Cycling for BPAN research - Million Dollar Bike Ride 2023

Cycling for BPAN research - Million Dollar Bike Ride 2023

Once again this year, the Million Dollar Bike Ride (MDBR) at the University of Pennsylvania in Philadelphia is raising funds for research into rare diseases. The 10th edition of the charity bike race will take place on June 10, 2023. 

https://www.milliondollarbikeride.org/

Once again, it is possible to participate virtually. This gives us in Germany the chance to be there again. Be it just by collecting donations or by actually cycling along, having fun and at the same time drawing attention to NBIA and especially BPAN with photos.

This year, 39 different organizations are participating and the NBIA variant BPAN is again represented by our partner organization NBIA Disorders Association (NBIA DA) in the USA.

The interesting thing about the MDBR is that the donations collected are doubled by the University of Pennsylvania for a sum between US$ 20,000 and 30,000. Last year, a $69,755 BPAN research grant was awarded to Professor Bertrand Mollereau, at ENS-Lyon in France. Our goal is to surpass the US$ 20,000 mark again in 2023 together with the NBIA DA in order to initiate a new research project!

You can participate virtually as a participant and document your activities or simply donate. Officially, however, every active participant must register. However, virtual participation is free of charge. Please register here: https://www.milliondollarbikeride.org/2023-cyclist-registration

Markus Nielbock has once again created a donation page: https://charity.pledgeit.org/f/Cj497fpqdR Through this page, you can donate directly to the organizers of the MDBR for BPAN research by credit card.

Impressions from last year, video: NBIA DA

However, as in previous years, you can also make your donations to Hoffnungsbaum transfer. As "Team BPAN Germany", we collect these funds and then transfer them to our partners in the USA. In this way, you will receive proof of tax settlement from us for your donation. Please indicate "MBDR 2023" or "Team BPAN Germany" as the reason for payment. It is best to use our online donation form: https://www.hoffnungsbaum.de/spenden/

From now on, you are all called upon to work with friends, relatives, acquaintances, celebrities, athletes, colleagues, sponsors, ... To become part of this team and to cycle and raise funds for BPAN research. Encourage people around you to participate. Launch actions in your environment and draw attention to BPAN.

Post photos and videos on social media to raise awareness of the action under the hashtags: #MDBR2023 and #TeamBPANGermany or on Twitter and Instagram @MDBRide4Rare and @milliondollarbikeride on Facebook. Take advantage of our photos and videos of our Team BPAN Germany Poster. You can also send us pictures to publish on this page or on our team website.

You are welcome to document your routes via the MDBR's STRAVA portal: https://www.milliondollarbikeride.org/strava

We are very confident that with your support and together with the NBIA DA, we will surpass the US$ 20,000 mark and double the donation amount again.

Contact person for the "Team BPAN Germany" of the MDBR 2023 is Markus Nielbock: markus.nielbock@hoffnungsbaum.de

 
 

December 7, 2022, online lecture: The Gailinger concept for dealing with swallowing disorders

December 7, 2022, online lecture: The Gailinger concept for dealing with swallowing disorders

I was able to get to know the "Gailinger concept for dealing with swallowing disorders (not only) in children" during my son's rehabilitation stay at the Hegau-Jugendwerk. Our son benefited greatly from it and so I am delighted that we were able to persuade Christina Rauber (MSc and speech therapist) and Dr. med. Paul Diesener (former head of early rehabilitation at Hegau-Jugendwerk Gailingen) to present their concept in an online lecture. Despite many years of application, the concept is not known to everyone in the professional world. The two speakers presented the concept in an online lecture and were available to answer questions. The recording is permanently available here:

Christina Rauber

Dr. med. Paul Diesener

The Gailinger concept for dealing with swallowing disorders (not only) in children

Since 1994, a special concept for dealing with swallowing disorders has been developed at the Hegau-Jugendwerk neurological rehabilitation clinic for children, adolescents and young adults in Gailingen and was presented for the first time in 2007. It includes sometimes unconventional, but above all individually adapted treatment approaches for breathing problems, dealing with saliva, nutritional and swallowing problems, because there is no one-size-fits-all approach, especially for rare diseases. Our motto is therefore: no treatment without prior diagnosis. The focus is on the child! And: every child is unique.

Focal points:

  • Swallowing diagnostics using flexible endoscopic evaluation of the swallowing act (FEES)
  • Saliva management with capsaicin, belladonna and sialanar
  • Nutrition with PEG
  • Storage

An overview of all online lectures can be found here: Online lectures

Christina Rauber
Dr. med. Paul Diesener
Hegau-Jugendwerk Gailingen GmbH

Further information under:
https://www.hegau-jugendwerk.de/de/leistungsspektrum/abteilungen/Spezialsprechstunden/dysphagie/Dysphagie-Startseite.php

October 12, 2022, online lecture: Understanding hereditary developmental disorders better - what you can learn from the natural course of the disease

October 12, 2022, online lecture: Understanding hereditary developmental disorders better - what you can learn from the natural course of the disease

Steffen Syrbe is a pediatric neurologist and Professor of Pediatric Epileptology at Heidelberg University Hospital. He has been working with children with neurodevelopmental disorders for over 15 years. During this time, he has developed a strong interest in the genetic causes of epilepsies and neurological disorders. He has helped describe various neurological genetic diseases and identified new genetic causes. Currently, one focus of his scientific work is the translation of basic research into new therapies.

A better understanding of hereditary developmental disorders - what can be learned from the natural course of the disease, using the example of BPAN

In order to be able to develop new therapies from the findings of basic research, it is important to understand the natural course of developmental disorders. Only if we know the natural course of the disease can we assess whether interventions are effective.

An overview of all online lectures can be found here: Online lectures

Prof. Dr. med. Steffen Syrbe

Outpatient clinic for children with therapeutic epilepsy at the Heidelberg Social Pediatric Center

More info...

 

 

 

 

8th International Symposium on NBIA in Switzerland

8th International Symposium on NBIA in Switzerland

NBIA scientists will meet to share their research from October 13-15 in Lausanne, Switzerland, at the 8th International NBIA Symposium. More than 20 scientists and physicians from all over the world will present the results of their NBIA projects and learn about the latest developments in current NBIA research. The high-calibre program includes presentations on the most common NBIA variants PKAN, BPAN, MPAN, PLAN and FAHN and beyond, followed by discussions on the necessary next steps in the various branches of NBIA research.

 

In a confidential atmosphere, the symposium also offers the opportunity for researchers to get to know each other personally and to network, also with a view to future cooperation on research projects. Clinically active physicians, most of whom also have research experience in NBIA, can also share their experiences with treatment options for NBIA patients and thus take new findings back into their everyday clinical practice.

Hoffnungsbaum e.V. is one of the sponsors of this important NBIA event, the first face-to-face meeting of NBIA researchers since 2017, with €5,000. In 2020, the symposium was only held online due to the pandemic. Our US partner organization, the NBIA Disorders Accociation, is contributing $5,000 in the form of travel grants for young scientists.

The symposium is being organized by the Swiss NBIA patient organization NBIA Suisse under the leadership of its chair Fatemeh Mollet. Under the chairmanship of Prof. Dr. Thomas Klopstock, Head of the NBIA Centre at the Friedrich Baur Institute in Munich, a five-member scientific committee has taken on the task of designing the program. For Hoffnungsbaum e.V. our Chairman Markus Nielbock worked on the committee as a patient representative.

Website of the symposium: https://nbiasuisse.org/8th-international-symposium-on-nbia/

NBIA Family Conference 2022 postponed!

NBIA Family Conference 2022 postponed!

Hoffnungsbaum e.V. wanted to organize the 9th NBIA Family Conference in Germany in September 2022 at the youth hostel in Heilbronn. We were very much looking forward to finally organizing a face-to-face meeting of NBIA families again after two years of the pandemic. Unfortunately, several active association and board members are now so busy with their families that we have been forced to postpone the family conference indefinitely.

As a small substitute, we would at least like to attract the speakers planned for the family conference for online lectures. You can find the online lectures already scheduled here:

Online lectures

We also want to set up online meetings on the individual NBIA variants so that experiences can be exchanged even without a family conference.

We are open to suggestions for topics or speakers and if you are interested in actively supporting the Board or the association, we would be delighted to hear from you:

info@hoffnungsbaum.de

The Hoffnungsbaum Board of Directors

Call for proposals on MPAN research open by May 2, 2022

Call for proposals on MPAN research open by May 2, 2022

Hoffnungsbaum e. V. Logo
NBIA DA

Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro (AISNAF, Italy), Hoffnungsbaum e.V. (HoBa, Germany), NBIA Disorders Association (NBIADA, USA), and Stichting Ijzersterk (The Netherlands) are soliciting the submission of research projects by investigators committed to advancing the understanding of Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN) in order to pave the way to targeted treatments.

MPAN is caused by mutations of the gene C19Orf12 and manifests as one of the more frequent subtypes within the group of NBIA (Neurodegeneration with Brain Iron Accumulation) Disorders. For an overview see: https://www.ncbi.nlm.nih.gov/books/NBK185329/

More specifically, the four associations are interested in funding studies to:
• uncover the structural and/or functional properties of C19Orf12 protein,
• reveal the functional and molecular effects of various genetic mutations underlying MPAN,
• develop new disease models or study existing ones to shed light on mechanisms.

Budget:
Funds are made available through contributions by all four organizations in the overall amount of USD 145,000. The following types of grant applications may be submitted:
• up to USD 70,000 for a one-year project,
• up to USD 145,000 for a two-year project.

Applicants may submit a grant application for either one or two years or both to allow flexibility and consider the different needs of researchers. Multiple grants may be awarded if two one-year grants are considered most worthy of funding.

Call documents with detailed information are available here: https://cloud.hoffnungsbaum.de/s/zw3r75pb5KZa7Lc and they include:    
• Request for Proposals / Proposal guidelines MPAN 2022
• Draft grant agreement MPAN 2022
• Templates, to be submitted in one PDF file: cover letter, PI bio, main proposal

Deadline for proposal submission: May 2, 2022, 24:00 CEST

Applicants may contact the grant manager at grantmanager@sciencecompass.it  for further information and clarification.

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