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Published on April 10, 2020
A new study from investigators at Brigham and Women’s Hospital and Harvard Medical School sheds new light on the risk of developing long-term diseases and overall human lifespan. The researchers found that the combined effects of rare, damaging mutations present at birth have a negative impact on healthspan and longevity.…
Published on February 7, 2020
Personalized medicine has taken a big step forward with the launch of non-profit n-Lorem Foundation, which will create patient-tailored antisense oligonucleotide (ASO) therapeutics for people with rare diseases at no cost to the patients. This comes at the same time as custom gene therapies for rare disease patients are being…
Published on January 23, 2020
The largest ever exome sequencing study on autism spectrum disorder (ASD) was recently published in Cell, and it has revealed more than 100 genes are implicated in the disorder. This information is the first step in better understanding the neurobiology behind the phenotype and developing treatments for this disorder. Dr.…
Published on January 15, 2020
New targets for a wide range of conditions have been unveiled by a large, multicenter genomic study led by researchers at Children’s Hospital of Philadelphia (CHOP). The team compared the sequence data of more than 100,000 people of European ancestry and found copy number variant (CNV) associations in four major…
Published on January 6, 2020
A reanalysis of samples from three major US sequencing labs showed that whole exome testing sometimes didn’t adequately analyze more than a quarter of genes, and significant variation exists between labs. The reanalysis, which was done by researchers at University of Texas Southwestern Medical Center, showed that, on average, the…
Published on December 26, 2019
While our understanding of the genetics and molecular mechanisms underlying autism spectrum disorder (ASD) continue to improve, having better diagnostic tools that can accurately asses the chances the disease will arise in offspring is critical information many would-be parents crave. Many researchers believe both genetics and the environment play a…
Published on December 24, 2019
Geisinger Health announced last week that its precision medicine project MyCode reached the milestone enrollment of 250,000 participants in Pennsylvania and New Jersey. To date, the project has both DNA sequence and health data on 145,000 of those participants and has returned medically actionable results to nearly 1,500 participants. “Geisinger…
Published on August 29, 2019
A new partnership was just announced between YourDNA and DNA ID to connect rare disease patients to genetic researchers in a safe, secure, and more efficient way. The two companies aim to help patients with rare genetic diseases form communities where they can find support and the chance to further…
Published on August 21, 2019
The results of a study headed by researchers at the University of Chicago suggest that there may be a significant link between exposure to environmental pollution and the prevalence of neuropsychiatric disorders. Analyses of large population data sets from the United States and Denmark linked poor air quality with increased…
Published on July 15, 2019
David FitzPatrick’s typical patient is a toddler with global developmental delay who is small for her age, has epilepsy, and cannot speak or understand speech. Often there is no family history of similar symptoms and the parents will report no problems with the pregnancy and birth. The child will have…
Published on March 30, 2019
David Bentley trained in medical genetics at Guy’s Hospital in London before spending 12 years at the Sanger Centre (now the Wellcome Trust Sanger Institute). There, as Head of Human Genetics and working with director Sir John Sulston and colleagues, he helped set up the British arm of the Human…
Published on September 10, 2018
Techniques such as high-throughput genome sequencing have allowed scientists to identify hundreds of genetic variants that are linked with increased risk of different neurodevelopmental or neuropsychological disorders, such epilepsy, schizophrenia, intellectual disability, and autism spectrum disorder (ASD). However, two people with the same known risk variant won’t necessarily present with…
Published on August 13, 2018
Scientists at University of Utah (U of U) Health report that they have developed high-tech tools to uncover the genetic cause of early infantile epileptic encephalopathy (EIEE). Their study (“Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy”) appears online in Nature Genomic Medicine. “Early infantile epileptic encephalopathy (EIEE)…
Published on July 2, 2018
Researchers say genes located in a large chromosomal aberration associated with autism interact with each other to modulate the variable symptoms of the disease. A Penn State–led team tested the role of these genes individually and in tandem by reducing the amount of the genes expressed in a fruit fly…
Published on May 24, 2018
A low-carbohydrate, high-fat ketogenic diet (KD) can help to treat refractory epilepsy, a condition that affects more than a third of epileptic patients who don’t respond to existing anticonvulsive drugs. What scientists haven’t understood is how this kind of diet can help to prevent seizures. A team at the University…