Rare diseases in clinical practice

Rare diseases in clinical practice

Rare diseases in clinical practice

In clinical practice you will meet patients who have unusual symptoms or combinations of symptoms. Some patients are of an age, sex or ethnicity that is unusual for a particular disease. Others may have a family history where the pattern of people with the condition does not fit with what would be expected.

These could be clues that that the unusual presentation is due to an underlying ‘rare disease’, which often requires special consideration for diagnosis and clinical management.

What is meant by a 'rare disease'?

The definition used by the UK's Department of Health (Nov 2013) is that a rare disease:

• is a life-threatening or chronically debilitating disease;
• affects 1/2,000 or less of the general population; and
• requires special, combined efforts to enable patients to be treated effectively.

Most rare diseases have a genetic basis, and many genetic disorders come into the category of rare diseases. In recognition of the importance to healthcare in recognising and diagnosing rare diseases for the specialist clinical management that may be required, the Department of Health published in November 2013 'The UK Strategy for Rare Diseases’.

Why are rare diseases important?

There are between 5,000-8,000 different rare diseases (source: Department of Health). Collectively, rare disease is common, affecting 1 in 17 of the population at some point in their life. In other words, it will affect 3 million people currently living in the UK.

Eighty per cent of rare diseases have a known genetic origin. Fifty per cent of new cases are in children; a significant proportion of whom may die young.

The presence of a rare disease does not exclude another commoner condition, but each can complicate the management of the other.

Increasingly, for any given rare disorder, there is availability in the UK for specific:

• diagnostic clinical expertise;
• diagnostic testing; and
• clinical management expertise.

Rare Diseases & Genomics

Rare Disease Day at NIH is on February 28, 2014

Rare Disease Day, February 28, 2014 video

Dr. Stephen Groft talks about last days at NIH with Global Genes, by Ilana Jacqueline,  Feb 17

Thousands of rare genetic diseases collectively affect millions of people in the United States. Find out from the NIH Genetic Testing Registry what are the genetic conditions and genetic tests associated with rare genetic diseases



Identification of genes for childhood heritable diseases.

Kym M. Boycott et al, Annual Review of Medicine Vol. 65: 19-31 (2014)

Free diagnostic exome sequencing for US rare disease patients, by Dr Philippa Brice, PHG Foundation, Feb 10

Rare diseases in clinical practice, from the National Genetics and Genomics Resource Center, UK

Rare Disease Day at NIH

On February 28, 2014, the National Institutes of Health (NIH) will celebrate the seventh annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; other Federal Government agencies; the National Organization for Rare Disorders; and the Genetic Alliance. Rare Disease Day at NIH will be held in the Masur Auditorium (Building 10) from 8:30 a.m. to 5:00 p.m. on Friday. Attendance is free and open to the public.

In addition to the various scheduled talks (see agenda), there will be Clinical Center Tours and posters and exhibits from many groups relevant to the rare diseases research community displayed. In association with the Global Genes Project, we again encourage all attendees to wear their favorite pair of jeans.

About Rare Disease Day

Rare Disease Day was established to raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients' lives. The focus of Rare Disease Day 2010 was 'Patients and Researchers, Partners for Life!' and is aligned with ORDR's philosophy that researchers need to work closely with patients and patient advocacy groups to maximize chances for success. This philosophy has been put into practice in our very successful Rare Diseases Clinical Research Network.

To add the ORDR RDD widget to your website, copy and paste the following code:

<a href="http://rarediseases.info.nih.gov/news-and-events/pages/28/rare-disease-day" target="_blank"><img src="http://www.rarediseases.info.nih.gov/files/general_text/2014_RDD_widget.png" alt="Rare Disease Day - February 28, 2014" style="border-width: 0px; border-style: solid;" /></a>

There are about 7000 rare diseases identified in the United States. About 80 percent of rare diseases are genetic in origin and it is estimated that about half of all rare diseases affect children. Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient. People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of support services for the patient and family. The goals remain for rare disease patients to obtain the highest attainable standard of health and to be provided the resources required to overcome common obstacles in their lives.

By highlighting these issues, the NIH Office of Rare Diseases Research hopes to:

• Raise awareness of rare diseases
• Strengthen the voice of patients and patient advocacy groups
• Give hope and information to patients
• Bring stakeholders closer together
• Coordinate policy actions within the United States and with other countries
• Inspire continued growth of the awareness of rare diseases
• Emphasize rare disease research and the search for new therapeutics
• Get equality in access to care and treatment

The first Rare Disease Day sponsored by EURORDIS was held in Europe on February 29, 2008. February 29th was chosen since it is a rare day and it is symbolic of rare diseases. 2009 was the first time that Rare Disease Day was observed in the U.S. In addition to 17 European countries participating in Rare Disease Day 2009, the United States was joined by Argentina, Australia, Canada, China, Colombia, and Taiwan in celebrating the first global Rare Disease Day. 

See Also: 

Rare Disease Day, Rare Disease Day Downloads,  Rare Disease Day USA,

Rare Disease Day USA Downloads

Past ORDR Rare Disease Day Events:  2013;  2012;  2011;  2010;  2009

National Organization for Rare Disorders (NORD)The National Organization for Rare Disorders (NORD) serves as the sponsor of Rare Disease Day  in the United States, working with EURORDIS and other national sponsors around the world.  NORD hosts the official Rare Disease Day US website, where it provides resources such as a press kit and suggested activities for organizations, schools or universities, companies, and individuals.  For Rare Disease Day 2014, NORD is helping organize awareness events within states across the U.S.

The Global Genes Project

Global Genes Project is a leading rare and genetic disease patient advocacy organization led by Team RARE (Rare advocacy, Awareness, Research, Education) and promotes the needs of the rare and genetic disease community under a unifying symbol of hope – the Blue Denim Genes RibbonTM.

What began as a grassroots movement in 2009 to use the simple concept of "jeans and genes" to increase awareness for rare and genetic disorders has grown to over 400 global organizations. Their mission is centered on increasing rare disease awareness, public and physician education, building community through social media and supporting research initiatives to find treatments and cures for rare and genetic diseases.

Global Genes organizes a Wear That You CareTM awareness campaign on World Rare Disease Day where supporters wear the Genes RibbonTM and their favorite pair of jeans to show support for people fighting rare and genetic diseases. They encourage patients and family advocates to share their stories through social media via creative photo campaigns and blog articles. In 2013, the organization will launch a Twitter campaign with the hashtags #careaboutrare and #wearthatyoucare.

For more information on how to receive Blue Denim Genes RibbonsTM and how to participate in the Wear That You CareTM campaign, visit http://globalgenes.org/world-rare-disease-day/.