Researchers discovered widespread age-related changes in genome regulation starting in midlife, linked to neurodegenerative diseases. A single-cell study found dramatic shifts in microglia, a type of brain's immune cells, and erosion of three-dimensional genome architecture.
Dr. Bing Ren, a renowned expert in genomics and epigenetics, joins the New York Genome Center as its new scientific director and CEO. His groundbreaking contributions will focus on translating genomic research into actionable insights for improving human health.
Researchers have discovered a novel method to quantify the risk of private information leakage in single-cell gene expression datasets. They found that individuals can be linked to their genetic profiles using publicly available data, highlighting a significant privacy concern.
A team of NYGC researchers, led by Dr. Melissa Davis, has received a $25M grant to study cancer inequities in diverse populations. They aim to analyze genomic data from participants with African ancestry to identify factors contributing to disparities in cancer outcomes.
Researchers used CRISPR gene editing to study the impact of CHD8 mutations on human cortical neurons. The study found that CHD8 alterations drive molecular and cellular defects in neurons, leading to reduced activity and synaptic communication.
The NY Genome Center will use patient-derived stem cells models combined with functional genomics and genome engineering to shed light on the biological processes underlying bipolar disorder. The study aims to address gaps in knowledge of genetic risk for bipolar disorder and advance treatment strategies.
Two NYGC research teams have been selected as grant recipients under the NIH Common Fund SMaHT Network. The first team will generate a high-quality somatic variant catalog leveraging three core sequencing assays, while the second team will develop innovative tools for studying somatic mosaicism using a single-cell multi-omics approach.
The expanded 1000 Genomes Project resource now includes nearly all parent-child trios alongside the original samples, sequenced at high coverage using Illumina NovaSeq instruments. This comprehensive analysis presents significant improvements in variant calls, especially among rare SNVs, INDELs, and SVs.
Researchers have mapped RNA diversity in human tissues at unprecedented depth, discovering tens of thousands of novel transcripts. The study used long read sequencing to catalog the genetic code's transcripts, shedding light on how genetic and environmental differences affect gene regulation.
Scientists have developed a genetic screening platform to identify genes that enhance immune cells' persistence and ability to eradicate tumor cells. By combining these genes with existing CAR-T cell therapy, researchers were able to engineer T cells that are more effective at eliminating tumor cells.
Researchers developed chemically modified guide RNAs for an RNA-targeting CRISPR system, significantly enhancing the ability to target and edit RNA in human cells. The optimized guides increased efficiencies of CRISPR activity by 2- to 5-fold and extended targeting activity from 48 hours to four days.
The study created a large-scale atlas of chromatin accessibility changes with the loss of individual enzymes, revealing how DNA is organized in cancer cells. Chromatin modifications are linked to diverse human traits and diseases, most notably cancer, where their loss results in global gene expression changes.
A team of scientists used CRISPR technology to systematically knockout human genes and identified individual genes that confer resistance to SARS-CoV-2 infection. The study found that inhibiting these genes with small molecules reduced viral load, offering new therapeutic targets for COVID-19 treatment.
The GTEx resource provides an important tool to address the relationship between genetic variants and gene regulation, with analysis discovering eQTLs and sQTLs for the vast majority of genes. The study details mechanisms of how genetic effects from coding and non-coding regions affect gene expression and splicing regulation.
Dr. Sanjana's research uses high-throughput genome engineering technologies to identify genes that can boost the effectiveness of CAR T-cell therapy for pancreatic ductal adenocarcinoma. The project aims to overcome immunosuppression in pancreatic cancer and potentially lead to improved immunotherapies.
Scientists developed a new CRISPR screen technology to target RNA, enabling accurate and fast detection of specific RNA targets. The technology uses Cas13 enzymes to identify key genes involved in various diseases, including cancer and sickle-cell anemia.
The New York Genome Center has received a $1.5 million grant from the Chan Zuckerberg Initiative to develop a single-cell analysis toolkit. The project will leverage multimodal methods to identify disease-causing genes and extract more information at reduced cost.
ECCITE-seq allows researchers to profile different types of biomolecules from thousands of single cells in parallel, offering a breadth of information that can be used as readout in CRISPR-based pooled genetics screens. This technique enables fine dissection of specific cell subtypes and helps reveal a transcriptomic signature of malig...
Researchers have created a new gene expression atlas for ALS, providing unparalleled detail on disease progression. The atlas uncovers early changes in the disease and reveals disease-driven changes in signaling pathways across all cell types in the central nervous system.
The ALS Association has committed an additional $3.5 million to the NYGC's CGND, while The Tow Foundation has contributed $2.5 million, renewing support for genomic research and patient data analysis. These investments aim to accelerate the development of new treatments and a cure for ALS.
Researchers discovered a molecular mechanism behind variable penetrance, where identical gene mutations have varying effects on disease severity. They found an enrichment of combinations of regulatory and coding variants that act as protective against disease by decreasing the penetrance of coding variants.
The NY Genome Center will create tools for personalized treatment and tackle questions about tumor biology across genetically diverse populations. Researchers aim to improve outcomes for patients by increasing participation of underrepresented ethnic groups in genomic databases.
A new computational method, Lancet, enables more accurate identification of rare gene mutations in cancer cells by jointly analyzing tumor and normal cell genomes. This approach outperforms existing methods in detecting somatic variants with higher accuracy and sensitivity.
A new, portable microfluidic device has been developed to facilitate single-cell analysis and identify fibroblast subtypes in rheumatoid arthritis (RA) patients. The device, which can be assembled for $600, enables researchers to profile joint synovial tissue from RA patients on-site, optimizing sample quality.
A new study published in Nature Communications reveals genetic variants that affect the immune response to infections, linking genetics and environment to disease risk. The research identified hundreds of genes where gene expression changes depend on individual genetic variants, shedding light on the genomic elements underlying immune ...
Researchers discovered dozens of new genes involved in resistance to immunotherapy treatments for cancer patients. The study used a novel CRISPR technique to examine genetic mutations in cancer cells and their interactions with the immune system.
A new technique called CITE-seq enables simultaneous measurement of transcriptomes and proteins on thousands of single cells, offering a major breakthrough in cell typing and disease research. The tool has the potential to characterize tumor heterogeneity and develop new immunotherapeutic approaches.
Dr. Tuuli Lappalainen is awarded a 5-year, $1.7 million NIH grant to investigate why identical genetic mutations cause disease in some individuals but not others. The study aims to understand the role of haplotype epistasis in human evolution and disease.
The Melanoma Research Alliance awarded Dr. Neville Sanjana a grant to use CRISPR technology to identify genetic mutations causing immunotherapy resistance in melanoma. The goal is to create a list of actionable mutations for patients enrolled in melanoma immunotherapy trials.
Dr. Neville Sanjana, a CRISPR specialist, has received the prestigious 2017 Kimmel Scholar Award to fund his study on cancer immunotherapy. His research aims to leverage CRISPR technology to comprehensively survey mutations that allow cancer cells to resist immunotherapy treatment.