Martin Kennedy
@geneticsprof.bsky.social
DNA and all its possibilities
Synonymous variants can impact on disease, in this case via altered splicing: A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome url: academic.oup.com/hmg/article-...
A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome
Abstract. Raine syndrome (RNS) is an autosomal recessive neonatal osteosclerotic bone dysplasia that usually results in death in the postnatal period. Pati
academic.oup.com
October 10, 2025 at 1:11 AM
Synonymous variants can impact on disease, in this case via altered splicing: A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome url: academic.oup.com/hmg/article-...
Reposted by Martin Kennedy
The most interesting report of the week (IMHO) 🧵
New @nature.com
The possibility that lithium deficiency is a driver of Alzheimer's disease. Experimental model shows Li depletion impedes amyloid clearance, and repletion in humans could be achieved with low doses
nature.com/articles/s41...
The possibility that lithium deficiency is a driver of Alzheimer's disease. Experimental model shows Li depletion impedes amyloid clearance, and repletion in humans could be achieved with low doses
nature.com/articles/s41...
Lithium deficiency and the onset of Alzheimer’s disease - Nature
Lithium has an essential role in the brain and is deficient early in Alzheimer’s disease, which can be recapitulated in mice and treated with a novel lithium salt that restores the physiological level.
nature.com
August 7, 2025 at 11:29 PM
The most interesting report of the week (IMHO) 🧵
Great read…. thespinoff.co.nz/politics/15-...
A deeply frustrating line-by-line reading of Casey Costello’s letter to Health NZ
Does the associate minister of health know that sex and gender are two different things? Her letter suggests no.
thespinoff.co.nz
April 15, 2025 at 10:22 AM
Great read…. thespinoff.co.nz/politics/15-...
Reposted by Martin Kennedy
“There are regions of the genome I didn’t even realise I was missing". At #ACMG, Dr Wendy Chung shared how her team is using nanopore sequencing to help uncover answers in unsolved rare disease cases—highlighting a 24% increase in diagnostic yield across one cohort: youtube.com/watch?v=f5YX... 1/2
Diagnosing the undiagnosed with long-read genome data | ACMG | Corporate Satellite Wendy Chung
YouTube video by Oxford Nanopore Technologies
youtube.com
April 7, 2025 at 4:54 PM
“There are regions of the genome I didn’t even realise I was missing". At #ACMG, Dr Wendy Chung shared how her team is using nanopore sequencing to help uncover answers in unsolved rare disease cases—highlighting a 24% increase in diagnostic yield across one cohort: youtube.com/watch?v=f5YX... 1/2
Reposted by Martin Kennedy
Update on measles in the US, cases and deaths, in context of vaccine introduction
April 6, 2025 at 5:45 PM
Update on measles in the US, cases and deaths, in context of vaccine introduction
Reposted by Martin Kennedy
Another $2.6 billion in cuts to NIH are coming by next Tuesday
www.statnews.com/2025/04/03/n... The shredded image fits
www.statnews.com/2025/04/03/n... The shredded image fits
Trump administration orders NIH to eliminate $2.6 billion in federal contracts
At a chaotic time, the NIH is given a deadline of April 8 to make a 35% cut in services that may include specimen storage, genetic counseling, and administration.
www.statnews.com
April 3, 2025 at 8:29 PM
Another $2.6 billion in cuts to NIH are coming by next Tuesday
www.statnews.com/2025/04/03/n... The shredded image fits
www.statnews.com/2025/04/03/n... The shredded image fits
23andMe plans to sell its huge genetic database: could science benefit? www.nature.com/articles/d41... Welcome to you, goodbye to your data....
23andMe plans to sell its huge genetic database: could science benefit?
Following the firm’s bankruptcy, researchers hope that they will still be able to access the valuable data set even if it is sold to new owners.
www.nature.com
April 3, 2025 at 9:19 PM
23andMe plans to sell its huge genetic database: could science benefit? www.nature.com/articles/d41... Welcome to you, goodbye to your data....
Reposted by Martin Kennedy
The frequently used medical term "heart failure" is awful and needs to be replaced
www.nejm.org/doi/full/10.... @nejm.org
www.nejm.org/doi/full/10.... @nejm.org
March 26, 2025 at 10:15 PM
The frequently used medical term "heart failure" is awful and needs to be replaced
www.nejm.org/doi/full/10.... @nejm.org
www.nejm.org/doi/full/10.... @nejm.org
Reposted by Martin Kennedy
For those who want to know more about our research programme that seeks to understand the genetics associated with eating disorders inclusive of anorexia, bulimia, binge eating disorder and ARFID, check out our website edgi.nz We have all sorts of information and blogs related this to our research.
Please take our survey to help us understand more about eating disorders.
The Eating Disorders Genetics Initiative (EDGI) is the world's largest genetic investigation into eating disorders ever performed. The local arm of EDGI aims to identify hundreds of genes that influen...
edgi.nz
March 11, 2025 at 11:26 PM
For those who want to know more about our research programme that seeks to understand the genetics associated with eating disorders inclusive of anorexia, bulimia, binge eating disorder and ARFID, check out our website edgi.nz We have all sorts of information and blogs related this to our research.