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.

March 2025
Gene therapy of the human retina
Revakinagene taroretcel received FDA approval in the United States for treating macular telangiectasia type 2, marking a significant advancement in gene therapy for retinal conditions.
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.
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.
June 24 2024
Grail
Grail was spun out from Illumina as an independent company, ending its previous status as a subsidiary.
May 2024
Grail
Illumina publicly filed a Form 10 registration statement with the U.S. SEC for a potential capital markets separation of Grail.
April 2024
Grail
The European Commission approved Illumina's divestment plan for Grail, allowing exploration of a trade sale or capital markets transaction.
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.
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.
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.
October 2023
Grail
The European Commission ordered Illumina to divest Grail within twelve months.
July 2023
Grail
Three separate lawsuits were filed against Grail by former female employees, alleging a 'frat house' and sexually hostile work environment.
June 2023
Grail
Grail disclosed that 408 patients were incorrectly informed they may have cancer, attributing the error to a PWNHealth software configuration issue.
January 2023
Whole genome sequencing
UK Biobank released an additional 300,000 whole genome sequences.
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.
September 2022
Grail
An administrative judge ruled against the FTC's antitrust position regarding the Illumina-Grail merger.
2021
Genetic testing
The UAE Genome Project is set to be fully operational, establishing strategic partnerships with medical research centers and investing in healthcare services to prevent genetic diseases through genetic sciences and sequencing techniques.
2021
Genetic testing
A study by Khalifa University identifies four genetic markers associated with type 2 diabetes among UAE citizens for the first time, contributing to personalized medical research.
2021
Whole genome sequencing
Whole genome and exome sequencing were further deliberated as potential newborn screening tools.
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.
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.
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.
March 2021
Grail
The Federal Trade Commission (FTC) sued to block Illumina's vertical merger with Grail.
2020
Genetic testing
The Genographic Project was discontinued after fifteen years of DNA sampling and research, marking the end of the large-scale genetic research initiative.
2020
GENCODE
Completed the first pass manual annotation of the mouse reference genome, started cooperation with RefSeq and Uniprot for annotation convergence, improved lncRNA annotation, and reviewed and improved annotation for protein-coding genes associated with SARS-CoV-2 infection in response to the COVID-19 pandemic.
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.
December 2020
GENCODE
Release of Gencode 36 for human genome annotations, utilizing the latest GRCh38 human reference genome assembly.
December 2020
GENCODE
Release of Gencode M25 for mouse genome annotations.
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.
September 2020
Grail
Illumina announced an agreement to purchase Grail for $7.1 billion.
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.
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.
July 2019
100,000 Genomes Project
Genomics England announced Data Release 7, making the 100,000th whole genome available to researchers.
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.
2018
GENCODE
Added a CRISPR/Cas9 track on human and model organism assemblies to assist in searching for appropriate guide sequences with potential binding sites near transcribed regions.
2018
Heritability of autism
Richter et al. found a strong association between the TAOK2 gene and autism.
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.
December 2018
100,000 Genomes Project
The project reached its full milestone of 100,000 whole genome sequences.
2017
Whole genome sequencing
BGI began offering whole genome sequencing for $600.
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.
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.
2016
100,000 Genomes Project
Welsh government issued a statement of intent, considering participation in the 100,000 Genomes Project.
2016
Whole genome sequencing
Veritas Genetics began selling whole genome sequencing, including a report, for $999.
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).
2015
100,000 Genomes Project
Northern Ireland and Scotland joined the 100,000 Genomes Project, with plans to start work the following year.
2015
Heritability of autism
Meta-analysis of previous twin studies concluded that genetics contribute between 64% to 91% to the chances of developing autism.
2015
Whole genome sequencing
The NHGRI estimated the cost of obtaining a whole-genome sequence at around $1,500.
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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This contents of the box above is based on material from the Wikipedia articles The Resilience Project, Nutritional epigenetics, GENCODE, Grail (company), Preimplantation genetic diagnosis, Whole genome sequencing, Heritability of autism, Gene therapy of the human retina, Genomic Health, Metabolic disorder, Genetic testing, Genetic Information Nondiscrimination Act, Consanguinity & 100,000 Genomes Project, which are released under the Creative Commons Attribution-ShareAlike 4.0 International License.

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