Monthly Archives: March 2015

Autism and genetics: Towards a Reliable Diagnosis of Autism

The genetics of autism is a promising area of clinical study, with an important projection in the health sector.

Today it is still difficult to determine the exact cause of autism. It is a disease that is more prevalent in boys than girls, increasing
the number of children diagnosed during the last two decades.

Now, the genetics of autism has greatly improved the diagnosis of this disease. An investigation with twins in the United Kingdom
suggests that genes are important in the onset of autism.

This discovery does not imply that genes are a direct cause of this disruption, but that they have greater impact on the disease to other factors.

In fact, the study reflects an estimated heritability that would be around 56 and 95%.

The genetics of autism: a complex study

Autism and genetics: Towards a Reliable Diagnosis of Autism

Hundreds of genes are involved in disease, but environmental factors are also fundamental to the development of autism
(even before the birth).

The genetics of this disruption is a really complex study in which many researchers are participating. Some scientific research suggests
studying the combination of genetics with the environmental factors that can alter the expression of these genes.

Currently, the research conducted by Dr. Francesca Happe demonstrates an interesting fact. While many parents and families are
concerned by certain factors such as pollution, chemicals, etc. this study suggests that the impact of the environmental factor is less than genetics.

Then, why today has it increased the number of people affected by autism? In principle, it might be only a social perception.

The increase in diagnosed children would be related to the increase of awareness of the disease. People who used to be considered with
learning problems, would have become autistic due to the massive improvements and refinements in the diagnosis.

However, while the genetics of autism is still a complex study area, DNA assays for the diagnosis of patients (microarrays and mass sequencing),
allow evaluating the disease at an early stage.

Genética

Bioarray at 16th World Congress on Human Reproduction

18-21 March 2015, Berlin, Germany

Bioarray takes an active part in the 16th World Congress on Human Reproduction congress, where we will have a booth (#14) for discussion with colleagues and the human reproduction
community plus we contributed to a dedicated symposium on Reproduction Genetics.

We keep on presenting our pioneering DGP using NGS, as the result of our own technological development including comprehensive validation
with nearly 100 embryos in IVF. We invite you to attend our webinars, where we show the basics of the technique and the advantages that NGS
offers for PGS.

Bioarray contributes to the organization of the parallel symposium Genetic Technologies for Human Reproduction, including six lectures on latest
results and approaches of preconceptional, preimplantational and prenatal diagnosis.

Bioarray’s scientific team will present the following oral presentations and posters:

  • NF2 detection in a PGD cycle using NGS as a confirmatory technique (Dr. Luis Alcaraz, oral presentation).
  • Preimplantation Genetic Screening by means of next-generation sequencing: a 24-chromosome aneuploidy detection of 100 embryos (Dra.
    Vanessa Penacho, oral presentation).
  • Invasive and non invasive prenatal diagnosis: future and perspectives (Dr. Luis Alcaraz, oral presentation).
  • Detection of balanced translocations in Preimplantation Genetic Screening by means of next-generation sequencing: a 24-chromosome
    aneuploidy detection of 100 embryos (Dr. Luis Alcaraz, poster).
  • Case report: NF1 detection in a combined PGS/PGD cycle (Dra. Vanessa Penacho, poster).

Bioarray at 16th World Congress on Human Reproduction