/4 In the new study, researchers analyzed whole-genome sequencing data from more than 9,300 people with autism and more than 8,300 people without the condition.
They identified 27 males with autism who had tiny missing pieces of DNA, known as microdeletions, in the PTCHD1-AS gene.
They identified 27 males with autism who had tiny missing pieces of DNA, known as microdeletions, in the PTCHD1-AS gene.
May 13, 2026 at 5:21 PM
/4 In the new study, researchers analyzed whole-genome sequencing data from more than 9,300 people with autism and more than 8,300 people without the condition.
They identified 27 males with autism who had tiny missing pieces of DNA, known as microdeletions, in the PTCHD1-AS gene.
They identified 27 males with autism who had tiny missing pieces of DNA, known as microdeletions, in the PTCHD1-AS gene.
This is amazing.
I pray this can help infants with chromosome microdeletions
I pray this can help infants with chromosome microdeletions
May 18, 2025 at 6:55 AM
This is amazing.
I pray this can help infants with chromosome microdeletions
I pray this can help infants with chromosome microdeletions
no autoimmune ovarian destruction (no premature menopause), no Y-microdeletions (no AZFa/b/c infertility), no X-linked androgen receptor trinucleotide expansions (no SBMA interference), no aberrant H-Y antigen expression (no immune-mediated gonadal damage), no imprinting defects...
April 17, 2025 at 12:36 PM
no autoimmune ovarian destruction (no premature menopause), no Y-microdeletions (no AZFa/b/c infertility), no X-linked androgen receptor trinucleotide expansions (no SBMA interference), no aberrant H-Y antigen expression (no immune-mediated gonadal damage), no imprinting defects...
Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, FOXG1 https://www.biorxiv.org/content/10.1101/2025.04.11.648472v1
April 18, 2025 at 6:32 AM
Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, FOXG1 https://www.biorxiv.org/content/10.1101/2025.04.11.648472v1
Through variant-to-function mapping, we show that rs17834140-T protects from CH through loss-of-function at an MSI2 enhancer. We model variant effect through CRISPR microdeletions, showing natural germline variation can protect from CH through reducing MSI2 levels in human HSCs. (6/n)
March 27, 2025 at 8:31 PM
Through variant-to-function mapping, we show that rs17834140-T protects from CH through loss-of-function at an MSI2 enhancer. We model variant effect through CRISPR microdeletions, showing natural germline variation can protect from CH through reducing MSI2 levels in human HSCs. (6/n)
Detailed characterization of the recurrent, independent evolution of a medically relevant locus across humans and great apes — the 17q21.31 locus
By @psudmant.bsky.social and colleagues
🧪🧬
www.biorxiv.org/content/10.1...
By @psudmant.bsky.social and colleagues
🧪🧬
www.biorxiv.org/content/10.1...
Rapid turnover and recurrent structural variation at the 17q21.31 locus in modern and ancient human genomes, and primates
The 17q21.31 locus in humans harbors several complex structural haplotypes including a ~970kb inversion. Different inversion haplotypes have been associated with susceptibility to microdeletions causi...
www.biorxiv.org
August 16, 2025 at 7:28 AM
Detailed characterization of the recurrent, independent evolution of a medically relevant locus across humans and great apes — the 17q21.31 locus
By @psudmant.bsky.social and colleagues
🧪🧬
www.biorxiv.org/content/10.1...
By @psudmant.bsky.social and colleagues
🧪🧬
www.biorxiv.org/content/10.1...
📢 16p13.3 microdeletions disrupt neurodevelopment through diverse DNA repair pathways, revealing the complex biology behind these structural changes. 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches - European Journal of Human Genetics
European Journal of Human Genetics - Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
www.nature.com
September 18, 2025 at 12:11 PM
📢 16p13.3 microdeletions disrupt neurodevelopment through diverse DNA repair pathways, revealing the complex biology behind these structural changes. 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Meet our summer students @dkjei-uhn.bsky.social
Ryan Vial, from @mcmasteruniversity.bsky.social, is a summer student in Dr. Karun Singh's lab. His summer project focuses on studying early #neurodevelopmental disorders using 3D stem cell models derived from patients with 15q13.3 microdeletions (1/2)
Ryan Vial, from @mcmasteruniversity.bsky.social, is a summer student in Dr. Karun Singh's lab. His summer project focuses on studying early #neurodevelopmental disorders using 3D stem cell models derived from patients with 15q13.3 microdeletions (1/2)
August 20, 2025 at 8:48 AM
Meet our summer students @dkjei-uhn.bsky.social
Ryan Vial, from @mcmasteruniversity.bsky.social, is a summer student in Dr. Karun Singh's lab. His summer project focuses on studying early #neurodevelopmental disorders using 3D stem cell models derived from patients with 15q13.3 microdeletions (1/2)
Ryan Vial, from @mcmasteruniversity.bsky.social, is a summer student in Dr. Karun Singh's lab. His summer project focuses on studying early #neurodevelopmental disorders using 3D stem cell models derived from patients with 15q13.3 microdeletions (1/2)
I have a balanced chromosome translocation on 2 and 6 and if you look at the break points where there are potential microdeletions, literally every gene is like "may be linked to autism!" while also being very specific like "causes spleen to develop on forehead." We have NOOO IDEA.
July 16, 2025 at 6:25 PM
I have a balanced chromosome translocation on 2 and 6 and if you look at the break points where there are potential microdeletions, literally every gene is like "may be linked to autism!" while also being very specific like "causes spleen to develop on forehead." We have NOOO IDEA.
An AI based tool that predicts assisted reproduction outcomes in infertile men with a genetic cause
#infertility #ivf #male
link.springer.com/article/10.1...
#infertility #ivf #male
link.springer.com/article/10.1...
FertilitY Predictor—a machine learning-based web tool for the prediction of assisted reproduction outcomes in men with Y chromosome microdeletions - Journal of Assisted Reproduction and Genetics
Purpose Y chromosome microdeletions (YCMD) are a common cause of azoospermia and oligozoospermia in men. Herein, we developed a machine learning-based web tool to predict sperm retrieval rates and suc...
link.springer.com
November 8, 2025 at 6:00 AM
An AI based tool that predicts assisted reproduction outcomes in infertile men with a genetic cause
#infertility #ivf #male
link.springer.com/article/10.1...
#infertility #ivf #male
link.springer.com/article/10.1...
Breaking the 7 Mb barrier: Clinical cohort validation of genome-wide NIPT with fetal fraction enrichment and BinDel for detection of 1 Mb microdeletions and - duplications #RareDisease #Genetics www.medrxiv.org/content/10.6...
Breaking the 7 Mb barrier: Clinical cohort validation of genome-wide NIPT with fetal fraction enrichment and BinDel for detection of 1 Mb microdeletions and - duplications
Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome-wide noninvasive prenatal testing (GW-NIPT) for detection of clinically relevant copy number varian...
www.medrxiv.org
February 16, 2026 at 9:07 PM
Breaking the 7 Mb barrier: Clinical cohort validation of genome-wide NIPT with fetal fraction enrichment and BinDel for detection of 1 Mb microdeletions and - duplications #RareDisease #Genetics www.medrxiv.org/content/10.6...
Introducing our brand new lab partner:
Future Health Laboratories
Future Health's unique offering is their NIPT+ with Microdeletions service which offers a comprehensive NIPT test at one of the most competitive price points, £499
Book online today at https://ybs.clinic/bloods
Future Health Laboratories
Future Health's unique offering is their NIPT+ with Microdeletions service which offers a comprehensive NIPT test at one of the most competitive price points, £499
Book online today at https://ybs.clinic/bloods
June 10, 2025 at 9:55 PM
Introducing our brand new lab partner:
Future Health Laboratories
Future Health's unique offering is their NIPT+ with Microdeletions service which offers a comprehensive NIPT test at one of the most competitive price points, £499
Book online today at https://ybs.clinic/bloods
Future Health Laboratories
Future Health's unique offering is their NIPT+ with Microdeletions service which offers a comprehensive NIPT test at one of the most competitive price points, £499
Book online today at https://ybs.clinic/bloods
The DNA that's being tested is already in fragments!! You can't really test if those fragments are from whole chromosomes or chromosomes with microdeletions. It's a pointless exercise. Why would I pay for it?
April 3, 2024 at 7:17 PM
The DNA that's being tested is already in fragments!! You can't really test if those fragments are from whole chromosomes or chromosomes with microdeletions. It's a pointless exercise. Why would I pay for it?
When science meets society: A patient-centered framework for reporting fetal #CNVs bit.ly/42zaMnL #cfDNA #prenatalscreening
January 29, 2025 at 9:34 PM
When science meets society: A patient-centered framework for reporting fetal #CNVs bit.ly/42zaMnL #cfDNA #prenatalscreening
The authors included RRIDs in their in Nature Communications paper! RRIDs improve reproducibility in scientific research. #OpenScience #accelerateopenscience #ReproducibleResearch
Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1 - Nature Communications
Researchers show that small deletions near FOXG1 disrupt gene regulation, lower FOXG1 abundance, and cause neurodevelopmental disorders. The work highlights how dissection of the FOXG1 regulatory landscape can advance our understanding of disease.
doi.org
August 9, 2026 at 7:02 AM
The authors included RRIDs in their in Nature Communications paper! RRIDs improve reproducibility in scientific research. #OpenScience #accelerateopenscience #ReproducibleResearch
United States Non-Invasive Prenatal Testing (NIPT) for Microdeletions Market Growth, Forecast & Key Players dataedgeinsights.blogspot.com/2026/07/unit...
United States Non-Invasive Prenatal Testing (NIPT) for Microdeletions Market Growth, Forecast & Key Players
United States Non‑Invasive Prenatal Testing (NIPT) for Microdeletions market size was valued at USD 0.36 billion in 2025. The market is pro...
dataedgeinsights.blogspot.com
July 15, 2026 at 9:28 AM
United States Non-Invasive Prenatal Testing (NIPT) for Microdeletions Market Growth, Forecast & Key Players dataedgeinsights.blogspot.com/2026/07/unit...
Free access link to the paper (50 days): www.sciencedirect.com/science/arti...
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
8q21.11 microdeletions involving ZFHX4 have previously been associated with a syndromic form of intellectual disability, hypotonia, unstable gait, and…
www.sciencedirect.com
May 13, 2025 at 7:11 PM
Free access link to the paper (50 days): www.sciencedirect.com/science/arti...
These microdeletions are also apparently associated with greatly reduced anxiety, increased learning (not sure how exactly yet, does it affect the hippocampus? Does it reduce glutamate build up? Does potentially reducing inflammation play a role? I have no idea.),
June 22, 2026 at 3:33 AM
These microdeletions are also apparently associated with greatly reduced anxiety, increased learning (not sure how exactly yet, does it affect the hippocampus? Does it reduce glutamate build up? Does potentially reducing inflammation play a role? I have no idea.),
Microdeletions in the FAAH-OUT pseudogene which modulates FAAH causes a reduction in FAAH activity and maintains high levels of fatty acid amides in the blood which can eliminate pain (even the FAAs that aren’t endocannabinoids can take the place of those that are in being broken down by FAAH).
June 22, 2026 at 3:33 AM
Microdeletions in the FAAH-OUT pseudogene which modulates FAAH causes a reduction in FAAH activity and maintains high levels of fatty acid amides in the blood which can eliminate pain (even the FAAs that aren’t endocannabinoids can take the place of those that are in being broken down by FAAH).
Thanks to überbased David Pearce, I learned about the Fatty Acid Amide Hydrolase (FAAH) and SCN9A genes’ role in pain and how mutating them or causing microdeletions for them can eliminate physical pain entirely (though apparently emotional/limbic pain is still possible). Explanation below.
June 22, 2026 at 3:33 AM
Thanks to überbased David Pearce, I learned about the Fatty Acid Amide Hydrolase (FAAH) and SCN9A genes’ role in pain and how mutating them or causing microdeletions for them can eliminate physical pain entirely (though apparently emotional/limbic pain is still possible). Explanation below.
Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, FOXG1 #RareDisease #Genetics www.biorxiv.org/content/10.1...
April 1, 2026 at 3:37 PM
Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, FOXG1 #RareDisease #Genetics www.biorxiv.org/content/10.1...
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches #RareDisease #Genetics www.nature.com/articles/s41...
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches - European Journal of Human Genetics
European Journal of Human Genetics - Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
www.nature.com
July 29, 2025 at 8:35 AM
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches #RareDisease #Genetics www.nature.com/articles/s41...
Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome #RareDisease #Genetics clinicalepigeneticsjournal.biomedcentral.com/articles/10....
May 8, 2025 at 6:15 PM
Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome #RareDisease #Genetics clinicalepigeneticsjournal.biomedcentral.com/articles/10....
Microdeletions of chromosome 7p21, including TWIST1, associated with s... www.sciencedirect.com/science/arti...
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature
Saethre–Chotzen syndrome due to TWIST1 mutations is characterized by coronal synostosis, facial dysmorphism and additional variable anomalies. Small d…
www.sciencedirect.com
October 15, 2025 at 1:55 AM
Microdeletions of chromosome 7p21, including TWIST1, associated with s... www.sciencedirect.com/science/arti...