““FAST, LOW-COST DEVICE FAST, LOW-COST DEVICE USES THE CLOUD TO SPEED USES THE CLOUD TO SPEED

UP DIAGNOSTIC TESTING UP DIAGNOSTIC TESTING FOR HIV AND MORE” AND FOR HIV AND MORE” AND

“NOVEL TEST “NOVEL TEST STREAMLINES TESTING STREAMLINES TESTING

FOR HUNTINGTON FOR HUNTINGTON DISEASE”DISEASE”

MANUELA JIMÉNEZ MANUELA JIMÉNEZ OBANDO OBANDO

MEDICINE STUDENT UPB 2013MEDICINE STUDENT UPB 2013

There are many There are many techniques that are used techniques that are used in molecular biology, for in molecular biology, for

example, PCR example, PCR (polymerase chain (polymerase chain reaction) or ELISA.reaction) or ELISA.

PCR pretends to PCR pretends to amplify DNA o RNA, amplify DNA o RNA,

using enzymes in vitro, using enzymes in vitro, and is useful in the and is useful in the

detection of genetical detection of genetical disease like disease like Huntington.Huntington.

ELISA is a low-cost ELISA is a low-cost immunoassay technique that immunoassay technique that

finding antibodies or finding antibodies or antigens, is really useful in antigens, is really useful in the detection of different the detection of different

diseases.diseases.

““FAST LOW-COST DEVICE FAST LOW-COST DEVICE USES THE CLOUD TO SPPED USES THE CLOUD TO SPPED

UP DIAGNOSTIC TESTING UP DIAGNOSTIC TESTING FOR HIV AND MORE”FOR HIV AND MORE”Clinical Chemistry, January 18,2013

““FAST LOW-COST DEVICE USES THE CLOUD TO FAST LOW-COST DEVICE USES THE CLOUD TO SPPED UP DIAGNOSTIC TESTING FOR HIV AND SPPED UP DIAGNOSTIC TESTING FOR HIV AND

MORE”MORE”

Samuel K. Sia developed an advanced technique

that he proposed to provide a disgnostic

service with a lab-quality, to people in remote areas of the world , who can´t go

to a hospital facility.

It consists of a handheld mobile device that only by picking a finger and getting

a sample, can give the results in just 15 minutes

(faster than ELISA).

This test allows a real-time

synchronization of diagnostic results

with patient records in the cloud.

““FAST LOW-COST DEVICE USES THE CLOUD TO FAST LOW-COST DEVICE USES THE CLOUD TO SPPED UP DIAGNOSTIC TESTING FOR HIV AND SPPED UP DIAGNOSTIC TESTING FOR HIV AND

MORE”MORE”The possibility to The possibility to give quick results give quick results

allows real-time data allows real-time data upload, resulting in upload, resulting in

easier easier epidemiological epidemiological

analysis; this is one analysis; this is one of the contributions of the contributions

to the medical world: to the medical world: the prevention of the prevention of

some diseases (HIV some diseases (HIV for example).for example).

““FAST LOW-COST DEVICE USES THE CLOUD TO FAST LOW-COST DEVICE USES THE CLOUD TO SPPED UP DIAGNOSTIC TESTING FOR HIV AND SPPED UP DIAGNOSTIC TESTING FOR HIV AND

MORE”MORE”

Sia has now other bigger objetives with his

“lab on a chip”:“To implement

an antenatal care panel for

diagnosing HIV and sexually transmitted diseases for

pregnant women in Rwanda”

““FAST LOW-COST DEVICE USES THE CLOUD TO FAST LOW-COST DEVICE USES THE CLOUD TO SPPED UP DIAGNOSTIC TESTING FOR HIV AND SPPED UP DIAGNOSTIC TESTING FOR HIV AND

MORE”MORE”

OBSERVATION:OBSERVATION:

I think what Sia is doing is a great contribution to the development of medical technologies, because it brings the possibility of getting a diagnosis to people who can´t go to a health facility or who live in undeveloped countries. On the

other side, this technology facilitates the information to

epidemiological studies. 

““NOVEL TEST NOVEL TEST STREAMLINES TESTING STREAMLINES TESTING

FOR HUNTINGTON FOR HUNTINGTON DISEASE”DISEASE”

The Journal of Molecular The Journal of Molecular DiagnosticsDiagnostics, Volume 15, , Volume 15,

Issue 2 (March 2013) Issue 2 (March 2013) published by Elsevier.published by Elsevier.

““NOVEL TEST STREAMLINES TESTING FOR NOVEL TEST STREAMLINES TESTING FOR HUNTINGTON DISEASE”HUNTINGTON DISEASE”

HUNTINGTON HUNTINGTON DISEASEDISEASE

This disease is a This disease is a neurodegenerative disorder neurodegenerative disorder

(oringinated by the Huntingtina, (oringinated by the Huntingtina, a protein encoded by repeted a protein encoded by repeted

sequences of “CAG”)sequences of “CAG”)

This protein accumulation affects This protein accumulation affects specially the brain and the specially the brain and the

expression of symptoms is directly expression of symptoms is directly related with the number of related with the number of

repetitions.repetitions.

Symptoms are often related with Symptoms are often related with problems in mood or cognition, problems in mood or cognition,

diminished muscle coordination, with diminished muscle coordination, with consequences which are evident on consequences which are evident on

walking, speaking and other daily life walking, speaking and other daily life activities. This people also has changes activities. This people also has changes

in personality and thinking skills.in personality and thinking skills.Neurons with Nuclear inclusions

““NOVEL TEST STREAMLINES TESTING FOR NOVEL TEST STREAMLINES TESTING FOR HUNTINGTON DISEASE”HUNTINGTON DISEASE”

A new test : TP PCRA new test : TP PCR

Generates accurate results by counting the repetitions of the sequence and doesn´t

need additional tests

The study used 246 samples that were previously analyzed with other

methods (with possitive and negative results for HD), and the

samples results coincided.

““NOVEL TEST STREAMLINES TESTING FOR NOVEL TEST STREAMLINES TESTING FOR HUNTINGTON DISEASE”HUNTINGTON DISEASE”

The TP PCR based its analysis in the fact than 39 or more repetitions of “CAG” determinates the risk of developing HD.

Even 101 repetitions could be accurately sized with TP PCR.

Also samples that were really difficult to

analyze with other methods, and were

considered a challenging, had easy and accurate results with this new test.

Another advantage of TP PCR is the ability to

identify the homozygous normal samples and avoid

further tests.However, in children

further tests are recomended.

““NOVEL TEST STREAMLINES TESTING FOR NOVEL TEST STREAMLINES TESTING FOR HUNTINGTON DISEASE”HUNTINGTON DISEASE”

OBSERVATION:OBSERVATION:I think that using TP PCR it is

possible to reduce the number of false negative, that would be really

useful for people who has HD, because it is a grave disease that

affect in a big way the life of patients who suffer from it; they can develop diminished muscle coordination that is evident on

walking and speaking during the daily life. This people also have

changes in personality and thinking skills.

 

MEDICAL UTILITYMEDICAL UTILITY

The easier, and more effective diagnosis of a lot of diseases

like Huntington.

Reduce the number of false negatives in some

diseases.

MEDICAL UTILITYMEDICAL UTILITY

…And gives a faster way to prevent and

start a treatment in positive

cases.

MEDICAL UTILITYMEDICAL UTILITY

MEDICAL UTILITYMEDICAL UTILITY

Gives the possibility of a Gives the possibility of a diagnosis and control tests to diagnosis and control tests to places in the world without places in the world without

access to specialized access to specialized laboratories. And do it with a low-laboratories. And do it with a low-

cost and fast way.cost and fast way.

BIBLIOGRAFÍABIBLIOGRAFÍA Martínez,Lina; Vargas,Natalia; Toro,Eduardo;

Pamplona,Ana; Quevedo,Esteban.“Biología molecular”.Ed7. 2012. Pp.121-127

Mohamed Jama, Alison Millson, Christine E. Miller, Elaine Lyon. Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease. The Journal of Molecular Diagnostics, 2013; DOI: 10.1016/j.jmoldx.2012.09.005

 C. D. Chin, Y. K. Cheung, T. Laksanasopin, M. M. Modena, S. Y. Chin, A. A. Sridhara, D. Steinmiller, V. Linder, J. Mushingantahe, G. Umviligihozo, W. El-Sadr, S. K. Sia. Mobile Device for Disease Diagnosis and Data Tracking in Resource-Limited Settings. Clinical Chemistry, 2013; DOI: 10.1373/clinchem.2012.199596