Broad Institute of MIT and Harvard’s Post

We were at the Prague Gerontological Days 2023 with our NGS technology! An interesting lecture on the topic of Analysis of candidate genes for Alzheimer’s disease and other neurodegenerative diseases using the new generation sequencing method was prepared by Lucie Kulistakova and presented by Jitka Novotná, who thus published the first results of our activities as part of the ADDIT-CE* project at this event. The goal of our research is to identify genes, or specific genetic variants, which can play a key role in the development of neurodegenerative diseases. The results of the analysis of candidate genes using the NGS technology can provide new insight into the genetic causes and risk factors for Alzheimer’s disease and other neurodegenerative diseases. *ADDIT-CE: Alzheimer’s Disease Diagnostics Innovation and Translation to Clinical Practice in Central Europe, 101087124, https://lnkd.in/ekD7c75K. #BioVendorGroup #dementia #alzheimersdisease #alzheimer #innovation #alzheimersresearch

We outline the difficulties that a sizable Mendelian genomics program, encompassing 4577 molecularly defined families, encountered. We categorize difficulties into groups covering the phenotypes (such as novel allelic disorders), pedigree structure (such as imprinting disorders that pass for autosomal recessive phenotypes), positional mapping (such as double recombination events that invalidate candidate autozygous intervals), genes (such as novel gene-disease assertions), and variants (such as complex compound inheritance, and we measure the relative contributions of each group. Our findings can help guide present and upcoming efforts to increase the global diagnostic yield for Mendelian disorders. Overall, we calculate a 34.3% chance of running across at least one of these difficulties. Importantly, our study demonstrates that a 71% increase in the diagnostic yield may be anticipated by focusing just on non-sequencing-based issues. It is envisaged that by exchanging this experience, undiagnosed disease programs around the world would produce better results. Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families https://lnkd.in/eujZC4qK

Somatic mosaisicm is becoming more studied and accepted as an influencer of biology and disease. Traditional methods of single cell analysis have not provided the precision or genomic coverage to truly understand the drivers of disease. Join this webinar to hear more about a transformational technology and how it is being used to help researchers elevate their discovery and translational findings in key complex diseases. #oncologyresearch #neurologicaldisorders #cellandgenetherapy #singlecellanalysis

First tandem repeat expansions genetic reference maps A research team has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers. The Tandem Genome Aggregation Database enables researchers to study how these mutations – called tandem repeat expansions – are connected to diseases, to better understand health disparities and to improve clinical diagnostics. The study, published online in the journal Cell, introduces the TR-gnomAD, which addresses a critical gap in current biobank genome sequencing efforts. Although TR expansions constitute about 6 percent of our genome and substantially contribute to complex congenial conditions, scientific understanding of them remains limited. #ScienceMission #sciencenewshighlights https://lnkd.in/gtb92dR3

🔬 Today, we join the global community in marking International Rare Disease Day! There are currently 300 million people living with one or more of the 7,000 rare diseases identified worldwide, and over 70% of these diseases are genetic. As a CDMO, we are pleased to make our FlashRNA® vector (formerly LentiFlash®) available to deliver genome-editing tools (CRISPR, Base editing, Prime editing) into target cells.  These revolutionary tools make it possible to precisely target the genetic mutations responsible for rare diseases, opening up new prospects for the development of effective personalised therapies. Our FlashRNA® is used in particular for the IRIS partner project, a cutting-edge initiative in the field of cell therapy.  This project, led by Professor Marina Cavazzana, aims to treat monogenic diseases of the haematopoietic system. In IPEX, FlashRNA® is used to repair the defective FoxP3 gene in target cells. 🔍 To find out more about the IRIS project and our commitment to scientific innovation: https://lnkd.in/gYQcpfXU On this day, we express our gratitude to our committed partners and the courageous patients who are taking part in the clinical trials. Together, we are advancing our mission to provide revolutionary treatments for rare diseases, offering hope to those who need it most. AP-HP, Assistance Publique - Hôpitaux de Paris Institut Imagine Inserm PHENOMIN Research infrastructure in Biology and Health @CERBM #InternationalRareDiseaseDay #RareDiseases #maladiesrares #IRISProject #CRISPR

First tandem repeat expansions genetic reference maps A research team has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers. The Tandem Genome Aggregation Database enables researchers to study how these mutations – called tandem repeat expansions – are connected to diseases, to better understand health disparities and to improve clinical diagnostics. The study, published online in the journal Cell, introduces the TR-gnomAD, which addresses a critical gap in current biobank genome sequencing efforts. Although TR expansions constitute about 6 percent of our genome and substantially contribute to complex congenial conditions, scientific understanding of them remains limited. #ScienceMission #sciencenewshighlights https://lnkd.in/ganhC32F

New research uncovers biological drivers of heart disease risk . Over the past 15 years, researchers have identified hundreds of regions in the human genome associated with heart attack risk. However, researchers lack efficient ways to explore how these genetic variants are molecularly connected to cardiovascular disease, limiting efforts to develop therapeutics. To streamline analysis of hundreds of genetic variants associated with coronary artery disease (CAD), a team of researchers combined multiple sequencing and experimental techniques to map the relationship between known CAD variants and the biological pathways they impact. #ScienceDailynews #InnovativeResearch #NextGenScience #ExploringFrontiers

Newborn screening refers to testing newborns for rare genetic or metabolic conditions. The introduction of genome sequencing into newborn screening has the potential to greatly improve health outcomes for newborns with genetic conditions, most of which constitute rare diseases. As rare diseases are uncommon, they are frequently missed during routine newborn screening. Next generation sequencing screening involves using gene panels, whole exome sequencing, or whole genome sequencing to analyze the baby’s genetic information enabling clinicians to identify these disorders early on. Early detection and treatment of this illness may greatly enhance the health of young infants, preventing certain disabilities and possibly even death. Sources: Pitt JJ. Newborn screening. Clin Biochem Rev. 2010 May;31(2):57-68. PMID: 20498829; PMCID: PMC2874432. Jiang S, Wang H, Gu Y. Genome Sequencing for Newborn Screening—An Effective Approach for Tackling Rare Diseases. JAMA Netw Open. 2023;6(9):e2331141. doi:10.1001/jamanetworkopen.2023.31141 #Newbornscreening #Genomics #Nextgenerationsequencing Illumina Oxford Nanopore Technologies CPGR

Developing a #SingleCell #MultiOmics Approach to Investigate Genetic Properties of #MitochondrialDiseases New research from the North American #MitochondrialDisease Consortium (NAMDC): https://lnkd.in/eHPkJSji Mitochondrial diseases are multisystemic, genetic disorders involving dysfunction of the #mitochondria (specialized cell structures that produce energy), which affects cellular metabolism. Diverse mitochondrial DNA (#mtDNA) mutations are associated with diverse phenotypes (observable characteristics), suggesting that metabolic vulnerabilities may be specific to organ and cell types. In this study, researchers developed a multi-omics approach to investigate the properties of mitochondrial genetics. In single cells derived from six patients with mitochondrial diseases, the team quantified deletions in mtDNA alongside cell state features. Results reveal the dynamics of pathogenic (disease-causing) mtDNA heteroplasmy (multiple variants within a cell) in individual blood and immune cells. Authors note that these findings demonstrate the power of single-cell multi-omics to reveal fundamental properties of mitochondrial genetics.

In light of #DNAday, commemorating the discovery of DNA’s double helix in 1953 and the completion of the Human Genome Project in 2003, read below for our most recent content which marks the breakthroughs made by analysing DNA:   🧬Uncovering the genetic and cellular impacts of smoking Researchers from the University of Chicago have analysed over 900 samples of different human tissue types to investigate the extent of cellular and genetic damage caused by smoking. Generating epigenetic data to assess the effects of smoking on DNA methylation (DNAm) discovered several new regions associated with smoking.   🧬RAD51 prevents DNA re-replication Researchers from the DNA Replication Group at the CNIO - Spanish National Cancer Research Centre, and the University of Zurich, have discovered an anti-failure system of DNA replication which protects against potential errors that could lead to diseases like cancer. 🧬New findings regarding diabetes risk in childhood cancer survivors Researchers at St. Jude Children's Research Hospital have identified four previously unknown genetic variants. These provide a new understanding of differences in risk between individuals of varying ancestries. 🧬Study concludes that most aspects of aging relate to gene length New findings about how long genes become less active with age could impact treatments for neurodegeneration, among other conditions. #DNA #genome #genomics #drugdiscovery