Rare Disease Day

Rare disease day was first celebrated in 2008, on February 29 – a rare day. Since then, it is celebrated each year on the last day of February. It’s a day to spread awareness about rare diseases, and receive support from the public that is invaluable in bridging health and social care. Although individual diseases may be rare and the number of people affected by each disease may be few, the total number of patients affected by rare diseases globally is estimated to be more than 350 million – more than cancer and AIDS combined1.

Worldwide, there are over 7,000 rare diseases1. Contrary to infectious diseases or birth defects, most rare diseases are not tracked. Consequently, the exact number of rare diseases is difficult to pinpoint, and an official ‘rare list’ recording the frequency order of each disease doesn’t exist. In Europe, a disease is termed rare if it occurs in less than 1 in 2,000 people. In the US, where rare diseases are also called ‘orphan diseases’ due to the drug companies’ lack of interest in developing treatments for them, a disease is called ‘rare’ if fewer than 200,000 Americans are affected by it at any time. Accordingly, there is a very broad frequency range of rare diseases; Trisomy 18 is considered rare, with a 1 in 5,000 incidence2, along with Progeria that has a 1 in 4 to 8 million reported incidence3. Epidemiological prevalence of rare diseases is also interesting. B-Thalassemia has a global incidence of 1 in 100,000, yet its incidence in the Mediterranean population is 1 in 10,0004,5. Likewise, Tay-Sachs is very rare in the general population, with a 1 in 320,0004 prevalence, yet it affects 1 in 3,200 Ashkenazi-Jews6.

Diagnosis of rare diseases is challenging due to the diversity and variability of symptoms among diseases and patients. On average, it takes 8 years for an accurate diagnosis to be made1. Management of symptoms and treatment choices are limited for most rare diseases, with 95% of them not having an FDA-approved treatment1. Medically and socially, there is lack of information on the rarest diseases, which can be challenging. A great part can be mitigated by support groups and online platforms of patients and family members that have a personal experience with the condition, and can offer advice and knowledge on management, clinical trials and experts in the field.

Rare diseases can manifest from infections or environmental causes, or they are presently classified as ‘rare’ due to healthcare advances – smallpox and polio are now rare diseases due to vaccinations. 80% of rare diseases have genetic origins, caused by single genes, chromosomal or multifactorial reasons1.

Fanconi anemia (FA) is a rare, hereditary disease that occurs relatively equally in all ethnic groups and sexes3, with a frequency rate of 1 in 160,0002. Manifesting in childhood – where more than half of the diagnoses are made7 – symptoms vary from physical abnormalities, like small head and skin pigmentation, to bone marrow failure. The genes responsible for causing FA are estimated to be more than 18. As these genes are responsible for repairing DNA damage, faulty changes (mutations) in these prevent them from performing their normal actions, and lead to accumulated DNA damage. In turn, this disrupts the normal functions of the bone marrow, upsets the production of platelets, white and red blood cells, and ultimately raise the patients’ risk of excessive bleeding, infections, and blood cancer3,7.

Gracile syndrome is a rare, inherited metabolic disease. Its name stands for the disease symptoms and characteristics – Growth Retardation; Aminoaciduria – the increased amount of amino acids in the urine; Cholestasis – the decreased flow of bile that causes indigestion; Iron overload; Lactacidosis – the build-up of lactate that affects the liver and kidneys; and Early death. It is almost exclusively found in Finland, occurring in 1 in 50,000 individuals, with the prevalence in the general population being less than 1 in 1,000,0004. Affected newborns are smaller than average, fail to thrive and exhibit serious liver and kidney problems within the early months of life. Gracile syndrome follows an autosomal recessive pattern, so both parents need to be carriers for the baby to be affected. Unfortunately, there is no cure for Gracile Syndrome, and most babies die by 4 months of age3. Early diagnosis – which can be achieved by NIPT – is invaluable for managing clinical care and symptomatic treatment, and improving quality of life. The mutation that causes Gracile Syndrome prevents the gene from converting energy from food sources into a form that cells can use, so patients are depleted of energy3.

Maple Syrup Urine Disease (MSUD) takes its name from the sweet odor of affected infants’ urine. It is a rare, autosomal recessive disorder occurring in less than 1 in 185,000 individuals globally2. Symptoms vary depending on disease severity, and can appear from the first days of life. They include failure to thrive, drowsiness, progressive lethargy and when left untreated, brain damage; eventually leading to coma and respiratory failure within the first month of life4. This time-sensitive disorder can be detected prenatally via NIPT, ensuring prompt clinical management of symptoms that may be life-saving, with episodes of metabolic crises occurring when triggered. MSUD results after mutations in three genes, involved in breaking down toxic byproducts, prevent them from performing their actions. This results in excess amount of acid in the body that disturbs the body’s metabolic processes.

The 350 million people affected by rare diseases are patients that deserve proper diagnosis, care and treatment. The public, decision-makers and the healthcare industry can drive action that will benefit patients. On a political level, the ‘Orphan Drug Act’ US Congress enforced in 1983 provided financial incentive to pharmaceutical companies to encourage them to research into and develop drugs for rare diseases. In the science field, international research, linking experts and combining knowledge and funds across the world can have a positive impact in patients’ lives.

To check for the rare diseases that VERAgene can detect, please visit https://www.nipd.com/monogenic-disorders

References:

  1. Global Genes, ‘Rare Facts’ (2015) https://globalgenes.org/rare-facts/
  2. Genetics Home Reference (2019) https://ghr.nlm.nih.gov/
  3. Genetic and Rare Diseases Information Center, https://rarediseases.info.nih.gov/
  4. Orphanet (2019), https://www.orpha.net/consor/cgi-bin/index.php?lng=EN
  5. Galanello R. and Origa R. (2010), ‘Beta-thalassemia’, Orphanet Journal of Rare Diseases, 5:11
  6. Rozenberg R. and Pereira Lda V. (2001). ‘The frequency of Tay-Sachs disease causing mutations in the Brazilian-Jewish population justifies a carrier screening program’. Sao Paulo Medical Journal, 119(4): 146-149.
  7. National Organization of Rare Disorders (2019) https://rarediseases.org/rare-diseases


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NIPD Genetics - Privacy Policy

General Statement

This Privacy Policy applies only to www.nipd.com and its subdomains (hereafter collectively referred to as “Sites") that link to this policy. NIPD Genetics Sites are owned by NIPD Genetics Public Company Ltd and are operated by NIPD Genetics Public Company Ltd and on occasion by a third-party that is responsible for the technical maintenance of the Sites.

If, you do not agree with this Privacy Policy, please do not access or use any of NIPD Genetics Sites.

NIPD Genetics values your interest in NIPD Genetics, its products and its services. NIPD Genetics takes the protection of your data seriously.

Personal data for purposes of this Privacy Policy, is any information by which you can be individually identified, including, but not limited to, your name, profession, address, e-mail address, and telephone number.

You may contact NIPD Genetics Public Company Ltd at
NIPD Genetics Public Company Ltd
Neas Engomis 31
Engomi, Nicosia
2409, Cyprus

NIPD Genetics Data Protection Officer can be reached at dpo@nipd.com

This Privacy Policy applies only to the Sites as defined above and which are operated by NIPD Genetics. The NIPD Genetics Privacy Policy seeks to inform the users of its Sites of the following:

NIPD Genetics will not use or share your information with anyone, except as described in this Privacy Policy. This Privacy Policy does not apply to any information we might collect by other digital and offline means and or from other digital and offline sources. The use of information collected through our Sites shall be limited to the purposes under this Privacy Policy and our Terms of Use to customers.

This page informs you of our policies regarding the collection, use, and disclosure of personal data when you use our Sites and the choices you have associated with that data.

We use your data to provide and improve the Sites. By using the Sites, you agree to the collection and use of information in accordance with this policy. Unless otherwise defined in this Privacy Policy, terms used in this Privacy Policy have the same meanings as in our Terms and Conditions, accessible from www.nipd.com

Type of personal information NIPD Genetics may collect through its Sites

Information Collection And Use

We collect several different types of information for various purposes to provide and improve our Sites and services to you.

Personal Data

While using NIPD Genetics Sites, you may be asked to provide NIPD Genetics certain personally identifiable information that can be used to contact or identify you ("Personal Information"). Personal Information that might be used to identify you includes, but is not limited to:

If you send us a query via our Contact us form, your email address, the content and any follow up emails are retained indefinitely.

Cookies and Usage Data

Usage Data

We may also collect information how the Sites are accessed and used ("Usage Data"). This Usage Data may include information such as your computer's Internet Protocol address (e.g. IP address), browser type, browser version, the pages of our Sites that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

Tracking & Cookies Data

We use cookies and similar tracking technologies to track the activity on our Sites and hold certain information.

Cookies are files with small amount of data which may include an anonymous unique identifier. Cookies are sent to your browser from a website and stored on your device. Tracking technologies also used are beacons, tags, and scripts to collect and track information and to improve and analyze our Sites.

You can instruct your browser to refuse all cookies or to indicate when a cookie is being sent. However, if you do not accept cookies, you may not be able to use some portions of our Sites.

Examples of Cookies we use:

Session Cookies. We use Session Cookies to operate our Sites.

Preference Cookies. We use Preference Cookies to remember your preferences and various settings.

Security Cookies. We use Security Cookies for security purposes.

Visitor behavior cookies. To understand how visitors use and navigate the Sites

Keyword cookies. To understand how visitors discover the Sites.

Use of Data

www.nipd.com uses the collected data for various purposes:

Transfer of Data

Your information, including personal data, may be transferred to — and maintained on — computers located outside of your province, country or other governmental jurisdiction where the data protection laws may differ than those from your jurisdiction.

If you are located outside Cyprus and choose to provide information to us, please note that we transfer the data, including personal data, to Cyprus and process it there.

Your consent to this Privacy Policy followed by your submission of such information represents your agreement to that transfer.

www.nipd.com will take all reasonable steps necessary to ensure that your data is treated securely and in accordance with this Privacy Policy and no transfer of your personal data will take place to an organization or a country unless there are adequate controls in place including the security of your data and other personal information.

Disclosure of Data

NIPD Genetics complies with the protection of personal data regulation and will not sale or trade your personal data.

NIPD Genetics may disclose your personal data in the good faith belief that such action is necessary to:

Security of Data

The security of your data is important to us, but remember that no method of transmission over the Internet, or method of electronic storage is 100% secure. While we strive to use commercially acceptable means to protect your Personal Data, we cannot guarantee its absolute security.

Service Providers

We may employ third party companies and individuals to facilitate, maintain or operate our Sites ("Service Providers"), to provide the SItes on our behalf, to perform service-related services or to assist us in analyzing how our Sites is used.

These third parties have access to your Personal Data only to perform these tasks on our behalf and are obligated not to disclose or use it for any other purpose.

Analytics

We may use third-party Service Providers to monitor and analyze the use of our Sites.

Google Analytics

Google Analytics is a web analytics service offered by Google that tracks and reports website traffic. Google uses the data collected to track and monitor the use of our Service. This data is shared with other Google services. Google may use the collected data to contextualize and personalize the ads of its own advertising network.

You can opt-out of having made your activity on the Service available to Google Analytics by installing the Google Analytics opt-out browser add-on. The add-on prevents the Google Analytics JavaScript (ga.js, analytics.js, and dc.js) from sharing information with Google Analytics about visits activity.

For more information on the privacy practices of Google, please visit the Google Privacy & Terms web page

Access to your personal data, correction, deletion, and Opting Out

You have the right to review, update or delete any of your personal data by sending a request at NIPD Genetics Personal Data Officer pdo@nipd.com

Links to Other Sites

Our Sites may contain links to other sites that are not operated by us. If you click on a third-party link, you will be directed to that third party's site. We strongly advise you to review the Privacy Policy of every site you visit.

We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.

Children's Privacy

Our Service does not address anyone under the age of 18 ("Children").

We do not knowingly collect personally identifiable information from anyone under the age of 18. If you are a parent or guardian and you are aware that your Children has provided us with Personal Data, please contact us. If we become aware that we have collected Personal Data from children without verification of parental consent, we take steps to remove that information from our servers.

Changes to This Privacy Policy

We may update our Privacy Policy from time to time. We will notify you of any changes by posting the new Privacy Policy on this page.

We will let you know via email and/or a prominent notice on our Service, prior to the change becoming effective and update the "effective date" at the top of this Privacy Policy.

You are advised to review this Privacy Policy periodically for any changes. Changes to this Privacy Policy are effective when they are posted on this page.

Contact Us

If you have any questions about this Privacy Policy, please contact pdo@nipd.com

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