specialists, researchers, students and practitioners to present their latest research results, ideas, developments, and applications in all areas of rare diseases and orphan drugs. The meeting will unite driving scholastic researchers, scientists, Industrial agents Healthcare Professionals and researchers in the space of enthusiasm from around the globe.

The conference aim is to provide a scientific forum for all international prestige scholars across the globe and enable the interactive exchange of knowledge.

Read More

Faster Analysis of Neurodevelopmental Disorders with Congenica Neuro

Around 300 million people worldwide are thought to have epilepsy or a neurodevelopmental disorder. Many of these disorders are now known to have an underlying genetic origin, with a molecular cause being found in approximately 40% of cases.
Genetic heterogeneity is high in these cases, with over exome or genome approach combined with the use of virtual gene panels therefore maximizes diagnostic yield for these children, but can represent an analytical and interpretive challenge for even the most experienced physician or scientist.

Join the Faster Analysis of Neurodevelopmental Disorders with Congenica Neuro webinar

In this webinar, State Registered Clinical Scientist Louisa Ive will demonstrate the use of Congenica Neuro as a way to streamline the molecular diagnosis of children with neurodevelopmental disorders and epilepsy, whilst optimizing diagnostic yield. She will share how improved workflows lead to increased throughput and confidence, as well as improved patient outcomes. At this event you will learn: – The current diagnostic challenges faced in treating children with neurodevelopmental disorders and/or epilepsy – How to maximize workflow efficiency and diagnostic yield using advanced clinical decision support software in conjunction with integrated expert gene curation – The real-life benefits of using a streamlined, standardised approach
Register here


Cambridge Rare Disease Network - Events 7

Louisa Ive

Clinical Scientist, Congenica

Louisa Ive, MSc HCPC, received her undergraduate education at University College London, London and completed her Clinical Scientist training at St George’s University Hospital, London. She is a practicing Clinical Scientist, certified by the Health & Care Professions Council and currently working within the Clinical team at Congenica. Her clinical expertise within genetics is broad, however, she has a subspecialty interest in pre-implantation and prenatal diagnosis. Her MSc thesis explored extended next generation sequencing testing in colorectal cancer patients. Louisa is a former Chair of the London Healthcare Science Trainee Network and is a current member of the British Society of Genetic Medicine.


  1. Our World in Data.
  2. World Health Organization (2019).
  3. Shashi V, et al. Genet Med. 2014 Feb;16(2):176-82.
  4. The Development Disorder Genotype – Phenotype Database (DDG2P).

National Cancer Research Institute: Dragons Den 2020

Programme stream(s): Early detection / diagnosis and prognosis , Living with and beyond cancer , Prevention , Treatment

Dragon’s Den Programme session type(s): NCRI session

Chair: Emma Kinloch, NCRI Consumer Forum Lead
The Dragons’ Den session is an opportunity for researchers to meet with a group of patients and carers, experienced with cancer research. They will offer their advice and input to any aspect of your research, in an informal setting.
This session is led by members of the NCRI Consumer Forum – the friendliest and most helpful Dragons you will ever meet.

To host a table, please fill-in the application form before Monday 23 September:

Form for completion

For more information please contact our Research Involvement Officer, Liane Hazell at

The Dragons’ den offers practical on-the-spot help and advice for researchers seeking patients and carers’ input to their study proposal, at any stage of the research process. The Dragons will provide advice on the design, approval, funding and delivery of research studies, as well as adding quality to the research itself, and disseminating the results.

This session will:

1. Offer researchers input from patients and carers on their study proposal, or their views on ideas being formulated.

2. Allow researchers to gain experience in presenting their research idea to a lay audience and facilitate discussions about their research.

3. Offer researchers the opportunity to engage and involve patients and carers more effectively and productively in future, and offer patients and carers the opportunity to support research more effectively and productively.

Salivary Gland Cancer: Oxford Gathering – 2.5.20

We will be meeting on Saturday May 2nd 2020 between 10am and around 4.30pm.

10-10.30 Coffee & arrival
10.30-12.30 Patient/supporter stories and discussion: a chance to get to know one another and our experiences.
12.30-13.30 Lunch provided by Salivary Gland Cancer UK
13.30-15.30 Research updates and clinician speakers.
15.30-16.30 Coffee, wrap up, next steps, chance to chat.

Please email if you would like to attend.

For more info on the event 

For more info about the organisation 

To facilitate patient and supporter input into our strategy and research focus, we are holding a focus day in Manchester. Taking into account the patient view allows for better trials, clearer direction and in turn facilitates enhanced patient engagement and outcomes.

Spaces are limited. Please email if you are interested in attending.

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