Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Biochip for the diagnosis of Familial Hypercholesterolemia

10.02.2004


Hypercholesterolemia patients now have a new method of diagnosis that enables them to know for sure if they are suffering from Familial Hypercholesteloremia (FH) or not. The new tool, known as Lipochip, is the first biochip for the diagnosis of Familial Hypercholesteloremia (a pathology that affects some 100,000 persons in Spain).



The majority of those currently suffering from FH are not diagnosed as such. It is calculated that less than 30% of them have received a correct diagnosis with the majority receiving inadequate or inappropriate treatment. Moreover, when the illness is diagnosed, it is often too late as the patient a premature cardiovascular event which may be life-threatening.

Lipochip enables the early diagnosis of a large number of patients in a short space of time. In this way, cardiovascular illnesses can be prevented, these pathologies appearing in more than half of the patients affected by FH before 55 years of age. Amongst those between 20 and 39 years of age who suffer from Familial Hypercholesterolemia, mortality due to a coronary pathology is 100 times greater than amongst those without FH.


The importance of early diagnosis of FH with Lipochip lies in this high incidence of level of premature cardiovascular illnesses amongst FH patients. Without the correct diagnosis and treatment, many patients die between 35 and 65 years of age, and seven out of ten will suffer myocardiac attack before their sixtieth birthday. However, with early diagnosis and treatment, the survival rate and quality of life of patients improves, as these coronary events are greatly diminished. This also reduces hospital costs as there are less cardiovascular events amongst patients being suitably diagnosed and treated.

Early detection

Another important aspect, that can only be covered by the use of Lipochip, is the detection of the illness amongst young people who do not have symptoms but who, not being diagnosed early or receiving appropriate treatment, are subject to having an unexpected cardiovascular events. Up to now, the clinical diagnosis of FH has been based on typical clinical signs, on analytical data and on family history of the patient.

Thanks to the use of Lipochip, the illness can be diagnosed with complete reliability, i.e. knowing if the patient is a carrier of one of the mutations responsible for FH, using a small blood sample and in a matter of just a few days. Even in those patients that have a definite clinical diagnosis, the detection of the mutation may have prognostic value, given that some studies back up the hypothesis that the type of mutation may also have an influence on the response to pharmaceutical drugs, and so with the type of mutation determining the treatment.

Lipochip enables the carrying out of a genetic diagnosis of Familial Hypercholesterolemia, and considered to be of the greatest reliability. In this way, the appearance of false positives and false negatives are eliminated, which have arisen up to now using the diagnostic table of MedPed (the international programme of the World Health Organisation). The WHO, by means of this programme, recommended the development of techniques capable of detecting mutations in the LDL receptor gene in order to provide a reliable and early diagnosis of Familial Hypercholesterolemia. The mutations in this gene are the cause FH.

The principle of Lipochip is the capacity of DNA to recognise its complementary sequence.
Basically, it consists of a chemically modified glass surface onto which a large number of genic sequences complementary to each of the mutations have been deposited. To this surface the patient’s sample, marked with a fluorescent molecule, is added. Subsequent illumination with laser enables the identification of which of the points the patient’s blood sample has bonded to with greatest intensity. In this way specific discrimination between a normal patient and one suffering from Familial Hypercholesterolemia is established.

The novelty of this diagnostic tool is that it enables the analysis of thousands of sequences in a differentiated, rapid and reliable manner, unlike the traditional techniques of the independent analysis of each sequence in question, which can take months.

Lipochip has been designed and developed by the Progrenika-Medplant technological support group, based on knowledge provided by Familial Hypercholesterolemia Foundation and the Department of Biochemistry at the University of Zaragoza.


Contact :
Laureano Simón
Progenika S.A.
lsimon@progenika.com
(+34) 944064525

Garazi Andonegi | Basque research
Further information:
http://www.basqueresearch.com/berria_irakurri.asp?Gelaxka=1_1&Berri_Kod=408&hizk=I
http://www.progenika.com

More articles from Health and Medicine:

nachricht Usher syndrome: Gene therapy restores hearing and balance
25.09.2017 | Institut Pasteur

nachricht MRI contrast agent locates and distinguishes aggressive from slow-growing breast cancer
25.09.2017 | Case Western Reserve University

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: LaserTAB: More efficient and precise contacts thanks to human-robot collaboration

At the productronica trade fair in Munich this November, the Fraunhofer Institute for Laser Technology ILT will be presenting Laser-Based Tape-Automated Bonding, LaserTAB for short. The experts from Aachen will be demonstrating how new battery cells and power electronics can be micro-welded more efficiently and precisely than ever before thanks to new optics and robot support.

Fraunhofer ILT from Aachen relies on a clever combination of robotics and a laser scanner with new optics as well as process monitoring, which it has developed...

Im Focus: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Fraunhofer ISE Pushes World Record for Multicrystalline Silicon Solar Cells to 22.3 Percent

25.09.2017 | Power and Electrical Engineering

Usher syndrome: Gene therapy restores hearing and balance

25.09.2017 | Health and Medicine

An international team of physicists a coherent amplification effect in laser excited dielectrics

25.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>