NORD (National Organization for Rare Disorders), is a 501(c)(3) organization dedicated to individuals with rare diseases and the organizations that serve them. With over 300 patient organization members, NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. Their database for reports on more than 1,200 diseases is but one of their many member resources.
The NR2F1 Foundation has recently been accepted as a Platinum NORD Member in their organization, and you can find our Profile on their website. On October 17-18, 2022, NORD is having a Rare Diseases + Orphan Products Breakthrough Summit in Washington, DC. Carlie Monnier, President of NR2F1 Foundation, will be attending the Summit this year as a new member. This is an exciting time in the advancement of genetic testing, research, and development of treatments for rare diseases.
Ongoing Global Conferences to Raise Awareness About Rare and Ultra-Rare Conditions
The global rare disease genetic testing market report has projected that by 2030, the market for genetic testing for rare diseases will reach $2.52 billion. One of the main forces driving the sector is the need for effective regulatory policies to fight rare diseases. Additionally, the existence of a significant number of databases that provide information and data about associated disorders has contributed to the growth in revenue for the past few years.
It is expected that as conferences continue to increase knowledge of rare and ultra-rare illnesses, the implementation of diagnostic products and services will be accelerated. Many countries take part in a variety of initiatives to increase awareness about this topic.
CORD services for patients in Canada
In addition, the Canadian Organization for Rare Illnesses (CORD) is focused on providing a system for the treatment and care of individuals with disorders by consolidating their healthcare policies. CORD is working to enhance R&D, treatment, diagnosis, and service accessibility for all patients in Canada with a rare disorder by collaborating withy researchers, other governments, clinicians, and the diagnostic sector.
The National Institutes of Health (NIH) reports that more than 7,000 rare diseases are known to affect about 30 million Americans. As awareness increases, it is estimated that many more people will undergo disease testing in the next few years. The U.S. observes Rare Disease Day on February 28 to raise awareness and encourage advancements in this field.
Rare diseases clinical research
Moreover, it is anticipated that the establishment of the Rare Diseases Clinical Research Network (RDCRN), a network of 23 active conglomerates or groups of researchers supported by the NIH and made up of researchers, patients, and healthcare professionals who are concentrating on the diagnosis and treatment of rare disorders, will have a positive effect on the industry.
Almost half of all children who have learning disabilities and about 60% of those with a congenital condition never have the true cause of their disability identified, so they never receive a definitive diagnosis. Another thing that has hampered growth of the industry is a lack of knowledge regarding genetic testing and diagnosis among patients and their families.
In 2021 North America dominated this industry because of the large number of rare diseases, an increasing number of registries, significant investments in diagnosis, and the many R&D centers in the area. Now the fastest CAGR is expected to be seen in Asia Pacific as a result of the significant number of companies that are concentrating on management of disease.
Carlie is the President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.