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French and Canadian scientists make discovery that could affect diagnosis, genetic counselling and therapeutic approaches in patients with a rare conditionMontreal – Rare hereditary recessive diseases were thought to be expressed in off-spring only when both parents carry a mutation in the causal gene, but a new study is changing this paradigm. An international research team led by scientists at the University of Lorraine in France along with McGill University and the Research Institute of the McGill University Health Centre (RI-MUHC) in Canada discovered a new cause of a rare condition known as cblC, that they named “epi-cblC”. They reported it in patients from Europe and the United States. Patients who have cblC are not able to process *vitamin B12, leading to severe health problems.cblC is usually caused by two mutations – one inherited from each parent – in a gene called MMACHC. In some patients, the scientists found this disease actually results from a mutation on a single copy of the gene and the silencing of the second copy by a gene modification referred to as epimutation. This epimutation is produced by a mutation in an adjacent gene. Their findings, which were published this month in Nature Communications, may have an impact on diagnosis, and genetic counselling in families with genetic diseases, as well as in the development of new therapeutic approaches.

“We described a distinct and totally new mechanism referred as epi-cblC, whereby an epimutation causes abnormal regulation of the expression of an important vitamin B12 gene. This can result in a serious genetic disease that can cause anemia, neuro-cognitive impairment, and even early death,” says the study’s lead-author, Dr. Jean-Louis Guéant, director of the Inserm unit of Nutrition-Genetics-Environmental Risks at University of Lorraine and head of the Department of Molecular Medicine and Personalized Therapeutics – National Center of Inborn Errors of Metabolism at the University Regional Hospital of Nancy.

cblC is the most common of the inborn genetic errors of vitamin B12 metabolism. Based on one newborn patient case, who died from clinical implications of this disease, the scientists from the University of Lorraine identified an epimutation affecting the MMACHC gene that was present in three generations and in the sperm of the fathers of two of the seven patients. The French and Canadian groups subsequently found it in other cases from Europe and North America and discovered that it resulted from the altered reading of the adjacent gene.

“This epimutation observed in patients causes MMACHC to shut down and become inactive. This has the same effect as an actual mutation in the gene itself. This mechanism may be involved in many more diseases,” explains study’s co-author, Dr. David Rosenblatt, a scientist in the Child Health and Human Development Program at the RI-MUHC and holder of the Dodd Q. Chu and Family Chair in Medical Genetics in the Department of Human Genetics at McGill University.

These results build on a longstanding collaboration between research teams in France and Quebec, along with other collaborators in the United States (New York, Philadelphia, Boston) and Switzerland. In previous work, the researchers at the RI-MUHC and McGill discovered that mutations in the MMACHC gene were responsible for the cblC inborn error of vitamin B12 metabolism. Following the study of several hundred patients, there remained a small number in whom only one mutation could be found in MMACHC.

Geneticists and molecular biologists will now need to look for epimutations in patients who have severe forms of rare diseases despite the lack of mutation in one of the two copies of the gene. The mechanism responsible for epimutation involves the two neighbouring genes of MMACHC, the gene responsible for the disease. Epigenetic mechanisms can also be caused by the environment (diet, stress, exposure to toxic products), and not by the chance of genetic mutations.

“We have identified some 40 rare diseases where this mechanism can be produced at the level of similar trios of genes,” says Dr. Gueant.

“It points out that the study of patients with rare diseases is essential to the advancement of our knowledge of human biology,” adds Dr. Rosenblatt, who is the director of one of the referral laboratories in the world for patients suspected of having this genetic inability to absorb vitamin B12.

*Vitamin B12, or cobalamin (cbl), is essential for healthy functioning of the human nervous system and red blood cell synthesis. Unable to produce the vitamin itself, the human body has to obtain it from animal-based foods such as milk products, eggs, red meat, chicken, fish, and shellfish – or vitamin supplements. Vitamin B12 is not found in vegetables.

About this study

This study was made possible by the financial support of the Region Lorraine, i-SITE Lorraine University of Excellence (LUE), the French National Institute of Health and Medical Research (Inserm) and the Canadian Institutes for Health Research (CIHR).

To access the study published Jan. 04, 2018, in Nature Communications DOI: 10.1038/s41467-017-02306-5

About University of Lorraine

The original University of Nancy was founded in 1572 in the nearby city of Pont-à-Mousson and transferred to Nancy in 1768. The University of Lorraine has been created in 2012 by the merger of the universities of Nancy, the National Polytechnic Institute of Lorraine (INPL) and the University of Metz. The University of Lorraine has over 52,000 students and offers 101 accredited research centers organized in 9 research areas and 8 doctoral colleges. In association with several partners, including Inserm and the Regional University Hospital of Lorraine, the University of Lorraine has recently obtained the I-SITE label from the French call on excellence initiatives for a program called “Lorraine Université d’Excellence” (LUE).

About the Research Institute of the MUHC

The Research Institute of the McGill University Health Centre (RI-MUHC) is a world-renowned biomedical and healthcare research centre. The Institute, which is affiliated with the Faculty of Medicine of McGill University, is the research arm of the McGill University Health Centre (MUHC) – an academic health centre located in Montreal, Canada, that has a mandate to focus on complex care within its community. The RI-MUHC supports over 420 researchers and close to 1,200 research trainees devoted to a broad spectrum of fundamental, clinical and health outcomes research at the Glen and the Montreal General Hospital sites of the MUHC. Its research facilities offer a dynamic multidisciplinary environment that fosters collaboration and leverages discovery aimed at improving the health of individual patients across their lifespan. The RI-MUHC is supported in part by the Fonds de recherche du Québec – Santé (FRQS). http://www.rimuhc.ca

About McGill University

Founded in Montreal, Que., in 1821, McGill is Canada’s leading post-secondary institution. It has two campuses, 11 faculties, 11 professional schools, 300 programs of study and more than 37,000 students, includ-ing 8,300 graduate students. McGill attracts students from over 150 countries around the world, with more than 7,200 international students making up 20 per cent of the student body. Almost half of McGill students claim a first language other than English, including more than 6,200 francophones. http://www.mcgill.ca

About Inserm unit N-GERE

The Institut national de la santé et de la recherche médicale (Inserm) is the French National Institute of Health and Medical Research. It is the only public research institution solely focused on human health and medical research in France. Inserm consists of 339 research units, run by 6,500 permanent staff members. The UMRS Inserm unit on Nutrition-Genetics-Environmental Risks (N-GERE) studies the genetic-metabolic-environmental regulation of development and health. The approach is to unravel the epigenomic-metabolic-epigenetic mechanisms by which environmental exposures and the imbalances/deficiencies in the metabolic network affect very early development and mechanisms of complex and inherited diseases. The unit plays a prominent role in the Fédération Hospitalo-Universitaire (FHU) ARRIMAGE network between local INSERM units, clinical research of the University Regional Hospital Center of Nancy and the national reference centre for inherited metabolic diseases.

Contacts:

Fanny LIENHARDT

Press Relations

Phone: 06-75-04-85-65

Email: fanny.lienhardt@univ-lorraine.fr

 

Julie ROBERT

Communications Coordinator – Research

McGill University Health Centre

Phone: 1-514-971-4747

Email: julie.robert@muhc.mcgill.ca

 

Source: McGill University Health Centre

THE BRAINS FOR BRAIN ONLUS FOUNDATION PROMOTES THE BRAIN AWARENESS WEEK 

March 13-19, 2017

Every March, Brain Awareness Week (BAW) unites the efforts of partner organizations worldwide in a week-long celebration of the brain. BAW is a worldwide global campaign promoted by Dana Alliance for Brain Initiatives (Dana Foundation) and  European Dana Alliance for the Brain aimed to raise public awareness about the progress and benefits of brain research.

B4B Foundation is one of the official partners of the BAW and every year actively celebrates it  joining forces to raise awareness of rare pediatric neurological conditions.

Rare paediatric neurological diseases represent an unknown public health issue in Europe. Overall, there are thousands of rare diseases that affect a large number of people. About four million people in Germany and 30 million in Europe are estimated to suffer under one of 8.000 actually known rare diseases. But their seldom appearance makes it a great challenge for modern medicine. Often, the diseases are multisystemic and there are no main symptoms. Therefore a complex and interdisciplinary collaboration in diagnosis and treatment is necessary.

Given the general lack of knowledge and expertise about these conditions it’s extremely important to promote awareness, among physicians and general public, about these disorders.

To this aim,  B4B,  has organized  the  11th workshop of “Brains for Brain” (www.brains4brain.eu) which will be held at the Holiday Inn, Frankfurt Airport from 29^th of March to 1^st of April 2017.

Brains for Brain is a research group combining scientists and clinicians working in the fields of blood-brain barrier and neurodegenerative lysosomal storage diseases in order to coordinate research in this area, seek collaborative research grants and improve the therapeutic options for drug delivery to the CNS. The meeting comprises a unique mixture of Clinicians, Scientists, Family and Patient Associations and the Pharmaceutical Companies that are devoted to the understanding and treatment of these orphan diseases and other inherited neurometabolic neurodegenerative diseases.

Particular relevance will be given in the workshop to pathophysiology and translational activity together with the relationships of B4B with important European institutions and international family associations.

The aims of the 11th Meeting of the Brains For Brain Foundation are to discuss:

1. Research achievements in the field of neurodegenerative diseases, in particular lysosomal storage disorders (LSDs) at clinical and basic science level and in the field of Blood Brain Barrier;
2. New recent advances on natural history and pathophysiology of LSDs;
3. Factors which control the entry into the brain of medicines and other therapeutic agents which may be helpful in treating central nervous system disease;
4. How B4B and the European Union might collaborate to stimulate interest on research in rare diseases, and specifically we will have a session regarding the vision, the mission and the goals of European Reference Network for hereditary metabolic diseases (MetabERN) which is lead by Maurizio and involves 69 EU nationally certified Healthcare Providers from 18 countries. And we think that B4B will surely play an important role also in this project.
5. The role of the industries in driving innovation for new therapeutic approaches for true unmet needs.

The establishment of an open dialogue among patients affected by rare diseases and their families, together with public authorities, researchers, health professionals, industry representatives and anyone who has a genuine interest in rare diseases  constitutes an important strategic action for overcoming the knowledge gap in the field of rare diseases.

B4B  firmly believes that it is fundamental to manage rare diseases in an expert multidisciplinary setting where research, knowledge and expertise are easily shared,  assuring the best health outcomes for each patient.

Stay tuned for more updates

B4B IS A FRIEND OF RARE DISEASE DAY!

 Celebrated on the last day of February–the rarest day on the calendar–this is the one day every year when the world comes together to improve the lives of people living with rare diseases.

The 28th February 2015 marks the eighth international Rare Disease Day coordinated by EURORDIS  and preparations are already getting underway in many areas. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.

Even though the campaign started as a European event, it has progressively become a world phenomenon, with the USA joining in 2009, and participation in a record-breaking 84 countries around the world in 2014 and hopefully many more will join in 2015. Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.

The theme of Rare Disease Day 2015 is “Living with a rare disease” – paying tribute to the millions of families whose daily lives are impacted, and who are living day-by-day, hand-in-hand with rare disease patients.

The slogan Day-by-day, hand-in-hand of the  Official Rare Disease Day 2015 Video evokes the solidarity between families, patient organisations and communities.

B4B welcomes this initiative and is pleased to contribute to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Due to the fragmentation of knowledge, it can take years before a patient affected by rare diseases get diagnosed. B4B considers the promotion and the coordination of Research extremely important for health care system, and particularly for Rare Diseases, since they represent the tools by which speed up the achievements of results in research and benefits for patients.  This year Rare Disease Day encourages us to continue finding ways to work together to provide the different kinds of care that people living with a rare disease need.
B4B has done and will continue to do big efforts in order to encourage clinicians to work together in the most effective and efficient way in order to produce the best health outcomes for the patients.

For more info about the rare disease day please visit http://www.rarediseaseday.org/

B4B is a friend of RARE DISEASE DAY
28 February 2014

28 February 2014 marks the seventh international Rare Disease Day coordinated by EURORDIS.
On and around this day hundreds of patient organisations from more than 70 countries and regions worldwide are planning awareness-raising activities around the slogan “Join Together for Better Care”.
B4B welcomes this initiative and is pleased to contribute to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Due to the fragmentation of knowledge, it can take years before a patient affected by rare diseases get diagnosed. B4B considers the promotion and the coordination of Research extremely important for health care system, and particularly for Rare Diseases, since they represent the tools by which speed up the achievements of results in research and benefits for patients. This year Rare Disease Day encourages us to continue finding ways to work together to provide the different kinds of care that people living with a rare disease need.
B4B has done and will continue to do big efforts in order to encourage clinicians to work together in the most effective and efficient way in order to produce the best health outcomes for the patients.

For more info about the rare disease day please visit http://www.rarediseaseday.org/

THE BRAINS FOR BRAIN ONLUS FOUNDATION PROMOTES THE BRAIN AWARENESS WEEK
March 10-18, 2014

Every March, Brain Awareness Week (BAW) unites the efforts of partner organizations worldwide in a week-long celebration of the brain. BAW is a worldwide global campaign promoted by Dana Alliance for Brain Initiatives (Dana Foundation) and  European Dana Alliance for the Brain aimed to raise public awareness about the progress and benefits of brain research.
B4B Foundation is one of the official partners of the BAW and every year actively celebrates it educating the public about the wonders of the brain  and the nervous system and organizing a series of conferences, focused on the understanding of pathophysiology and therapy for neurodegenerative disorders, throughout which participants can learn from top neuroscientists news on latest scientific findings on Brain and Brain related diseases.

Brussels – 17th February 2014
B4B ATTENDED THE WORKSHOP
“SCIENCE AND INNOVATION: CLOSER THAN RARE!”

With the purpose of impacting the Institutional Leaders and the Society to the problem of rare diseases and encouraging constructive action on the part of policy makers, B4B actively participated to the Workshop “SCIENCE AND INNOVATION: CLOSER THAN RARE!” held at the European Parliament in Brussels on 17th February 2014.
The workshop, hosted by MEPs Maria da Graça CARVALHO, and Mario DAVID under the patronage of the Presidency of the Portuguese Republic, First Lady of Portugal Maria Cavaco Silva, was also attended by Tonio BORG, Commissioner for Health and Consumer Policy, European Commission.
During the meeting it was generally agreed that much of European research lacks overall coordination and remains a little fragmentary.
One of the big challenges with rare disease is diagnosis.
Diagnosing a rare diseases is in fact often a long and complex process. This is mainly due to the fact that scientific knowledge is generally insufficient and scattered. The development of joint actions and collaborative efforts were encouraged since cooperation is the crucial key necessary to overcome the gaps in research in the area of rare diseases in EU.
It was highlighted the importance of pooling knowledge, resources and expertise on rare diseases, funding related research and authorising the best possible medicines for these diseases.
Participants agreed to continue their hard work so that in the near future, each and every patient affected by a rare disease can access the best possible diagnosis and care.

Download Agenda

Click on the files below for suggested reading
Graca Carvalho – speech and Tonio Borg – speech