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 visithttps://www.nipd.com/monogenic-disorders
Galanello R. and Origa R. (2010), ‘Beta-thalassemia’, Orphanet Journal of Rare Diseases, 5:11
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.
NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a
broad spectrum of healthcare services to its customers through its expansive portfolio of molecular
and clinical laboratory tests in all disciplines.
At NIPD Genetics we are committed to protecting and respecting our customer’s privacy and personal
information. Personal information or personal data means any information that identifies, relates to,
describes, is capable of being associated with, or could be reasonably linked, directly or indirectly, with
a particular individual, such as name, identification number, location data, an online identifier or to
one or more factors specific to the physical, physiological, genetic, mental, economic, cultural or social
identity of that individual.
NIPD Genetics collects and processes your personal information according to the General Data
Protection Regulation (EU) 2016/679 and the Cypriot law providing for the protection of natural
persons with regards to the processing of personal data and for the free movement of such data (L.
125(I)/2018). The following principles lie at the heart of our approach to handling personal data:
Lawfulness, fairness and transparency – We collect and process personal data in a lawful
transparent manner and clearly communicate to our customers how their personal data will be
Purpose limitation – We only use personal data for the purpose for which they have been
Data minimization – We only collect the data that is absolutely necessary in relation to
purposes for which they are processed.
Accuracy – We take every reasonable step to ensure that personal data collected are
and up to date.
Storage limitation – We do not keep personal data for longer than it is needed. Personal
periodically reviewed and erased if they are not needed or anonymized and stored for scientific
Integrity and confidentiality (security) – Appropriate technical and organizational
in place to ensure that personal data are adequately protected from any unauthorised or illegal
processing and accidental loss, destruction or damage.
Accountability – We, at NIPD Genetics, are committed to compliance with all legal
and promote internal practices to achieve the highest standards for personal data privacy.
NIPD Genetics has appointed a Data Protection Officer (DPO) who is responsible for overseeing and
ensuring that personal information is collected and processed in line with these principles. The contact
details of the Data Protection Officer (DPO) can be found below:
Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus
Telephone number: + 357 22266888
By accessing or using our products or services, or by transmitting information to us by email or other
you do not agree with our policies, procedures and practices as described, you can choose not to
access or use our products or services or not to transmit personal information to us.
We collect and process several types of personal information from and about users of our websites
and of our products and services, including:
Personal and sensitive information: some of our products and services may involve testing
biological samples that we or our customers use to create test reports, genotyping or sequencing
services for research or clinical purposes and the receipt, creation, or analysis of genomic or other
data derived from samples, including through our customer’s use of our software as a service
product. In receiving samples and providing our products and services, we may obtain your name
and surname, date of birth, email address, home address, telephone number, gender, ethnicity
and other health related information.
Computer, device and browsing information: as you interact with our products and services
online, including this website, we may use automatic data collection technologies to collect certain
information about your computer or device, as well as browsing actions and usage patterns. This
data may include your IP address, browser type or version.
The technologies we use for this automatic data collection may include cookies. You can control
cookies by adjusting your cookies settings.
Information about children
If you are under 18 years of age, do not register on our website or provide any information about
yourself to us. We do not provide our products or services directly to children or proactively collect
their personal information. Despite this prohibition, it is possible that we may sometimes be given
information about children while handling samples from our customers in our clinical labs, or through
use of our products and services by our customers and partners. If we become aware that we have
inadvertently collected personal information from children under the age of 18, without parental
consent, we will take the necessary steps to delete it as soon as possible in compliance with applicable
LEGAL BASIS FOR PROCESSING OF YOUR PERSONAL INFORMATION
Your personal information is collected by NIPD Genetics for the following purposes:
To provide you with our products and services, respond to your inquiries or fulfill your requests
and otherwise manage your relationship with us. The legal basis for processing is to meet the
requirements of a contract, to comply with our legal obligations and/or because we have a
legitimate interest in responding to requests for information about our products and services.
To communicate with you about content and product offerings, newsletters and event invitations
which are relevant to your interests and in line with your preferences. The legal basis for processing
is the individual’s explicit consent prior to sending the information and managing individuals
To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
To monitor and record information relating to the use of our products and services, including our
website. The legal basis for processing is our legitimate interest in order to improve our products
and services and our website for individuals.
To provide our products and services, NIPD Genetics may collect, receive and process biological
samples to isolate and sequence DNA. NIPD Genetics may then store resulting genetic information
and use genetic information to provide our products and services. In some cases, NIPD Genetics may
provide interpretations of genetic information on behalf of its customers, including healthcare
providers. This is only done pursuant to a written contract or a Sample Information Form with a
patient’s informed consent and is subject to applicable legal and ethical safeguards.
This sensitive information described above is collected by NIPD Genetics for the following purposes:
To provide support and maintenance services to customers who use our products and services –
The legal basis for processing is to meet the requirements of a contract.
To provide genotyping and sequencing services and analysis for our customers, including
healthcare providers. The legal basis of this processing is to meet the requirements of a contract
or as allowed in the Sample Information Form with a patient’s informed consent.
To conduct genotyping and sequencing services and analysis for quality control, process and
product development and improvements, and optimization in our labs to reflect quality
improvements and advances in our technology. The legal basis for processing is the patient’s
informed consent given through the Sample Information Form.
Transfer of Data
Your information, including personal data, may be transferred to - and maintained on - computers
located outside 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.
agreement to that transfer.
NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and
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 General Data Protection Regulation and will not sell or trade your
NIPD Genetics may disclose your personal information in the good faith that such action is necessary:
To comply with a legal obligation
To protect and defend the rights or property of NIPD Genetics
To prevent or investigate possible wrongdoing in connection with our products and services
To protect against legal liability
COOKIES AND OTHER TRACKING TECHNOLOGIES
Cookies are files with small amount of data which may include an anonymous unique identifiers.
Cookies are sent to your browser when you visit a website and stored on your device. Tracking
technologies used on the website are beacons, tags and scripts, to collect and track information and
to improve and analyze our websites.
certain information. This includes information about the computer or device you are using, such as
Internet protocol (IP) address, information about the browser type or version, the pages of our
website that you visit, the time and date of your visit, the time spent on those pages, unique device
identifiers and other diagnostic data.
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 websites.
Examples of Cookies we may use:
Session Cookies. We use Session Cookies to operate our websites.
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 websites
Keyword cookies. To understand how visitors discover the websites.
We may use third-party Service Providers to monitor and analyze the use of our websites.
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
(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
SECURITY OF DATA
We are committed to protecting the security of the information we collect, and we take reasonable
physical, technical, and administrative safeguards such as data anonymization and encryption to help
protect personal information from unauthorized or inappropriate access or use. It is your
responsibility to protect the confidentiality of your passwords, and any other access features
associated with your access or use of the website or our products and services, as well as to adhere
PERSONAL DATA RETENTION
We may retain collected information even after you remove it from the website, our Services, or our
Products, to comply with applicable law, to resolve disputes, to enforce any rights in connection with
Use, or an applicable contract between us and you or your organization. How long we retain specific
personal information varies depending on the purpose for its use and we may delete or retain your
personal information in accordance with applicable law.
We may employ third party companies and individuals to facilitate, maintain or operate our websites
(“Service Providers”), to provide the websites on our behalf, to perform service-related services or to
assist us in analyzing how our websites are 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.
LINKS TO OTHER SITES
Our websites may contain links to other sites that are not operated by us. If you click on a third-party
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.
We will let you know via email and/or a prominent notice on our website, prior to the change
are effective when they are posted on this page.
YOUR LEGAL RIGHTS
NIPD Genetics ensures that it can respond immediately to requests that you make for the exercise of
your legal rights in accordance with data protection laws. These rights are as follows:
The right to withdraw consent at any time – in cases where processing is based on your
The right of access – at any given time you have the right to know what information about you
we hold and receive information about the processing activities we perform
The right to rectify – you have the right to correct, amend and complete personal data that is
The right to erasure (“right to be forgotten”) – you can request that your personal information
The right to object – you can object at any time to our processing of your personal information
The right to restriction of processing – this applies in the event:
You dispute the accuracy of your personal information and until it is verified
You oppose to the deletion of personal data and ask instead to delete the use of it
The personal information is no longer necessary for us
You object to the processing and we are considering whether our legitimate grounds
for processing prevail over the reasons you oppose to the processing
The right to data portability – at any given time you have the right to receive the personal
information we hold about you in a structured, commonly used and machine-readable format
(pdf, word etc.). You also have the right to request that these data are transferred to another
service in a safe and secure way
You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal
We encourage you to contact us, should you wish to practice any of your legal rights or you have any