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Researchers use machine-learning approach to predict autism risk genes

Princeton University and Simons Foundation researchers have developed a machine-learning approach that for the first time analyzes the entire human genome to predict which genes may cause autism spectrum disorder, raising the number of genes that could be linked to the disorder from 65 to 2,500.

1 Aug 2016

Study finds mutations in three new genes can cause rare syndromic CHD disorders

Researchers at The University of Nottingham have been involved in one of the largest international studies of congenital heart disease, which has discovered gene mutations linked to three new rare congenital heart disorders (CHD).

1 Aug 2016

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Natera, Inc., a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, applauds the new guidelines just released by the American College of Medical Genetics and Genomics, supporting the use of non-invasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21 (Down syndrome) during pregnancy.

From Natera 30 Jul 2016

Study clarifies role of KLF12 in CRC tumor growth

Results of preclinical studies by MUSC investigators reported in the July 2016 issue of PLOS One, demonstrate for the first time that the transcription factor KLF12 promotes CRC cell growth, in part, by activating EGR1. Furthermore, data demonstrate that KLF12 and EGR1 levels synergistically correlate with poor CRC prognoses.

29 Jul 2016

Sophia Genetics reveals world’s most advanced collective artificial intelligence platform

Sophia Genetics, the global leader in Data-Driven Medicine, today unveiled SOPHiA, the world’s most advanced collective artificial intelligence (AI) for Data-Driven Medicine.

29 Jul 2016

Scientists make a big leap on mini-brain research

Scientists in Singapore have made a big leap on research on the 'mini-brain'. These advanced mini versions of the human midbrain will help researchers develop treatments and conduct other studies into Parkinson's Disease and ageing-related brain diseases.

29 Jul 2016

Study identifies two proteins crucial for self-renewal of skin stem cells

Our skin renews, heals wounds, and regenerates the hair that covers it thanks to a small group of stem cells. These cells continually produce new ones, which appear on the skin surface after a few days.

29 Jul 2016

Study finds risk markers for Parkinson's disease hiding in unusual spots

Clues that point toward new risk mechanisms for developing Parkinson's disease are hiding in some unusual spots, according to a study published today in Scientific Reports

28 Jul 2016

Penn study sheds new light on biology of fatty liver disease

A new appreciation for the interplay between two cell nucleus proteins that lead both intertwined and separate lives is helping researchers better understand fatty liver disease, according to a new study by researchers at the Perelman School of Medicine at the University of Pennsylvania.

27 Jul 2016

New insights into RNA-protein interactions may lead to cure for heart disease

Research led by The Australian National University has uncovered new insights into how the human genome gets through the daily grind with the help of RNA-binding proteins, in a discovery which could ultimately lead to a cure for heart disease.

27 Jul 2016

Researchers find genetic variability in frozen vials of cells purchased from same cell bank

In a surprise finding, researchers working with breast cancer cells purchased at the same time from the same cell bank discovered that the cells responded differently to chemicals, even though the researchers had not detected any difference when they tested them for authenticity at the time of purchase.

26 Jul 2016

Yale researchers develop new system to simultaneously edit multiple genes

A Yale research team has designed a system to modify, or edit, multiple genes in the genome simultaneously, while also minimizing unintended effects.

26 Jul 2016

Researchers discover three new risk genes for ALS

Published today in Nature Genetics, the study reveals three new risk genes for ALS and one of these - C21orf2 - increases an individual's risk of developing the dis-ease by 65 per cent.

26 Jul 2016

Large study of familial ALS finds new gene variant present in 3% of all patients with disease

Variations in a gene with multiple functions in neurons are present in approximately 3 percent of all cases of ALS in North American and European populations, both sporadic and familial, making it one of the most common genetic causes of the disease, according to a paper published in Nature Genetics.

26 Jul 2016