First described by Dr. Jaak Jaeken in 1980, Congenital Disorders of Glycosylation (CDG) are a rare group of genetic disorders that result in faulty glycosylation. Glycosylation is the cellular process of adding sugar chains to proteins by means of enzymes and this pathway is necessary for the normal growth and function of cells, tissues, and organs. Traditionally there have been two types of CDG recognized (type I & type II). The newer declycosylation disorder (NGLY-1) is now also recognized. (see NGLY-1 New Yorker article.) Approximately 1000 individuals worldwide have been diagnosed with CDG type I. To date, fifteen subtypes of CDG-I have been identified. Seven children have now been diagnosed with subtype CDG-1L (ALG9-CDG). Maria is one of them. Features common to most CDG subtypes are failure to thrive, developmental delay, hypotonia, and seizures. Some subtypes have more unique characteristics such as liver disease, clotting disorders, or cystic kidneys.
In January 2011, Maria's father, a medical microbiologist, attended the fourth annual International Meeting on CDG in Leuven, Belgium. Here he learned about diagnostic testing for CDG and the relevant cellular pathways. Maria's father was encouraged by the advancements that have been made by researchers who were present at the conference. However, there are many ongoing studies pertaining to the most common CDG subtypes but far less research is being conducted on rarer subtypes, like Maria's ALG9-CDG enzyme deficiency. Additionally, it is generally suspected that CDG is underdiagnosed in children. Given this, Maria's father and family established Foundation Glycosylation (the FoG), with assistance from the Saint John Regional Hospital Foundation. The FoG supports CDG research, raises awareness of the disorder, and advocates for individuals who have these rare enzyme deficiencies.
Foundation Glycosylation research initiatives have been welcomed by local researchers at the University of New Brunswick and Dalhousie Medical School. Furthermore, well established CDG investigators in the United States and Europe have embraced the opportunity for collaborative research projects. The FoG has recently hired a full time research technologist, Dr. Lester Perez, who is developing an ALG9 deficient zebrafish model. Using enzyme deficient models, like Danio rerio (zebrafish) and Saccharomyces cerevisiae (yeast), it is our hope that CDG therapies can be identified through experiments that rescue mutant phenotypes. Glycosylation is an essential process for normal human function. A greater understanding of glycosylation will have an impact in many areas of biology -- including immunology, infectious diseases, hepatology, and opthalmology -- and improve the lives of children and their families who are impacted by CDG and various other enzymatic disorders.
In 2014, Mollie McGuire was hired by the FoG to work as a student intern. During her time with the FoG she published an article in the Dalhousie Medical Alumni Association magazine VoxMeDal. This article below outlines the FoG initiative and the collaborative research being guided by Dr. Thomas Pulinilkunnil and Dr. Petra Kienesberger.
McGuire, Mollie. 2014. A Labor of Love for a Parent and Physician. VoxMeDAL: 34-35.
Connection to Maria: Andrea was Maria's speech pathologist during her preschool years (October 2007 - July 2011).
About Andrea:Andreaenjoys spending time with her family: husband Joe, daughters Maddie and Emma, and miniature golden doodle Fundy. They enjoy camping, hiking, going to movies, and traveling. Her daughters are very involved with competitive dance and drama and so she keeps busy making costumes and attending competitions. Andrea also enjoys running, walking, and reading. She is actively involved with the Beta Sigma Phi Sorority Group and with the United Church of Canada in her hometown of Hampton.
Connection to Maria: Krista had the pleasure of working with Maria and her family as Maria’s Occupational Therapist during her preschool years.
About Krista:Krista enjoys spending time with her husband, Rorri, and their two children, Jillian and Liam. In her spare time, Krista can be found at sports fields cheering on her kids as they play baseball and soccer. Krista also enjoys walking their black lab Mira, camping, reading, and spending time with her friends.
Connection to Maria: Becca is Maria's cousin and worked as the Research and Development Coordinator for the FoG in 2011.
About Becca: Becca graduated from Acadia University in May 2013 after completing her BSc. (Hons). She was the President of the Acadia Grad Class of 2013 and was involved in a wide variety of extracurricular and volunteer activities. She is passionate about work in the field of global health and is heavily involved with the organization Global Brigades. Becca is currently a medical student at Memorial University of Newfoundland.
Becca also received top marks on her Honours Thesis, "Electrophysiological Assessment of Language in a Child with Congenital Disorder of Glycosylation: A Case Study," in which Maria was the subject. You can find the full document here.
Connection to Maria: Jillian was a summer student for the FoG in 2012.
About Jillian: Being involved with the FoG was a wonderful experience for Jill. Her duties included maintaining the FoG website and incoming donations, fundraising, and researching a disease model for ALG12. She started a Penny Drive in the Saint John/Quispamsis region and was able to raise $500 for the FoG! Jillian also prepared and organized the letter campaign, one of the FoG's largest annual fundraisers. She loved meeting Maria and being involved with the foundation. Jill completed her undergraduate biochemistry degree at UNB Fredericton.
Connection to Maria: Brandyn was a summer student researcher for the FoG in 2013.
About Brandyn: In his third year of medical school at Dalhousie Medicine New Brunswick, Brandyn worked on various research projects for the FoG including: Protocol setup for Fluorophore Assisted Carbohydrate Electrophoresis (FACE), validation of ALG9 presence in yeast and mammalian tissues using Western Blots, and an ALG12 yeast mutant growth study. In his free time Brandyn likes to spend time with his wife, socialize with friends, and play softball and ice hockey.
Connection to Maria: Tess was a FoG summer student researcher in 2014. She, along with Alyson, studied the effects of ALG9 gene mutations on diseased yeast models and worked on optimizing a protocol using differential centrifugation to isolate ER from the diseased models for future carbohydrate fingerprinting. She worked under the supervision of Dr. Thomas Pulinilkunnil and Dr. Petra Kienesberger at the Dalhousie Medical School in Saint John.
About Tess: Tess graduated from Mount Allison University in May 2015 with honours in biochemistry. She is actively involved in a variety of volunteer and extracurricular activities through her school and community. As a member of Health Care Outreach, a studentled community outreach group, and as president of Global Brigades Mount Allison, Tess has developed a passion for sustainable community and global development. Tess is currently in the process of applying to Dalhousie Medicine New Brunswick.
Connection to Maria: Alyson was a FoG summer student researcher in 2014. She worked alongside Tess Robart researching for the FoG.
About Alyson: Alyson graduated from Western University in May 2015 with a BSc. (Hons) in Psychology with a minor in Pharmacology. Her involvement at Western and in the London community has been diverse over the past few years. She has competed and managed the women’s rugby team, has been involved in clubs and intramural basketball, and has volunteered to better the lives of vulnerable members of the London community. She is currently the Director of Community Support Volunteers at a non-profit organization called CONNECT for Mental Health. Alyson is passionate about work in the field of mental health and plans to pursue graduate studies in Psychiatric Research.
Connection to Maria: Kiera was a FoG summer student in 2014. She worked with Anita, Maria's mother, in assisting with Maria's daily activities. Kiera also worked on the FoG website helping to keep pictures and videos updated.
About Kiera: Kiera is in the process of completing her Biology degree (Honours) at the University of Ottawa with future plans to apply to medical school. She enjoyed working for the FoG and having the opportunity to meet and work with Maria and hopes to continue working for the foundation. Throughout the school year, she is involved in many activities including volunteering for the Health Services at her university. She also enjoys swimming and giving lessons at the pool for the Making Waves Swim School.
Connection to Maria: Nicolas was a FoG summer student in 2014. He worked on and updated the FoG website. Nicolas also helped organize and coordinate the third annual FoG Cup in May 2014 which is a fundraising event to support research on Congenital Disorders of Glycosylation. He was also responsible for ordering merchandise to be sold at the event.
About Nicolas: Nicolas graduated from Acadia University in May 2015 and is currently applying to medical school. He has a BSc with a major in Biology and a double minor in Chemistry and French. Throughout his undergrad, Nicolas volunteered for the Acadia S.M.I.L.E. (Sensory Motor Instructional Leadership Experience) program helping children with disabilities improve motor, cognitive, and social skills. During his summers Nicolas works for a local construction company and volunteers at the Saint John Regional Hospital. During his free time he enjoys playing guitar, fishing, and being outdoors on his ATV.
Connection to Maria: Luke was aFoG summer student in 2014. Luke helped maintain the FoG website.
About Luke: Luke has a Bachelor's degree with a major in Environmental Science and a minor in Mathematics from Mount Allison University. Retiring temporarily from academics, Luke currently serves as a bartender and enjoys a variety of hobbies including golf, fishing, and hiking. At school, Luke was heavily involved in intramural sports and enjoyed volunteering at Mount Allison's S.M.I.L.E. (Sensory Motor Instructional Leadership Experience) program. Similarly, Luke’s participation with non-typical developing children included a summer work term at the Stepping Stone Regional Speech Pathology Clinic in Saint John.
Connection to Maria: Andrew was a FoG summer student in 2015. He helped maintain the FoG website and assisted with various other projects.
About Andrew: Andrew graduated in 2015 from Amherst College in Massachusetts where he majored in biology. At school Andrew played four years of NCAA collegiate ice hockey. During his undergrad, he was also heavily involved with the Big Brothers Big Sisters program, served as a Resident Counselor, and volunteered regularly at a nursing home. Andrew began medical school at Memorial University of Newfoundland in the fall of 2015.
Connection to Maria: Justin was the FoG Summer Student for 2016. He worked on Rare Disease awareness, Organized the 5th Annual FoG Cup and assisted Dr. Lester Perez in the Dalhousie Medicine New Brunswick Laboratory.
About Justin: Justin is currently pursuing a Biochemistry and Molecular Biology degree with a minor in Economics from Dalhousie University in Halifax. He is hoping to move forward with CDG research in his honours studies. Originally from Oakville, Ontario, Justin spent his summer living in Quispamsis, NB and enjoyed exploring the province; from its golf courses to its cottage life. Back at school Justin volunteers at the QEII health centre and participates in various intramural sports.