Medical genetics
Medicine focused on hereditary disorders
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We include updates on Consanguinity, Gene therapy, Heritability of IQ, Metabolic disorder, Savior sibling, Genetic testing, Whole genome sequencing, Consanguine marriage, Genetic counseling, Heritability of autism, Paternal age effect, Penetrance, Preimplantation genetic diagnosis, Genetic Information Nondiscrimination Act, Alex Blackwell, Dysmorphic feature ... and more.
| 2024 |
Heritability of autism
Martini et al. twin study suggested that genetic factors have a greater influence on the stability of autistic traits compared to environmental factors.
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| 2024 |
Preimplantation genetic diagnosis
Alabama Supreme Court ruled that frozen embryos in test tubes should be considered children, creating significant legal implications for reproductive care and potentially impacting preimplantation genetic diagnosis practices.
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| June 24 2024 |
Grail
Grail was spun out from Illumina as an independent company, ending its previous status as a subsidiary.
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| May 2024 |
Grail
Illumina publicly filed a Form 10 registration statement with the U.S. SEC for a potential capital markets separation of Grail.
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| April 2024 |
Grail
The European Commission approved Illumina's divestment plan for Grail, allowing exploration of a trade sale or capital markets transaction.
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| 2023 |
Metabolic disorder
A meta-analysis of six cohort studies involving 484,994 participants was conducted, examining the relationship between metabolic syndrome and Alzheimer's disease risk, finding no significant overall association but identifying links between individual metabolic components and increased AD risk.
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| 2023 |
Metabolic disorder
A systematic review and meta-analysis demonstrated the effectiveness of medical nutrition therapy (MNT) in managing metabolic disorders, showing significant improvements in glycemic control, anthropometric measures, lipid profiles, and blood pressure for adults with prediabetes when nutrition interventions are personalized.
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| 2023 |
Whole genome sequencing
The Lancet published an opinion suggesting that in the UK, upgrading targeted gene panels might be more practical in the short term, while recommending cautious examination of whole genome sequencing for long-term implementation.
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| October 2023 |
Grail
The European Commission ordered Illumina to divest Grail within twelve months.
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| July 2023 |
Grail
Three separate lawsuits were filed against Grail by former female employees, alleging a 'frat house' and sexually hostile work environment.
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| June 2023 |
Grail
Grail disclosed that 408 patients were incorrectly informed they may have cancer, attributing the error to a PWNHealth software configuration issue.
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| January 2023 |
Whole genome sequencing
UK Biobank released an additional 300,000 whole genome sequences.
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| 2022 |
Heritability of autism
A study conducted on 86 mother-child dyads over 18 months found that prior maternal depression did not predict child behavior problems later.
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| September 2022 |
Grail
An administrative judge ruled against the FTC's antitrust position regarding the Illumina-Grail merger.
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| 2021 |
Whole genome sequencing
Whole genome and exome sequencing were further deliberated as potential newborn screening tools.
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| 2021 |
Whole genome sequencing
The NIH funded BabySeq2, an implementation study expanding the original BabySeq project by enrolling 500 infants from diverse families to track the effects of genomic sequencing on pediatric care.
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| November 2021 |
Whole genome sequencing
UK Biobank made available the largest public dataset of whole genomes through a web platform, with 500,000 genomes linked to anonymized medical information.
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| June 2021 |
Grail
Grail launched its Galleri test, a liquid biopsy multi-cancer early detection test, which was promoted as a groundbreaking medical screening tool.
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| March 2021 |
Grail
The Federal Trade Commission (FTC) sued to block Illumina's vertical merger with Grail.
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| 2020 |
Heritability of autism
A study was published exploring the sex bias mechanism in autism spectrum disorder, focusing on genetic differences between males and females related to X chromosome mutations.
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| November 27 2020 |
Grail
Grail announced a commercial partnership with the National Health Service (England) to trial the Galleri test, with reporting expected in 2026.
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| September 2020 |
Grail
Illumina announced an agreement to purchase Grail for $7.1 billion.
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| June 2020 |
100,000 Genomes Project
Lifebit, a UK-based biotechnology company, was selected to provide the trusted research environment linking genomic data with academic research institutions.
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| April 2020 |
The Resilience Project
The Resilience Project initiated a participatory research study focused on individuals in the United States, aimed at investigating severe genetic disorders.
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| July 2019 |
100,000 Genomes Project
Genomics England announced Data Release 7, making the 100,000th whole genome available to researchers.
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| July 2019 | Exact Sciences announced the acquisition of Genomic Health to expand their portfolio of medical tests. |
| June 2019 |
Whole genome sequencing
Veritas Genetics cut the cost for whole genome sequencing to $599.
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| 2018 |
Heritability of autism
Richter et al. found a strong association between the TAOK2 gene and autism.
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| 2018 |
Whole genome sequencing
Researchers at Rady Children's Hospital determined that rapid whole-genome sequencing could diagnose genetic disorders in time to change acute medical management and improve infant outcomes.
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| December 2018 |
100,000 Genomes Project
The project reached its full milestone of 100,000 whole genome sequences.
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| 2017 |
Whole genome sequencing
BGI began offering whole genome sequencing for $600.
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| March 2017 |
Whole genome sequencing
Retrospective cohort study of acutely ill inpatient infants concluded at Rady Children's Hospital, demonstrating significant diagnostic and clinical utility of rapid whole-genome sequencing.
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| March 8 2017 |
Genetic Information Nondiscrimination Act
HR 1313 - Preserving Employee Wellness Programs Act was introduced in the 115th Congress by Chairwoman Virginia Foxx, potentially allowing employers to demand workers' genetic test results. The bill was reported out of committee to the full House for debate but did not pass before the congressional term ended.
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| 2016 |
100,000 Genomes Project
Welsh government issued a statement of intent, considering participation in the 100,000 Genomes Project.
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| 2016 |
Whole genome sequencing
Veritas Genetics began selling whole genome sequencing, including a report, for $999.
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| July 2016 |
Whole genome sequencing
Retrospective cohort study of acutely ill inpatient infants began at Rady Children's Hospital Institute for Genomic Medicine in San Diego, examining rapid whole-genome sequencing (rWGS).
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| 2015 |
100,000 Genomes Project
Northern Ireland and Scotland joined the 100,000 Genomes Project, with plans to start work the following year.
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| 2015 |
Heritability of autism
Meta-analysis of previous twin studies concluded that genetics contribute between 64% to 91% to the chances of developing autism.
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| 2015 |
Whole genome sequencing
The NHGRI estimated the cost of obtaining a whole-genome sequence at around $1,500.
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| 2015 |
Grail
Grail was founded as a biotechnology and pharmaceutical startup in San Francisco, with Illumina as its parent company. Richard Klausner, former National Cancer Institute director, advocated for the new business and joined its board of directors.
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| 2015 |
Preimplantation genetic haplotyping
PGH was used in conjunction with whole-genome amplification (WGA) to diagnose disease and distinguish between meiotic and mitotic segregation errors, expanding the capabilities of preimplantation genetic diagnosis.
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| September 2015 |
100,000 Genomes Project
Genomics England contracted interpretation partners Congenica and Omicia, and announced that the first diagnoses from the Project were returned to patients.
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| 2014 |
Heritability of autism
A meta-analysis found significant associations between autism and several single-nucleotide polymorphisms in the OXTR gene.
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| September 2014 |
Whole genome sequencing
At the 3Gb-TEST Consortium meeting in Athens, the term 'genotranslation' was coined to describe the crucial step of analyzing and interpreting sequence data.
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| February 2014 |
Whole genome sequencing
Illumina claimed they would soon achieve the $1,000 genome.
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| 2013 |
Whole genome sequencing
Green and a research team launched the BabySeq Project to investigate the ethical and medical implications of sequencing newborns' entire DNA.
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| 2013 |
Whole genome sequencing
The 3Gb-TEST consortium obtained European Union funding to prepare the healthcare system for innovations in DNA diagnostics.
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This contents of the box above is based on material from the Wikipedia articles Consanguinity, Whole genome sequencing, Heritability of autism, Preimplantation genetic diagnosis, Preimplantation genetic haplotyping, Genetic Information Nondiscrimination Act, The Resilience Project, Grail (company), Metabolic disorder, Genomic Health, Nutritional epigenetics, 100,000 Genomes Project & Heritability of IQ, which are released under the Creative Commons Attribution-ShareAlike 4.0 International License.