Rare Diseases: advances in treatments

On the occasion of World Rare Disease Day, we review some of the recent advances in the development of treatments for these diseases. Read the complete news in

Gene expression networks to investigate the origin of coronary heart disease

Combining clinical data with RNA sequencing data and genetic variation, researchers at Mount Sinai Hospital identify in a recent study, published in Nature Cardiovascular Research, dozens of networks of genes that work in a coordinated way and capture about 60% of molecular risk to develop coronary heart disease. Read the full article in

A genomic test for precision medicine in HER2+ breast cancer

The HER2DX genomic test integrates clinical and genomic information from patients with HER2+ breast cancer to estimate the risk of recurrence and response to treatment. The test, which analyzes the expression of 27 genes in a tumor sample, captures biological processes of interest for cancer progression. The results are published in eBioMedicine. Read the full article in

Jehannine Austin: “Mental illness is not inherited”

As an expert in genetic counseling in psychiatric disorders, Dr. Jehannine Austin helps people with these disorders understand the causes of their illness and shows them that it is not their fault that they have developed a psychiatric disorder. Read the complete news in Genotipia

An epigenetic signature characterizes monozygotic twins

An international study has identified a characteristic epigenetic marking pattern of the somatic cells of monozygotic twins that opens up avenues for research on how twins originate and allows us to detect whether a person is a monozygotic twin. More information at:

CRISPR therapy cures first genetic disorder inside the body

For the first time, researchers appear to have effectively treated a genetic disorder by directly injecting a CRISPR therapy into patients’ bloodstreams — overcoming one of the biggest hurdles to curing diseases with the gene editing technology. Read full (audio) story:

Researchers Find Common Denominator Linking All Cancers

All cancers fall into just two categories, according to new research from scientists at Sinai Health, in findings that could provide a new strategy for treating the most aggressive and untreatable forms of the disease. Read full article (in spanish): National Geographic España

News Summary for Genotipia Genética Médica News

9/6/21 – Frecuencia e impacto de los cambios en el gen MC4R relacionados con la acumulación de grasa en el cuerpo Un estudio dirigido por investigadores de la Universidad de Cambridge señala que los cambios en el gen MC4R asociados a la acumulación de grasa en el cuerpo son más frecuentes de lo que se pensaba y sus efectos comienzan a edades tempranas. Los investigadores…

New evidence of paternal and maternal epigenetic transmission to offspring

Two recent studies have identified some of the environmental factors that influence epigenetic inheritance. The first of them, published in the journal Developmental Cell on March 8, has determined that the paternal diet produces epigenetic changes in sperm proteins that can affect the development of the offspring. The second, published in PNAS on March 23, has found that certain factors, such as maternal age…

International team creates first chimeric human-monkey embryos

Juan Carlos Izpisua Belmonte’s research team, in collaboration with Chinese scientists, has managed to create chimera embryos with human and monkey cells and cultivate them for 19 days. The research, which has received some criticism due to the ethical implications of chimera generation, has demonstrated the potential of human stem cells to contribute to different cell types in chimera embryos and provides new information…