Biochemistry & Medical Genetics News

 


  
August 20, 2019

Congratulations to Qian Liu

Successful Master of Science Defense
(Supervisor: Dr. Pingzhao Hu)

Titled: “Deep learning for magnetic resonance imaging-genomic mapping of invasive breast carcinoma”


  
August 19, 2019

Congratulations to Nikho Hizon

Successful Master of Science Defense
(Supervisor: Dr. Hao Ding)

Titled: “Characterization of the genetic alterations in RTEL1-deficient mouse medulloblastoma model”


  
August 14, 2019

Congratulations to Nikta Feizi

Successful Master of Science Defense
(Supervisor: Dr. Pingzhao Hu)

Titled: “Computational prediction of the pathogenic status of cancer-specific somatic variants”


  
July 24, 2019

Congratulations to Shavira Narrandes

Successful Master of Science Defense
(Supervisor: Dr. Spencer Gibson)

Titled: “The qRT-PCR Assay and the Genomic/Epigenomic Properties of the 10-Gene Yin Yang Expression Ratio Signature in Non-Small Cell Lung Cancer”


  
July 8, 2019

Congratulations to Ashleigh Hansen

Successful Master of Science Defense
(Supervisor: Dr. Francis Amara)

Titled: “Exploring Immigrants’ Perceptions of Genetic Counselling”


  
July 3, 2019

Congratulations to Angela Krutish

Successful Master of Science Defense
(Supervisor: Ms. Jessica Hartley)

Titled: “Exploration of the Genetic Assistant Position in the Provision of Genetics Services”


  
June 19, 2019

Congratulations to Rachelle Dinchong

Successful Master of Science Defense
(Supervisor: Dr. Patrick Frosk)

Titled: “Reducing the psychosocial impact of a false positive newborn screen for inborn errors of metabolism”


  
June 3, 2019

Congratulations to Dr. Meaghan Jones

who was a recipient of a New Frontiers in Research Fund (NFRF) grant, along with Dr. Ayesha Saleem, worth $250,000 over two years.

Her research title "Reversing frailty through transmission of epigenetic age by extracellular vesicles" looks to reverse physiological markers of aging such as the epigenetic clock and impaired metabolism.

CTV recently featured this project and the video is available here!

UM Today News article here


  
May 23, 2019

Congratulations to Dr. Jim Davie

 

 on being designated as a Distinguished Professor at the University of Manitoba.

The title, Distinguished Professor, is conferred by the University of Manitoba on academic staff members who have demonstrated outstanding distinction in research, scholarship, creative endeavours, professional service and teaching.
Up to three people may receive this honor each year, and not more than 25 full-time professors may hold the title at one time.

Congratulations Jim!


    
April 24, 2019

Congratulations to Dr. Tamra Werbowetski-Ogilvie


Credit: David Lipnowski and Chui Choy

on her publication titled "A nexus of medical discovery" in Nature Research as part of a series on the "Spotlight in Canada".
https://www.nature.com/collections/fggdgifjia

Nature Research is very highly regarded in the research community and publishes academic journals, magazines, online databases, and services in science and medicine.

Congratulations Tamra!


  
April 1, 2019

Congratulations to Selina Casalino

on receiving the CIHR Canada Graduate Scholarships-Masters (CGS-M)!
The CGS M Program provides financial support to high-calibre scholars who are engaged in eligible master’s programs in Canada.


   
March 22, 2019

Congratulations to Qian Liu

who won Best Oral Presentation at the 2019 IEEE 7th International Conference on Bioinformatics and Computational Biology, held in Hangzhou, China.
Congratulations Qian!


   
March 21, 2019

Thank you Zahra Sepehri

who delivered a presentation on Nowruz, which is the start of the new year based on the Persian calendar and is literally translated as “new day” in Farsi. Iranians traditionally gather around a “Haft-Seen”, which is the traditional table setting to bring in the new year and the new beginnings of spring. Zahra also brought sweets and shared the traditional dance with the department.

Happy Nowruz!


   
March 18, 2019

Congratulations to the following

 Jahan S, Beacon TH, He S, Gonzalez C, Xu W, Delcuve GP, Jia S, Pingzhao Hu, James (Jim) R. Davie

who had their new article published in the journal "Gene" with the title "Chromatin organization of transcribed genes in chicken polychromatic erythrocytes."
Gene is a peer-reviewed scientific journal in genetics and molecular biology, focusing on the cloning, structure, function, as well as the biomedical and biotechnological importance of genes.

https://www.ncbi.nlm.nih.gov/pubmed/30858137


   
March 8, 2019

Congratulations to Berardino Petrelli

who made the finals for the 3 Minute Thesis (3MT). The finals are being held on March 18, 2019.
Best of luck Berardino!

http://umanitoba.ca/faculties/graduate_studies/3mt/finalists.html


  
February 22, 2019

Congratulations and best wishes

to Berardino Petrelli and Taryn Athey who have been accepted for the Three Minute Thesis (3MT) Competition. The initial heats are taking place next week and Berardino and Taryn will be presenting between 12:15-2pm on February 27th in Theatre A, BMSB.

More information can be found at the 3MT website.


  
January 21, 2019

Congratulations to Dr. Francis Amara 

for his science outreach in Sierra Leone and University of Manitoba article recently published in UM Today News. The STEM centre in Sierra Leone will educate senior high school students while training teachers.

“If we’re able to train the teachers to train the next generation of doctors and researchers, they can work toward relying on themselves, rather than on other countries.”

Find the full article in UM Today News here


  
January 14, 2019

Congratulations to Dr. Lisa Liang

Successful Doctor of Philosphy Defense
(Supervisor: Dr. Tamra Ogilvie)

Titled: “Functional characterization and selective targeting of CD271+ cells in SHH medulloblastoma”


  
December 12, 2018

Congratulations to Amandeep Singh

Successful Master of Science Defense
(Supervisor: Dr. Spencer Gibson)

Titled: “Investigating the role of nuclear BNIP3 in regulation of cellular proliferation”


  
November 28, 2018

Congratulations to Faculty of Graduate Studies Award Recipients

who were acknowledged and awarded for their various Manitoba Graduate Scholarship, CIHR, Research Manitoba, and Dean of Graduate Studies Student Achievement Award.
A list of award winners can be found at the Awards and Achievements webpage.


  
November 26, 2018

Congratulations to Shayan Amiri

Successful Master of Science Defense
(Supervisor: Dr. Mojgan Rastegar)

Titled: “Investigating the effect of continuous ethanol exposure on differentiated neural stem cells; a study for potential FASD biomarkers”


  
November 19, 2018

Congratulations to Shervin Pejhan

Successful Master of Science Defense
(Supervisor: Dr. Mojgan Rastegar)

Titled: “Investigating the MeCP2 (E1/E2) Regulatory Network in the Human Control and Rett Syndrome Brain”


  
October 26, 2018

Congratulations to Dr. Barb Triggs-Raine

Dr. Brian Postl, Dean, Max Rady College of Medicine and Dean, Rady Faculty of Health Sciences is pleased to announce the appointment of Dr. Barbara Triggs-Raine as the Department Head of Biochemistry and Medical Genetics, Max Rady College of Medicine.

Dr. Triggs-Raine’s appointment starts on November 1, 2018 on a five-year term.

The full announcement from the Deans' office can be found here.

Also congratulations and thank you to Dr. Louise Simard who has served the past 12 years as Department Head for Biochemistry and Medical Genetics and was instrumental in the recent development of the new MSc Genetic Counselling Program!  


  
September 25, 2018

Kudos to Claire Morden

current masters student working in Dr. Kirk McManus' lab (co-supervised by Dr. Mark Natchtigal), who will be shaving her head and donating a foot and a half of her hair. She is fundraising for CancerCare Manitoba Foundation and is asking for your support in helping her reach her goal of raising $1000! Every donation – no matter how big or small – is welcome and appreciated. Donations can be made online by following the link provided below.

If you are unable to support through a donation or would like to show your support in person, all are welcome to join while Claire shave's her head on October 19th, at 2pm in the Thompson Rm (ON6005 located in CancerCare).

http://support.cancercarefdn.mb.ca/site/TR/communityevents/General?pg=team&fr_id=1225&team_id=2933


  
July 2, 2018

Congratulations to Dr. Francis Amara

on his visit and outreach activity:

Foldscope Microscopy and Digital Imaging
Science  teachers in Kenema, Eastern Province, Sierra Leone were trained how to assemble and use the Foldscope microscope and capture images using their mobile phones. The teachers are expected to train their colleagues in the use of the Foldscope microscopes.

Through an NGO called Kenema Global Science and Medicine Philanthropy Network, Dr. Amara decided to help the country rebuild its science education by developing the Millennium STEM Centre. This is also a way of “giving back” to the community where he started his academic journey. This centre will serve to promote teaching and learning in STEM education across the continuum from primary to middle and secondary school. It will serve to renew, and improve the quality of, science education. Specifically, it will impact about 500 current and future science teachers within 3 years.
 
Activities at the centre will focus on professional development of science teachers to apply evidence-based teaching practices and active learning; providing access to STEM instructional materials; providing laboratory equipment and experiences; and creating international partnerships.


  
June 26, 2018

Congratulations to Dr. Laura Thompson

Successful Doctor of Philosphy Defense
(Supervisor: Dr. Kirk McManus)

Titled: “An Image-based Screen Identifies SKP1 as a Novel Chromosome Instability Gene” 


May 15, 2018


Congratulations to Dr. Sanzida Jahan

on being awarded the Best Poster at the 5th Annual University of North Dakota Epigenetics and Epigenomics Symposium


      
April 25, 2018

 
Congratulations to Dr. Brent Guppy and Stephen Cheng

on being awarded the William Donald Nash Brain Tumour Research Fellowship, for his project Enhancing selumetinib-mediated killing of SHH medulloblastoma. The award spans from July 2018 to June 2020.

Also from Dr. Tamra Werbowestki-Ogilvie's lab, is high school student Stephen Cheng, who won a gold medal in the Health and Biotechnology category Senior level at this year's Manitoba Schools Science Symposium. He also won the Best Individual in Health and Biotechnology for Senior level.

Stephen was also awarded 2nd place at Sanofi Biogenius provincial science competition for his project "A novel drug therapy used to reduce cell motility in pediatric Sonic Hedgehog medulloblastoma tumours".
http://news.umanitoba.ca/biodegradable-plastic-research-wins-sanofi-biogenius-provincial-science-competition/?utm_source=waag&utm_medium=email&utm_term=eighth


    
April 2, 2018


Congratulations to the CIHR Graduate Scholarship Winners at the Masters Level




which BMG captured 5 out of 9 scholarships

Marjorie Buist with Dr. Mojgan Rastegar
Rachelle Dinchong with Dr. Patrick Frosk
Angela Krutish with Jessica Hartley
Ashleigh Hansen with Dr. Francis Amara
Chloe Lepage with Drs. Kirk McManus & Mark Nachtigal


  

February 27, 2018


Congratulations to Sandhini Lockman, Ashleigh Hansen, and Nivedita Seshadri




who were among the 3MT® 2018 Challengers

Nivedita did her MSc in our department and is pursuing her PhD in Physiology & Pathophysiology.

They competed in Heat 2 on Tuesday, February 27, 2018 at the Frederic Gaspard Theatre (previously Theatre A).
Details on the 3MT can be found at http://umanitoba.ca/faculties/graduate_studies/3mt/challengers.html  


  
December 19, 2017

Congratulations to Dr. Vichithra Rasangi Batuwita Liyanage

Successful Doctor of Philosphy Defense
(Supervisor: Dr. Mojgan Rastegar)

Titled: “Regulation of the Master Regulator of the Brain' - Intrinsic and Extrinsic Regulation of MeCP2 in Brain Cell Types and Their Implications in MeCP2-Related Neurodevelopmental Disorders”


  
December 11, 2017

Congratulations Dr. Kiran Sharma

recipient of a travel award. Dr. Sharma was presented the award at the 4th Canadian Conference of Epigenetics: Mechanisms of Disease in Whistler, British Columbia from November 26-29, 2017. 

Titled: “EGF induced nucleosomal response pathway and transcriptional programming in cancer".

Congratulations Kiran!


  
November 17, 2017

Congratulations to Naimul Hasan

Successful Master of Science Defense
(Supervisor: Dr. Barbara Triggs-Raine)

Titled: “Characterization of Mutations and Phenotypes Associated with HYAL2 Deficiency”


  
November 7, 2017


Congratulations to Sanzida Jahan

Successful Doctor of Philosphy Defense
(Supervisor: Dr. James Davie)

Titled: “Characterization of transcriptionally active chicken erythrocyte chromatin”


  
November 7, 2017


Genetic Counselling Program Open House

We look forward to meeting with prospective Genetic Counselling Program applicants on November 7th!


    
November 1, 2017


Congratulations to Undergraduate Poster Competition winners

Michaela Palmer - 1st place overall in the category of Health Sciences
Co-op student supervised by Dr. Kirk McManus and Dr. Mark Nachtigal

Meriam Salih - 2nd place overall in the category of Health Sciences
Summer Student supervised by Dr. Mark Nachtigal and Dr. Gilbert Arthur


  
October 13, 2017


Congratulations to Berardino Petrelli

 

Successful Master of Science Defense
(Supervisor: Dr. Geoff Hicks)

Titled: “Retinoic Acid Deficiency during Gastrulation Induces Craniofacial Malformations in mouse resembling Fetal Alcohol Syndrome”


  
October 3, 2017


Congratulations to Dr. Cheryl Greenberg

on being inducted into the Canadian Medical Hall of Fame in the category of Leadership in Health Promotion, Illness Prevention and Care.
The Canadian Medical Hall of Fame recognizes and celebrates Canadian heroes whose work has advanced health, here and around the world.

the full UM Today article can be found at: http://news.umanitoba.ca/dr-cheryl-rockman-greenberg-inducted-into-canadian-medical-hall-of-fame/
Congratulatory Announcement from Dr. Terry Klassen

The video tribute as part of Dr. Rockman-Greenberg's induction can be found at: https://www.youtube.com/watch?time_continue=38&v=x1jF9cDa89k


  
October 2, 2017


Congratulations Jessica Hartley

 

on her Professional Practice Advocacy and Innovation Leadership Award presented by the Canadian Association of Genetic Counsellors!


  
August 30, 2017


Congratulations to Dr. Barb Triggs-Raine and Dr. Cheryl Greenberg

on their recent article in the Winnipeg Free Press related to patients living with rare genetic diseases.

The full article can be found at: https://www.winnipegfreepress.com/local/many-questions-few-answers-448689583.html


September 14, 2017


The BMG Student Council has been selected for this year:

President: Lucile Jeusset
Vice President: Nicole Wilkinson
Mentorship Program Assistant: Sandhini Lockman
HSGSA Student Representative: Chloe Lepage
Social Committee: Sasha Blant and Manisha Bungsy

Congratulations to all the BMG Student Council representatives!


  
September 14, 2017


Congratulations to Dr. Patrick Frosk

on his recent article in the Winnipeg Free Press and making the first diagnosis of the rare condition "NGLY1" in Manitoba.

The full article can be found at: http://www.cbc.ca/news/canada/manitoba/ngly1-rare-genetic-disorder-manitoba-1.4288200


  
August 30, 2017


Farewell and congratulations to Dr. Biswajit Chowdhury

on his new position as a Post-Doctoral Fellow at St. Michael's Hospital in Toronto, ON.
Dr. Chowdhury has been in Dr. Triggs-Raine's lab since 2008.

Congratulations Jit!


  
August 24, 2017


Benefits of Sabbaticals


Dr. Wrogemann has often emphasized the importance and benefits of taking Research Study Leaves (sabbaticals) at top institutions to make quantum leaps in competency of one’s own research field. An example is his most recent sabbatical he spent at the Max Planck Institute for Human Molecular Genetics in Berlin. Two papers using exome sequencing for the identification of intellectual disability genes have been singled out by WEB of Science as “highly cited” or “hot papers” respectively. An article in Nature was cited often enough to place it in the top 1% of the papers in the field of Molecular Biology and Genetics (Nature 478: 57-63 (2011)). An article published in Molecular Psychiatry was labelled a “hot paper” as it received enough citations to place it in the top 0.1% of papers in the field of Neuroscience and Behavior (Molecular Psychiatry 21: 133-148 (2016)).


  
August 21, 2017

The Total Solar Eclipse

 

of August 21, 2017 was a total eclipse which was briefly visible through the clouds outside of the Basic Medical Sciences building. Thanks to Dr. Geoff Hicks for providing this picture!


  
August 14, 2017

Congratulations to Anna Blankstein

Successful Master of Science Defense
(Supervisor: Dr. Spencer Gibson)

Titled: “Siramesine and lapatinib induce synergic cell death via a ferroptotic mechanism in lung adenocarcinoma and glioblastoma cells"


  
August 8, 2017


Congratulations to Miriam Derksen

Successful Master of Science Defense
(Supervisor: Dr. Spencer Gibson)

Titled: “Investigating the Effects of Acute Oxidative Stress on the Expression, Localization and Activity of Cell Death Regulatory Protein BNIP3”


    
August 5, 2017


Congratulations to Dilshad and Zinnatun Khan

 

on welcoming their new baby boy, Zanid Nabi on Saturday, August 5th at 9:21pm. Zanid Nabi is doing well and settling in at home.


    
July 27, 2017

Congratulations to Veronica Lau

 

Successful Master of Science Defense
(Supervisor: Dr. Jim Davie)

Titled: “The role of transcription and splicing on histone H3 lysine 4 trimethylation dynamics ”


    
July 25, 2017

Congratulations to Margaret Stromecki

Successful Master of Science Defense
(Supervisor: Dr. Tamra Ogilvie)

Titled: “Characterization of a novel OTX2-driven stem cells program in Group 3 and Group 4 medulloblastoma”


  
July 18, 2017


Congratulations to Angela Krutish

on receiving the University of Manitoba Graduate Fellowship.

Congratulations Angela!


  
July 17, 2017


Congratulations to Ifeoluwa Adewumi

 

Successful Master of Science Defense
(Supervisor: Dr. Jim Davie)

Titled: “TNF-alpha gene signature in triple-negative breast cancer cells”


  
July 12, 2017


Congratulations to Sasha Blant

 on receiving the President's Graduate Scholarship in Human Genetics. The scholarship is presented to a Graduate student writing a thesis in any area of human genetics.

Congratulations Sasha!


  
June 19, 2017

Congratulations to the 2017 Research Manitoba Award Winners
 

 

Fadumo Osman, MSc student with Dr. Jim Davie
Amandeep Singh, MSc student with Dr. Spencer Gibson
Jamie Zagozewski, PhD student with Dr. Tamra Ogilvie


  
June 16, 2017


Congratulations to Selina (Chen) Chi

Successful Master of Science Defense
(Supervisor: Dr. Pingzhao Hu)

Titled: “Recurrent Copy Number Alteration Analysis Identifies Risk Genes in Young Women with Breast Cancer”


  
June 15, 2017


Congratulations to Dr. Jim Davie

for being among the top 10 cited papers in Molecular Biology in 2006 as stated by Google Scholar.
The paper titled "Histone H4-K16 acetylation controls chromatin structure and protein interactions" has been cited over 1400 times.

for being among the top 10 cited papers in Molecular Biology in 2006 as stated by Google Scholar. The paper titled "" has been cited over 1400 times.

    
June 7, 2017

Congratulations to Lisa Liang

 

on receiving the Sheu L. Lee Family Scholarship in Oncology award. This University of Manitoba award is presented to a Graduate student in the area of Oncology research representing the laboratory/clinical sciences.

Congratulations Lisa!


  
May 28, 2017


Thank you volunteers

 

which included faculty, staff, and students of the Biochemistry and Medical Genetics department who volunteered their time to the Children's Hospital Foundation of Manitoba's 31st Teddy Bears' Picnic Sunday, May 28th, 2017 at Assiniboine Park.
Volunteers greeted and assisted children throughout the day in the Dr. Goodbear tent within the Teddy's Family Tree station.

Thank you volunteers and to the Program of Genetics and Metabolism for helping organize!


     
May 12, 2017


Congratulations Dr. Tamra Werbowetski-Ogilvie

 

on the renewal of her Tier II, 2017 Canada Research Chair (CRC) in Neuro-oncology and human stem cells.
 This research will lead to the development of new biomarkers and treatment targets for malignant brain tumours, with the goal of halting the spread of these devastating diseases.


   
May 11, 2017


Congratulations Dr. Svetlana Frenkel

 

on winning the “Poster of Distinction” award at American Gastroenterological Association’s (AGA) Digestive Disease Week in Chicago on the weekend of May 6th.
The award was for her research titled "Rare copy number variations associated with inflammatory bowel disease".


   
May 9, 2017

 
Congratulations to the CCMB 19th Annual Research Day Award Winners 

 

Basic Science Oral Presentation:
1st Place: Lisa Liang, PhD student with Dr. Tamra Ogilvie
2nd Place: Lucile Jeusset, PhD student with Dr. Kirk McManus
3rd Place: Lexi Ciapala, MSc student with Dr. Spencer Gibson

Basic Science Poster:
3rd Place: Laura Thompson, PhD student with Dr. Kirk McManus

Best Cell Biology Oral Presentation
Lucile Jeusset, PhD student with Dr. Kirk McManus

Arnold Portigal Award
Laura Thompson, PhD student with Dr. Kirk McManus

Prizes are awarded to the top 3 trainee presentations in both oral and poster presentations for those studying basic sciences.


    
May 5, 2017


Congratulations Dr. Tamra Werbowetski-Ogilvie

 

The YMCA/YWCA Women of Distinction Awards Gala was held May 3rd, 2017; Dr. Tamra Werbowetski-Ogilvie was nominated in the category of Science, Technology & Research.
The competition was impressive and the award went to our esteemed colleague, Dr. Joanne Embree, past Head of the Department of Medical Microbiology.

Congratulations to Dr. Embree and all the nominees!


  
April 7, 2017


Congratulations to Dr. Jim Davie

 

who has been identified as the Canadians for Health Research (CHR) Researcher of the Month in their April Issue.
More information can be found on the CHR website: http://www.chrcrm.org/en/researcher-month

Congratulations Jim, much deserved!


  
April 7, 2017


Congratulations Dr. Tamra Werbowetski-Ogilvie

 

on her recent nomination for the 2017 YMCA-YWCA Women of Distinction Awards in the category of Science, Technology and Research.
Stay tuned, the award winners will be announced May 3, 2017!


  
March 20, 2017


Congratulations to Lisa Liang

 

on receiving the 2016-17 Nancie J. Mauro Graduate Scholarship in Oncology Research. This award is for the most outstanding University of Manitoba Graduate students in the area of Oncology research.

Congratulations Lisa!


  
March 9, 2017


Congratulations to the Miriam Derksen and Alexandra Ciapala

 

and the 10 other finalists that made it to the Three Minute Thesis (3MT) Competition Final held March 8, 2017.

BMG was represented by two finalists. Miriam Derksen was first to present and she set the bar extremely high; congratulations Miriam!
The judges deliberated and the People’s Choice and the Dr. Archie McNicol Prize for First Place went to Rachel Nickel (MSc, Physics and Astronomy), Second Prize went to Alexandra Ciapala (MSc, Biochemistry and Medical Genetics), and Third Prize went to Colin Graydon (PhD, Medical Microbiology and Infectious Diseases).

Congratulations Alexandra on your win, job well done!

For the full UManitoba news article, visit http://news.umanitoba.ca/seeking-out-innovative-ways-to-help-enhance-lives-3mt-final-showcases-research-from-grad-students/


    
February 15, 2017


Congratulations to Dr. Cheryl Rockman-Greenberg

 

on being awarded the 2017 Founders Award presented by Clinical Genetics and Metabolic Disorders. The award in recognition of outstanding contributions to Canadian medical genetics and an outstanding career in medical genetics in Canada or abroad.


    
February 2, 2017


Congratulations to Dr. Francis Amara

 

on his nomination for a 2015-16 Manitoba Medical Students' Association (MMSA) Teaching Award. The distinction recognizes Dr. Amara as an educational leader and trailblazer. The 7th Annual Teacher Recognition and MMSA Awards Dinner will be held on Tuesday, March 7 at 5:30pm in the Brodie Centre Atrium.


  
January 24, 2017


Congratulations to Yasamin Asbaghi
 

 

Successful Master of Science Defense
(Supervisor: Dr. Kirk McManus)

Titled: “KIF11 Silencing and Inhibition Induces Chromosome Instability in Human Cells”


  
January 16, 2017


Congratulations to members of the Dr. Triggs-Raine lab on their recent publication

 

PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler MM1, Chowdhury B2, Hasan SN2, Cross HE3, Mark B4, Harlalka GV1, Patton MA1,5, Ishida M6, Behr ER7, Sharma S7, Zahka K8, Faqeih E9, Blakley B10, Jackson M11, Lees M12, Dolinsky V13,14, Cross L15, Stanier P6, Salter C16, Baple EL1, Alkuraya FS17,18, Crosby AH1, Triggs-Raine B2,14,19, Chioza BA1.

Abstract
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix. Transfection assays demonstrated that the gene mutations destabilize the molecule, dramatically reducing HYAL2 protein levels. Consistent with the clinical presentation in affected individuals, investigations of Hyal2-/- mice revealed craniofacial abnormalities, including submucosal cleft palate. In addition, cor triatriatum sinister and hearing loss, identified in a proportion of Hyal2-/- mice, were also found as incompletely penetrant features in affected humans. Taken together our findings identify a new genetic cause of orofacial clefting in humans and mice, and define the first molecular cause of human cor triatriatum sinister, illustrating the fundamental importance of HYAL2 and hyaluronan turnover for normal human and mouse development.