Mohamed Wafik
@mo-wafik.bsky.social
🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics 🇬🇧 🇪🇬🔬
Reposted by Mohamed Wafik
🧠 New Insights on reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.
This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes.
www.nature.com/articles/s41...
#CognitiveScience
This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes.
www.nature.com/articles/s41...
#CognitiveScience
Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human Behaviour
Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.
www.nature.com
June 2, 2025 at 1:16 PM
🧠 New Insights on reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.
This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes.
www.nature.com/articles/s41...
#CognitiveScience
This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes.
www.nature.com/articles/s41...
#CognitiveScience
Reposted by Mohamed Wafik
GertJan van Ommen Citation Awards:
1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing
#ESHG2025
1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing
#ESHG2025
May 27, 2025 at 12:58 PM
GertJan van Ommen Citation Awards:
1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing
#ESHG2025
1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing
#ESHG2025
Reposted by Mohamed Wafik
#ESHG2025 Poster Prize: Honorary Mentions:
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)
May 27, 2025 at 1:05 PM
#ESHG2025 Poster Prize: Honorary Mentions:
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)
Reposted by Mohamed Wafik
#ESHG2025 Best Poster in Basic Research
Eva Vanbelleghem, Ghent, Belgium
P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"
Eva Vanbelleghem, Ghent, Belgium
P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"
May 27, 2025 at 1:05 PM
#ESHG2025 Best Poster in Basic Research
Eva Vanbelleghem, Ghent, Belgium
P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"
Eva Vanbelleghem, Ghent, Belgium
P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"
Reposted by Mohamed Wafik
Best Poster in Clinical Research
Rebeka Luknárová, Munich, Germany
P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
Rebeka Luknárová, Munich, Germany
P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
May 27, 2025 at 1:05 PM
Best Poster in Clinical Research
Rebeka Luknárová, Munich, Germany
P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
Rebeka Luknárová, Munich, Germany
P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
Reposted by Mohamed Wafik
ESHG Mentorship scheme awardees 2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden
#ESHG2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden
#ESHG2025
May 27, 2025 at 1:14 PM
ESHG Mentorship scheme awardees 2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden
#ESHG2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden
#ESHG2025
Reposted by Mohamed Wafik
DNA Day 2025 - Essay Contest
1st Place: Snigdha Rai (IN)
2nd Place: Mei Bejdo (AL)
3rd Place: Basak Memiguven (TR)
ESHG DNA Day 2025 - Video Contest
1st Place: Tanush Gupta (UK)
1st Place: Dakyung Yoon (KR)
3rd Place: Jaime Chan (UK)
#ESHG2025
1st Place: Snigdha Rai (IN)
2nd Place: Mei Bejdo (AL)
3rd Place: Basak Memiguven (TR)
ESHG DNA Day 2025 - Video Contest
1st Place: Tanush Gupta (UK)
1st Place: Dakyung Yoon (KR)
3rd Place: Jaime Chan (UK)
#ESHG2025
May 27, 2025 at 1:21 PM
DNA Day 2025 - Essay Contest
1st Place: Snigdha Rai (IN)
2nd Place: Mei Bejdo (AL)
3rd Place: Basak Memiguven (TR)
ESHG DNA Day 2025 - Video Contest
1st Place: Tanush Gupta (UK)
1st Place: Dakyung Yoon (KR)
3rd Place: Jaime Chan (UK)
#ESHG2025
1st Place: Snigdha Rai (IN)
2nd Place: Mei Bejdo (AL)
3rd Place: Basak Memiguven (TR)
ESHG DNA Day 2025 - Video Contest
1st Place: Tanush Gupta (UK)
1st Place: Dakyung Yoon (KR)
3rd Place: Jaime Chan (UK)
#ESHG2025
Reposted by Mohamed Wafik
Since 2018, the European Society of Human Genetics has been presenting the ELPAG Award. It is presented to honour a scientist having made an important mark in the field of Ethical, Legal and Psychosocial Aspects of Genetics.
#ESHG2025 ELPAG Award laureate:
Sylvia Metcalfe (Melbourne, Australia)
#ESHG2025 ELPAG Award laureate:
Sylvia Metcalfe (Melbourne, Australia)
May 27, 2025 at 1:21 PM
Since 2018, the European Society of Human Genetics has been presenting the ELPAG Award. It is presented to honour a scientist having made an important mark in the field of Ethical, Legal and Psychosocial Aspects of Genetics.
#ESHG2025 ELPAG Award laureate:
Sylvia Metcalfe (Melbourne, Australia)
#ESHG2025 ELPAG Award laureate:
Sylvia Metcalfe (Melbourne, Australia)
Reposted by Mohamed Wafik
SHG2025 ELPAG Early Career Award
for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics
Tara Maria Hoffmann, Hamburg, Germany
"Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"
for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics
Tara Maria Hoffmann, Hamburg, Germany
"Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"
May 27, 2025 at 1:09 PM
SHG2025 ELPAG Early Career Award
for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics
Tara Maria Hoffmann, Hamburg, Germany
"Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"
for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics
Tara Maria Hoffmann, Hamburg, Germany
"Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"
Reposted by Mohamed Wafik
#ESHG2025 Vienna Medical Academy Award:
Best presentation in translational genetic reserach/therapy of genetic diseases.
Christina Marie Kajba, London, UK
"A pooled prime editing platform in haploid human cells for high throughput variant screening"
Best presentation in translational genetic reserach/therapy of genetic diseases.
Christina Marie Kajba, London, UK
"A pooled prime editing platform in haploid human cells for high throughput variant screening"
May 27, 2025 at 1:07 PM
#ESHG2025 Vienna Medical Academy Award:
Best presentation in translational genetic reserach/therapy of genetic diseases.
Christina Marie Kajba, London, UK
"A pooled prime editing platform in haploid human cells for high throughput variant screening"
Best presentation in translational genetic reserach/therapy of genetic diseases.
Christina Marie Kajba, London, UK
"A pooled prime editing platform in haploid human cells for high throughput variant screening"
Reposted by Mohamed Wafik
#ESHG2025 Isabelle Oberlé Award:
Best presentation by an ECR on research concerning the genetics of intellectual disability.
Natalie B. Tan, Parkville, Australia
"UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"
Best presentation by an ECR on research concerning the genetics of intellectual disability.
Natalie B. Tan, Parkville, Australia
"UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"
May 27, 2025 at 1:07 PM
#ESHG2025 Isabelle Oberlé Award:
Best presentation by an ECR on research concerning the genetics of intellectual disability.
Natalie B. Tan, Parkville, Australia
"UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"
Best presentation by an ECR on research concerning the genetics of intellectual disability.
Natalie B. Tan, Parkville, Australia
"UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"
Reposted by Mohamed Wafik
#ESHG2025 Lodewijk Sandkuijl Award:
Best presentation in the field of complex disease and statistical genetics.
Cal Liao, Cambridge, United States
"The landscape of structural variation in bipolar disorder and schizophrenia across the frequency spectrum of diverse populations"
Best presentation in the field of complex disease and statistical genetics.
Cal Liao, Cambridge, United States
"The landscape of structural variation in bipolar disorder and schizophrenia across the frequency spectrum of diverse populations"
May 27, 2025 at 1:07 PM
#ESHG2025 Lodewijk Sandkuijl Award:
Best presentation in the field of complex disease and statistical genetics.
Cal Liao, Cambridge, United States
"The landscape of structural variation in bipolar disorder and schizophrenia across the frequency spectrum of diverse populations"
Best presentation in the field of complex disease and statistical genetics.
Cal Liao, Cambridge, United States
"The landscape of structural variation in bipolar disorder and schizophrenia across the frequency spectrum of diverse populations"
Reposted by Mohamed Wafik
ESHG2025# Early Career awards:
For outstanding science presented at the conference
- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain
For outstanding science presented at the conference
- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain
May 27, 2025 at 1:06 PM
ESHG2025# Early Career awards:
For outstanding science presented at the conference
- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain
For outstanding science presented at the conference
- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain
Reposted by Mohamed Wafik
#ESHG2025 Mia Neri Award
for best presentation in cancer research.
Jingzhan Lu,Exeter, United Kingdom
"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"
for best presentation in cancer research.
Jingzhan Lu,Exeter, United Kingdom
"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"
May 27, 2025 at 1:08 PM
#ESHG2025 Mia Neri Award
for best presentation in cancer research.
Jingzhan Lu,Exeter, United Kingdom
"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"
for best presentation in cancer research.
Jingzhan Lu,Exeter, United Kingdom
"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"
Reposted by Mohamed Wafik
Hilary Martin on recessive diagnoses in DD. Exome-wide burden test of biallelic genotypes. Yield of new recessive genes is low with this study design.
#ESHG2025
#ESHG2025
May 26, 2025 at 3:31 PM
Hilary Martin on recessive diagnoses in DD. Exome-wide burden test of biallelic genotypes. Yield of new recessive genes is low with this study design.
#ESHG2025
#ESHG2025
Reposted by Mohamed Wafik
Reposted by Mohamed Wafik
Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS.
@ESHG2025
@ESHG2025
May 27, 2025 at 9:55 AM
Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS.
@ESHG2025
@ESHG2025
Reposted by Mohamed Wafik
Eike Bolmer #ESHG2025
🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases
✋Using hand x-ray
🔴 Occlusion testing allows important region within the image to be defined (see below)
🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases
✋Using hand x-ray
🔴 Occlusion testing allows important region within the image to be defined (see below)
May 27, 2025 at 9:33 AM
Eike Bolmer #ESHG2025
🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases
✋Using hand x-ray
🔴 Occlusion testing allows important region within the image to be defined (see below)
🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases
✋Using hand x-ray
🔴 Occlusion testing allows important region within the image to be defined (see below)
Reposted by Mohamed Wafik
This part (in purple) was relatively easy, but it is the other less recognizable syndromes is the part needing matchmaking to figure out the underlying causes of diseases.
#eshg2025
#eshg2025
May 27, 2025 at 7:10 AM
This part (in purple) was relatively easy, but it is the other less recognizable syndromes is the part needing matchmaking to figure out the underlying causes of diseases.
#eshg2025
#eshg2025
Reposted by Mohamed Wafik
Reposted by Mohamed Wafik
Kym Boycott #ESHG2025
What is matchmaking
One? Two? Zero? sided
Why do we do it (see the photo below ☺️)
👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange
❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better
What is matchmaking
One? Two? Zero? sided
Why do we do it (see the photo below ☺️)
👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange
❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better
May 27, 2025 at 7:17 AM
Kym Boycott #ESHG2025
What is matchmaking
One? Two? Zero? sided
Why do we do it (see the photo below ☺️)
👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange
❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better
What is matchmaking
One? Two? Zero? sided
Why do we do it (see the photo below ☺️)
👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange
❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better