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BPAN Warriors: A Rare Disease Community’s Search for Connection, Collaboration and a Cure Beta-propeller protein-associated neurodegeneration (BPAN) is an X-linked, monogenic, neurodegenerative disease, caused by mutations in the WDR45 gene. Although BPAN is a genetic condition, it is usually not inherited from a parent (see link to BPAN at http://nbiacure.org/). The condition presents with childhood [...]
Something to Smile About: The Journey Toward a Cure with Rare Disease Foundation NFED Laura Chunn Family Foundations Play a Key Role in Accelerating Cures for Rare Disease Using internet resources to research symptoms can quickly lead down a path to paranoia. A simple ache becomes a harbinger of a deadly disease in record time. [...]
A University of Pennsylvania-led team has identified hundreds of kidney disease risk loci, bringing in additional epigenetic, gene expression, single-cell, and functional data to dig into some of the genes, pathways, and cell types behind the genetic associations. "[W]e report a comprehensive analysis of the genetic determinant of human kidney function and show the [...]
Quick takes: Q&A with Jeff Evelhoch on Imaging Biomarkers for Alzheimer’s Disease Jeffrey L. Evelhoch Alzheimer’s Disease (AD) is a growing health issue that will continue unabated as the population ages. Despite significant resources and the best efforts to develop therapeutics for AD, little success has been realized – much to the frustration of researchers. Between [...]
Using Zebrafish to Advance Disease Research by Mark Behlke Introduction and Background on Zebrafish Since the introduction of CRISPR-Cas9 gene editing in the last few years, the technology has generated substantial attention and excitement for its ability to make precise, permanent changes to DNA in animals and plants. By altering DNA sequences, CRISPR has the [...]
Using Zebrafish to Advance Disease Research by Mark Behlke Introduction and Background on Zebrafish Since the introduction of CRISPR-Cas9 gene editing in the last few years, the technology has generated substantial attention and excitement for its ability to make precise, permanent changes to DNA in animals and plants. By altering DNA sequences, CRISPR has the [...]
Diffuse intrinsic pontine glioma (DIPG): A rare childhood brainstem tumor An interview with Jing Kang Background on Jing and Lily Dr. Jing Kang is currently a Global Project Manager, Molecular Diagnostics, QIAGEN based in the UK. She is the mother of two beautiful girls, 8-year-old Lily and 2-year-old Mia. Jing was born in China and [...]
Moving Towards Individualized Care for Cardiovascular Disease by Jane A. Leopold, M.D., Brigham and Women’s Hospital and Harvard Medical School Abstract Precision medicine takes an integrative approach to guide the prevention, diagnosis, and treatment of cardiovascular disease. This is accomplished by considering a person’s genetic makeup, their lifestyle habits, and disease or environmental exposures as [...]
Fabric Genomics, Inc., today announced that the Broad Institute of MIT and Harvard has selected the company to support the development and implementation of its clinical whole genome sequencing-based offerings. As part of the agreement, Fabric Genomics will provide the AI-based clinical decision support platform used to support the interpretation of clinical whole genomes [...]
Sema4 (Nasdaq: SMFR), an AI-driven genomic and clinical data intelligence platform company, and OPKO Health, Inc. (Nasdaq: OPK) (“OPKO”), a multinational biopharmaceutical and diagnostics company, announced they have signed a definitive agreement for Sema4 to acquire OPKO’s wholly owned subsidiary, GeneDx, Inc. (“GeneDx”), a leader in genomic testing and analysis, from OPKO. The acquisition [...]
