Panelist

Adamastor Kammler

The conference is important to bring families and researchers together. With this, the research gains in practical basis and the families gain in new knowledge.

Alicia Fazakas

I believe the world CDG congress is the only way to raise awareness of all these rare diseases, vital for networking & information sharing, and to begin research and ultimately finding cures for our rare children all over the world 🌎

Alison Slade

Allison Hartnett

As the older sister of someone with CDG, I want to participate in this panel to discuss how we can reduce the isolation of families and CDG patients in clinical and psychological/social settings. I am an assistant professor of political economy who works on inequality of access, in large part informed by my family's experience of structural inequalities facing disabled Americans

Amy Dann

The World Conference of CDG is important to our family and the wider CDG community to ensure that we are all up to date with the latest developments in research and treatment options. This allows us to provide Louis and all people with CDG, the highest quality care and life we can. Furthermore, connecting with the wider CDG community is paramount to raising a child with CDG. Having the support of fellow parents, clinicians and other CDG personnel help make the journey enjoyable and enlightened.

Ana Sánchez

I'd love to take part in the conference, it's a welcome opportunity to learn more about CDG. Listening to how other families deal with their own issues and experiences can help me reduce the impact this illness has on our daily life

Ananias Gonzalez

The Conference means to my family, above all, finding out we are not alone and there is hope for research about CDG.

Andrea Miller

The World CDG Congress is the opportunity for patients, professionals and industry to come together to share knowledge, experiences, and discuss common issues of patients living with CDG. Through this unique platform, an inclusive collaborative infrastructure is developed which enables medical professional and families to unite and enhance CDG research, knowledge, and therapeutic treatment strategies for our global community

Andrew C. Edmondson

The World CDG Conference is an amazing opportunity to partner with various stakeholders to identify solutions with high impact toward meaningfully improving CDG patient health.

Ashleigh Linthicum

Being a part of this conference gives a voice to families like mine that have struggled to be heard and understood medically because this disorder is so rare. Having lost a child to PIGN, were a bit different than most families because Holly’s life was nothing but a fight for care and credibility, because of the rarity of her (then unknown) disorder.

Begoña Alonso

Sobre la pregunta: ¿Por qué un congreso mundial es importante para familias y profesionales? Pues básicamente lo que se me ocurre es porque al ser una enfermedad tan minoritaria la única forma de unir fuerzas es a través de los conocimientos y experiencias repartidos a lo largo del planeta. Más allá de nuestras nacionalidades y culturas es lo que nos une, un enigma y una lucha por el bienestar de nuestros seres queridos. Al reunirnos y debatir propuestas nos sentimos menos sol@s y más conectad@s a nuestra humanidad compartida, lo cual se expresa a través de la vulnerabilidad que supone cuidar y crecer de esta enfermedad genética. También creo que nos ayuda a aprender más unas personas de otras y unas familias de otras porque sabemos que la tarea de cuidar a las personas con CDG nunca termina y necesitamos todas las herramientas posibles para seguir adelante. También porque las personas con CDG necesitan sentir que son valiosas, que sus metas son importantes y que pueden alcanzar el prefeito grado de autonomía que les sea posible. Bueno, me imagino que esto va más allá de un congreso y tiene más que ver con tejer una red de apoyo.

Begoña Nafría

The CDG World Alliance is a paramount example of the real meaning of patient-centric research on the rare diseases field. My professional commitment is to ensure that patients are at the heart of research. It will be a pleasure to share my experience in your event but especially learn from the CDG Community. Together we are stronger.

Bobbie List

We attended our first conference when Danielle was around 4 years old. At that time, she had significant health issues and we had so many questions about what her future would hold. We got to meet other families with older children, who were paving the way for the younger ones. It gave us hope. We were fortunate to attend the conference in San Diego in February 2020. It had been 16 years since our previous conference and we were amazed at all of the progress that had been made with identifying the different subtypes of CDG, as well as the therapies and research that were going on world wide. But, once again, it was the dialogue with other families about the day-to-day challenges that we face that we learned the most from. You get to know the families and you are excited to celebrate all of those little milestones collectively as a global family. The conferences allows for that bonding and sharing.

Bobby NG

The conference is very important to me because it provides information for both the families and the research communities, we need each other in order for all of us to move forward.

Brea McClain

My hope is that the World CDG Conference will bring hope and refreshment for caregivers in a year that has left us all exhausted and worried.

Carla G. Asteggiano

Congenital Disorders of Glycosylation Program for Diagnosis and Research in Latin American countries.

With great effort, we organized the first (2010) and second (2014) Latin American CDG symposiums. Almost a hundred attendants and referential professors enjoyed an event that motivated us to continue growing and sharing our knowledge and experience. Now, we are engaging and improving our clinical and technical capacities, including a database of referral centers (national and abroad), looking for analytical equipment for more sensitive CDG confirmatory tests. We are now in a new virtual community that needs a global project targeting new therapies for CDG patients to improve their life.

Carlota Pascoal

Attending the World Conference on CDG is such a great opportunity to have access to the most up-to-date information on CDG directly from the Experts in the field as well as connect with and learn from other families in a sharing, friendly environment.

Catarina Teixeira

For me, this conference is particularly important because it will give me the opportunity to learn more deeply about different aspects of CDG, to discover what is being done for the patients and their families, and what is still not being dealt with that would be important to invest in. I think it will be a great opportunity to meet the work that is being done around the world, exchange knowledge and develop a deeper understanding of these diseases.

Cátia Neves

The World CDG congress is a time to share, learn and understand CDG needs and challenges. It is a special moment to create a link with the CDG community.

Cecilia D´Alessio

I consider the conference relevant to bring together families, physicians and researchers, and to identify the most challenging problems patients face and, as a researcher, to focus on finding solutions.

Chema Fernández

The World Congress on Congenital Glycosylation Disorders (CDG) is a great and unique opportunity to bring together people from different fields, all interested in providing better knowledge about the underlying molecular bases and diagnostic tools for this group of rare diseases, which will allow the development of better therapeutic approaches. In particular, my research group is interested in understanding the involvement of ion channels in the development of different neurological disorders associated with CDG, with the main focus on cerebellar syndrome and stroke-like episodes, in order to provide new therapeutic targets for these serious neurological alterations.

Christian Thiel

The World CDG Congress mediates the encounter between physicians, basic researchers and patients and encourages essential exchange among each other

Claudia Graetsch

The CDG World conference is a unique and incredible experience for both medical professionals and rare disease families to come together and share experiences, gain knowledge and to feel part of a community.

Dafne Horowitz

Having a meeting where families, physicians and scientists meet is a unique opportunity to join forces, learn, exchange ideas and to, ultimately, lead to a better life for all those touched by CDGs.

Daniel Lewi

Daniel Lewi has first-hand experience of caring for a family member with a rare disease after his daughter was diagnosed with Tay-Sachs in 2011. As the founder of the rare disease patient organisation The Cure & Action for Tay-Sachs (CATS) Foundation, he is fully aware of the challenges that many families face when taking part in clinical trials. In addition, he is the Founder and Chairman of the European Tay-Sachs and Sandhoff Charity Consortium (ETSCC) which has brought together all the European charities that support patients. This has enabled the community to work together and support research on a regional, national and international level.

Darlene Schopman

The CDG conference is a place where all the great minds and the big hearts of families, caregivers and researchers come together to provide and exchange invaluable information and support for our CDG community, which helps us navigate possible treatments and supports to continue to care for people with CDG ♥

David Coman

Information and knowledge is power, and our CDG families are superhero's.

Dorinda da Silva

The World CDG Congress is a unique event that updates you about everything happening in the CDG field.

Eleonora Passeri

The World CDG conference is an international leading event that truly brings together the patient and the scientific communities enabling them to collaborate as peers

Elodie Lebrondochel

2021 will be the 3rd World Conference on CDG in my life. I remember how motivated in my research experiments I was, after the first conference I attended as a young PhD student. I am aware that gathering families, clinicians, researchers... is unique as it is so rare in the field. I am lucky to be able to live it once again and I am more than honoured to be there as a panellist for the 2021 edition

Emma Finklaire

The conference is important to me because:

1: I am able to connect with other families and professionals from around the world and not feel so isolated. Thanks to attending the 1st World Conference and the connections I made I have been able to find other families with the same subtype as Jojo and Abby.

2: I am proud to be able to share as much as I can about the more rare subtype;  Type ii MAN1B1 and also what it is like to raise two children with CDG who develop differently. 

3: I would like to acknowledge all our/the amazing siblings who grow up alongside our CDG children and what amazing human beings they are.

 

Ethan Perlstein

I'm honored to be a part of the CDG researcher community

Etienne Barrier

The conference is important for people who are involved with CDG to meet, share their experiences, share their knowledge and support each other

Eva Morava

Without getting patients, parents, clinicians and scientist together we won’t be able to cure CDG.

Femke van der Maat

Knowledge about CDG helps me to walk the best possible path of life with my children

Gabriel Ribeiro

Giuseppina Andreotti

It is important to attend the World Conference because there is no better way to create a community with common goals.

Gonçalo Valadão

As a parent of a child with CDG this conference is a great opportunity to meet a unique blend of worldwide CDG families and worldwide CDG healthcare professionals.

Heather Conneran

The World CDG conference is a remarkable event, bringing the strength and expertise of CDG patients, families, researchers and medical professionals together all at one time-driving progress and reigniting hope for a brighter future for those affected by CDG.

Helen Shapiro

As a clinical research professional, it is crucial to interact with your patients and their communities to determine what matters to them and to keep them in mind every step of the way during clinical development.

Holly Carmichael

The connections made through the CDG World Conference are invaluable. Learning and collaborating with the top minds in CDG research and care is so critical as we move towards advancement of treatments and cures. When you meet with other CDG families you are instantly bonded and connected for life. Truly an amazing experience

Horacio Plotkin

The World Conference is the perfect environment for families, medical professionals, and companies to get together to learn from each other and find even more ways to collaborate

Ida Vanessa Doederlein Schwartz

It will be an honor to participate in the 5th World CDG Congress. As a geneticist and researcher in the area, I would like to give voice to the needs and achievements of the Latin American CDG community. The difficulties are still great, and education is essential to expand access to diagnosis and treatment.

Inês Alves

Irakli Rtskhiladze

Collaboration and exchange of experience  between colleagues  is  extremely important especially in case of rare diseases. For me the best example of such successful international collaboration is teamwork of pediatric haemato-oncologists, who started to join forces decades ago and delivered excellent, step by step protocols (guidelines) for management of haemato-oncological diseases, rescuing lives of thousands. It’s also extremely important to involve families in the workgroups and deliver information to interested persons in understandable and efficient way.

 

Jaak Jaeken

As long as CDG are severe diseases mostly without treatments, conferences remain very important tools to raise awareness for CDG, to bring families together to support each other, and to bring scientists together to learn what it means for the patients and the families to have a CDG thus increasing their motivation to devise efficient treatments.

Javier Corral

The interaction between scientist, patients and families is a motivating engine driving our research and strongly stimulating our scientific activity.

Jenny Tupper

The World CDG Congress is a valuable opportunity to meet and learn from each other about this rare condition, be it through clinical expertise or lived experience.

Julia Boonnak

The CDG World Conference is vital to families around the world who are looking for other families and professionals to turn to for support. It is important for families to see as many people as possible who care about improving the lives of those affected by CDG, and for those families to share their experiences of CDG with others.

Juliana Ferreira

O congresso é muito esperado para as famílias, afinal pouco se sabe sobre CDG, e precisamos tornar a síndrome conhecida mundialmente. Esperança por tratamentos é o que temos!

 

Julie Zeh

The conference is important to me because CDG is pretty rare—through these events, I can share my knowledge from my experiences with my son as well as gain knowledge from others that I can use towards his care.

Kara Berasi

The World CDG Congress is of the utmost importance to me as a parent of a child with CDG. It is an opportunity to connect with other families, learn about the latest research happening around the world, and gain renewed hope for the future.

Karen Hackley

I think the world CDG Congress is a relevant event because it brings families together in a fight to find a cure for a very complex disease.

Karen Morici

Although CDG is ultra-rare in this world, connecting through the CDG World Conference and in our community is incredibly valuable and gives us a chance to gain knowledge, support and hope during our CDG journey.

Kayla Card

Personally the CDG conference means the world to me as any new information and sharing of this rare disease will help in the process of making people with CDG including my little girl have a higher and healthier quality of life.

Kerry Blondheim

This conference is so important to our families and others because it provides an opportunity to share knowledge and connect with others. Both of these are critically important with a rare diagnosis as this type of information and connections aren't readily available.

 

Kimiyo Raymond

1. It is one of a kind meeting where scientist (health care, allied health care, basic biologist, chemist, pharmacologist etc.) has the opportunity to get together to learn and plan a strategy for the future (wide spread, early, reliable, cost conscious diagnostics approach and effective and affordable treatments;
2. And a great opportunity to meet the families affected with this disorder. Exchange ours and theirs expectations. To share our passion for CDG and the hope to find a cure.
3. To incite, invite, and mentor new generation of health care providers to excel in this field.

Konstantin Feinberg

I am a neuroscientist. I am also a father of Ethan, 6y.o. boy with CDG1a. Dealing with Ethan’s problem has become our daily routine. Our physical and mental afford dedicated to improving Ethan’s functionality and making his life easier in general are always associated with a feel of guilt that we do not do enough. From my professional perspective I work on establishing a research dealing with CDG - associated neuropathy. Since, CDG is a very young and mostly unknown group of disorders, there is a highest importance in communication between families and scientists, when we could share our personal experiences and new ideas, and discoveries to learn about multiple practical and mental aspects, as well as potentially developing therapeutic approaches, respectively. I find  this and other CDG - dedicated conferences crucial for supporting this unique community and achieving our ultimate goal to help our beloved ones to live maximally possible fulfilling life.

 

Kristin Kantautas

The World CDG Congress is an important platform for the CDG community to come together and exchange knowledge, raise awareness and advance research on CDG.

Kristin Mikarts

I look forward to connecting with other families and learning more about research and initiatives regarding CDG. 

 

Kulani Shiluvane

For me, this is important as it helps me to understand my son's condition better and to learn more about it, while doing the best I can as a parent to equip my son  for the future.

Larissa Vieira

CDG world Conference is important because it connects families and professionals promoting an exchange of experiences and knowledge update.

Lorenzo Lachi

I've known CDG family in 2015 in Lyon. From that moment we feel stronger and less alone.

 

Louise Rimmen

The cdg meeting, and community in general, is very important to me, because this is a platform where we can help each other in every way.

 

Louise Ward

I feel the conference will bring together all of the separate social media groups, the families from across the world, the healthcare professionals and the scientific and research communities. 

All of which have a shared interest in CDG, creating a collective positive energy and propelling us forward.

 

Malina Stancheva

The 5th World CDG congress 2021 is a very important event for all of us-specialists and families affected of this group of increasing in number and complexity metabolic disorders. I consider that everywhere the diagnostics is difficult and expensive and the physicians who care for the children with rare disorders are few. I spent years of dedication to Congenital Disorders of Glycosylation and my heart is full of love and sympathy for the children. I feel the confidence of my colleagues and the responsibility to continue my work and support the CDG society even in unfavorable circumstances. 

Mandy Pinheiro

Being a parent of a child with CDG, I have travelled a journey to upskill myself on this condition, and it is through collaborations with organizations, doctors, specialists, other parents and conferences that we are moving forward with such success and celebrating new ground breaking therapies and cures... Lets keep the momentum for those that really need our efforts.

 

María Eugenia de la Morena Barrio

Joining our knowledge is the only way to help patients, scientists and phisicians. Sharing and communicating it in the World CDG Congress the best way.

Maria Grazia Rossi

World CDG Congress is also an opportunity to make available my expertise for the CDG community, but most of all, it is an exciting platform to co-construct meaningful research programs with both families and professionals.

Maria Monticelli

The World CDG Conference is the meeting of the CDG needs: patients, researchers, and clinicians join their forces and exchange opinions and necessities. It is crucial for the growth of the CDG Community!

Mariana Esquinca

Control, solution and progress. Going always forward, because everything is possible.

Maribel Quiroga

De todas ellas, quizás la más importante para mí es que consigue crear una Comunidad cohesionada entre familias y especialistas, lo que permite que los conocimientos científicos conecten con la realidad que viven los pacientes y sus familias. Sin duda ninguna para mí ha sido el congreso más interesante y útil en que el que he participado.

Marina Szlago

 

CDG: Juntos marcamos la diferencia. Por los pacientes, las familias y por todos!!! #StandUnited4CDG!

Marit Kuyper

Why do I think these CDG conferences are important? These CDG World Conferences are a unique way to combine sharing global medical/physical knowledge and results as well as experiences and needs of parents and other caretakers involved with CDG children and adults. As a mother of a 10-year old daughter with CDG 1-A I'm very happy and honoured to participate in the panel discussion.

Marta Falcão

The World CDG conference it’s extremely important to help raise awareness amongst the general public and to improve the quality of the information provided to the families and medical staff.  It brings together families, doctors, scientists and enthusiasts providing a sense of belonging to a community, helping many families feel supported and encouraged.

Marta Kadziolka

 

The World CDG Congress connects families and professionals, building awareness of the CDG experience, affirming scientific and medical professionals in their efforts to understand CDG, and giving much-needed hope to CDG families about their children's future quality of life. 

Marta Vazquez

CDG patients are spread all over the world and for this reason it is very important to have a place to show our unity. We are very different people but in this fight we are one against CDG. Unity makes strength.

Megan Bonavia

 

As a parent of a recently diagnosed child with CDG-1a, I am interested in gaining and sharing knowledge on how to provide the best opportunities and support for our loved ones in the CDG community.

Megan Winkels DeHaven

This Congress shares so much valuable information about CDG which in turn helps me to better understand and anticipate the what if’s for my Daughter. We need to educate on this condition to help other families make sure they are receiving proper diagnosis and care for their family members. I am honored to be a part of this event and to be able to share information on our story to help other families that are in our shoes.

Melissa Schlemmer

As a parent of a child with CDG, the conference gives me a sense of belonging and community. There is absolutely nothing like being with people all driven by the same desire to learn, improve, and help one another. 

Mirian Janssen

I would like to contribute because one of my goals is to improve the quality of life of CDG patients.

Nathalie Harvey

Ces conférences ont une forte importance, ça a été l’occasion lors de la 2ème à Lyon de rencontrer pour la première fois d’autres parents concernés par le CDG et surtout de comprendre ce qu’est ce syndrome, en ayant la chance de pouvoir échanger en direct avec des professionnels.

Nikki Zimmerman

This conference to me is important because any opportunity to learn more to help not only my sons quality of life but also all the other effected by CDG now and if the further.  Knowledge is power.  

Oriane Hostache

The conference is a great moment that unifies and connects families and all professions aiming to better understand and manage CDG syndrome and to restore hope for a therapy!

Oriol Gallego

 

The World CDG Congress is a global response to a disease that knows no frontiers.

Paul Collot

For me, this first participation is the first step in a journey that will help my son get the life and future he deserves. World CDG Day is the place where scientific and families can share, bond and make everything happen.

"The meaning of life is to find your gift. The purpose of life is to give it away." - W. Shakespeare

Paula Videira

The World CDG conference is much more than a conference! It is a family reunion, where everybody feels welcome. It gives us a unique opportunity to meet people, putting CDG families and patients, and professionals altogether, at the same level. We will all get embraced and have the opportunity to expand our knowledge and learn beyond that. It surely enhances our own work or daily life. I am looking forwards to this memorable event.

Peter McWilliams

 

Drug development, particularly in rare diseases, is a huge TEAM effort – it requires the engagement of companies, researchers, clinicians and, most importantly, patients and their families and caretakers – and this conference is a unique and special venue for that engagement.

Peymaneh Sarkhail

 

It is my great pleasure to attend the 5th CDG congress.

As the consanguinity rate in my country is high, I guess we might have many undiagnosed CDG patients in Iran because we also do not have any specific test to find them and most of our physicians are not familiar with this group of metabolic disorders.

Rebecca Stewart

Rare Revolution Magazine gives a voice - and a platform - to patients, industry professionals, clinical and healthcare providers and the patient groups and charities that support over 8000 different rare conditions. Rare Revolution Magazine is a unique, first of it's kind publication, dedicated to giving rare disease a voice.

Rita Barone

The CDG World Conference for Families and Professionals is a unique context that unites Families and Professionals from around the world with the aim of sharing the proxy experience with cutting-edge research in the field.

Rita Francisco

This conference is a unique and safe forum. A platform where professionals and families can openly talk and learn from each other!

Ruqaiah Altassan

I believe that we have the potentials to help our CDG families and the networking between us is the key for that.

Saadet Mercimek-Mahmutoglu

World CDG Conference brings health care professionals and families with CDG together to share experiences and guide physicians taking care of families with CDG for precision medicine.

World CDG Conference will provide me ample knowledge about many faces of CDG and privilege to meet families with CDG.

Sandra Brasil

The World CDG Conference is a unique and dynamic event where professionals and families can share experiences and thoughts to advance CDG research.

Sandra Brasil

The World CDG Conference is a unique and dynamic event where professionals and families can share experiences and thoughts to advance CDG research.

Sandra Pinto

The CDG conference is of utmost importance as an instrument to access relevant information on this syndrome and its impact on the quality of life of patients and their families.

Sanja Juric

Being rare, being chosen to fight this rare disease brings us parents a feeling of helplessness, fear and confusion so this type of event is extremely important because it gives us the information we want, support that we are not alone and instills hope and faith for easier everyday life.

Silvia Bottini

Nowadays the development of new technologies, such as genomic analysis by means of next generation sequencing (NGS) and other “omics technologies”, has boosted the molecular understanding and diagnosis of several diseases. Thus, as expert in multi-omics approach development and data analysis, I will contribute with the bioinformatic point of view to the discussions raised during the session.

Sophie Clayton

The World CDG Congress is a relevant event from my point of view as I am a mother of Elijah aged 9 months who was diagnosed with PMM2-CDG type 1a, I have two other little boys Reuben aged 5 and Isaac aged 2 who are unaffected by this condition. It has been quite a journey since his diagnosis at 5 months of age, finding the right clinicians, correct treatments, support networks, vital information on his condition and seeking the right positive approach to helping him lead a fulfilling, happy life.