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Genetics research articles from across Nature Portfolio

Genetics research is the scientific discipline concerned with the study of the role of genes in traits such as the development of disease. It has a key role in identifying potential targets for therapeutic intervention and also in understanding genetically based variations in response to therapeutic interventions.

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new research in genetics

OCT analysis and MPOD assessment in patients affected by retinitis pigmentosa

  • Maria Ludovica Ruggeri
  • Luca Belloni Baroni
  • Rodolfo Mastropasqua

new research in genetics

Extrauterine support of pre-term lambs achieves similar transcriptomic profiling to late pre-term lamb brains

  • Jennifer L. Cohen
  • Felix De Bie
  • Alan W. Flake

new research in genetics

Role of Hog1-mediated stress tolerance in biofilm formation by the pathogenic fungus Trichosporon asahii

  • Yasuhiko Matsumoto
  • Mei Nakayama
  • Takashi Sugita

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

  • Katerina Slaba
  • Petra Pokorna
  • Ondrej Slaby

new research in genetics

A cross-tissue transcriptome-wide association study reveals GRK4 as a novel susceptibility gene for COPD

  • Guanglei Chen

new research in genetics

Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans

IKKα is an essential regulator of the noncanonical NF-κB signalling, lack of which is incompatible with life. Here authors show that a homozygous missense variant in humans, G167R, disrupting its kinase activity upstream of the non-canonical NF-κB pathway, leads to disrupted innate and adaptive immune functions while largely sparing other major organ systems.

  • Gökhan Cildir
  • Baran Erman

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new research in genetics

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.

  • Angelica Maria Delgado-Vega
  • Helene Cederroth
  • Ann Nordgren

new research in genetics

Inconsistent embryo selection across polygenic score methods

Private enterprises offer preimplantation genetic testing with polygenic scores to select embryos with ‘desirable’ potential. In silico simulations using biobank resources show that the selected embryo would rely substantially on the choice of polygenic score method and randomness in score construction, which raises ethical concerns.

  • Shinichi Namba
  • Masato Akiyama
  • Yukinori Okada

SPARCL1 sparkles new insight into corneal dystrophies

  • Joni A. Turunen

new research in genetics

Systematic decision frameworks for the socially responsible use of precision medicine

Deep learning techniques and whole-genome sequencing promise to increase well-being but also risk perpetuating psychological essentialism, potentially justifying inequality. In this Comment, we offer two much-needed systematic frameworks for clinicians and researchers to avoid essentialist inferences and unfair treatment: (1) a data-driven method for detecting causal fairness in precision health and (2) an ethical framework for determining when it is morally permissible to use racial classifications in population health research.

  • Ian S. Peebles
  • David B. Kinney
  • Emily Foster-Hanson

new research in genetics

Pan-African analysis identifies genetic differences in prostate cancer risk

To understand the genetic basis of disease, it is essential to study diverse populations. We conducted the largest study to date of African men to evaluate the evolutionary genetics and causes of prostate cancer. Our findings reveal novel genetic associations, including those that were not observed in studies of non-African populations.

Multi-omics analyses of the environMENTAL project provide insights into mental health and disease

Integrative analyses that incorporate different levels of ‘-omics’ data represent a powerful tool for deciphering the biological mechanisms that underlie environmental influences on mental health and disease. This Comment highlights various aspects of such multi-omics approaches, using the example of the EU-funded environMENTAL project.

  • Sylvane Desrivières
  • Abigail Miller
  • George Ogoh

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A neural network has icons of DNA strands in the circular nodes. Arrows connect the nodes.

A causal theory for studying the cause-and-effect relationships of genes

By sidestepping the need for costly interventions, a new method could potentially reveal gene regulatory programs, paving the way for targeted treatments.

November 7, 2024

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Victor Ambros (left) and Gary Ruvkun

Victor Ambros ’75, PhD ’79 and Gary Ruvkun share Nobel Prize in Physiology or Medicine

The scientists, who worked together as postdocs at MIT, are honored for their discovery of microRNA — a class of molecules that are critical for gene regulation.

October 7, 2024

Sebastian Lourido wears a lab coat with his name, and stands in a lab with blue-lit equipment.

Pursuing the secrets of a stealthy parasite

By unraveling the genetic pathways that help Toxoplasma gondii persist in human cells, Sebastian Lourido hopes to find new ways to treat toxoplasmosis.

August 25, 2024

Two panels show blue cells on a black background. Some cells have magenta and green speckles. Below, each panel two subpanels show magnified views.

Study across multiple brain regions discerns Alzheimer’s vulnerability and resilience factors

Genomics and lab studies reveal numerous findings, including a key role for Reelin amid neuronal vulnerability, and for choline and antioxidants in sustaining cognition.

July 24, 2024

Collage with three images:  Amy Finkelstein and Ben Olken holding "SUPPLY" and "DEMAND" plates; Omar Abudayyeh stands on a rooftop next to a white SUV with the license plate “CRISPR”; and a pickup truck sports an "MITXX" license plate.

License plates of MIT

Custom plates display expressions of scholarship, creativity, and MIT pride among Institute affiliates.

July 22, 2024

Monochrome portrait of Xinyi Zhang outside

Machine learning and the microscope

PhD student Xinyi Zhang is developing computational tools for analyzing cells in the age of multimodal data.

July 12, 2024

Illustration of a charm bracelet with research-themed charms: DNA, neuron, viral capsid, zinc finger, light switch

CHARMed collaboration creates a potent therapy candidate for fatal prion diseases

A new gene-silencing tool shows promise as a future therapy against prion diseases and paves the way for new approaches to treating disease.

June 27, 2024

Mary-Lou Pardue, wearing a red academic robe, poses for a photo in front of a grassy MIT courtyard

Professor Emerita Mary-Lou Pardue, pioneering cellular and molecular biologist, dies at 90

Known for her rigorous approach to science and her influential research, Pardue paved the way for women in science at MIT and beyond.

June 21, 2024

A DNA strand is trapped inside a piece of amber.

Scientists preserve DNA in an amber-like polymer

With their “T-REX” method, DNA embedded in the polymer could be used for long-term storage of genomes or digital data such as photos and music.

June 13, 2024

Rendering of curved DNA strands and components

New technique reveals how gene transcription is coordinated in cells

By capturing short-lived RNA molecules, scientists can map relationships between genes and the regulatory elements that control them.

June 5, 2024

Portrait photo of Hanjun Lee

The beauty of biology

Senior Hanjun Lee planned to pursue chemistry at MIT. A course in genetics changed that.

May 16, 2024

A rendering shows the green mRNA strand enclosed in the larger white RISC object. An orange strand is also in the white object.

Taking RNAi from interesting science to impactful new treatments

Alnylam Pharmaceuticals, founded by MIT professors and former postdocs, has turned the promise of RNAi research into a new class of powerful therapies.

May 13, 2024

Two panels show diagonal streaks of green-stained brain blood vessels over a background of blue cells. The green staining is much brighter in the left panel than in the right.

Study: Movement disorder ALS and cognitive disorder FTLD show strong molecular overlaps

Single-cell gene expression patterns in the brain, and evidence from follow-up experiments, reveal many shared cellular and molecular similarities that could be targeted for potential treatment.

March 22, 2024

A tick held by a forceps, with blurry background

A protein found in human sweat may protect against Lyme disease

Researchers also found that a variant of the protein is not as protective against the bacteria and increases susceptibility to the disease.

March 19, 2024

Pastel illustration shows two hands, creating a circle, and one hand holds a pencil and draws a DNA strand. More DNA strands are around the hands.

Scientists develop a rapid gene-editing screen to find effects of cancer mutations

With the new technique, MIT researchers hope to identify mutations that could be targeted with new cancer therapies.

March 12, 2024

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IMAGES

  1. Center for Human Genetics & Genomics Research

    new research in genetics

  2. Landmark Study: Sequencing of 64 Full Human Genomes to Better Capture

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  3. Encyclopedia of Genetics: New Research (8 Volume Set)

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  4. Advances in Genetics Research. Volume 20

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  5. Using Population Descriptors in Genetics and Genomics Research: A New

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  6. Human genome: 1 million sequences will open the doors of genetics

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VIDEO

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  6. “The Role of Genetics vs. Lifestyle in Longevity”