I'm supporting CHEO! do.nr/f7im7pg2 via @DonorDrive

Good to have you back.

🚀New paper out in @NatureMedicine!
🌟Over 500 patients receive a diagnosis in a historic milestone for rare disease research in Europe

This groundbreaking effort, part of @Solve_RD, was led by the CNAG reseachers @SteveLaurie42 and Sergi Beltran

📎cnag.eu/news/over-500-…

Our clinical research team at the #NeuroMuscular centre of @OttawaHospital is excited to share that a Canadian patient affected by DOK-7 CMS is the first patient world-wide to receive a dose of a novel trial medicine for this condition!🌎

Full story➡️ lochmullerlab.org/Dok7-CMS-study

Exciting new publication from the lab, led by Dr Ingo Kurth and his team from Germany, shows alterations in the TRiC chaperonin complex may play a pivotal role in a new group of severe brain conditions now known as TRiCopathies!🧬 @kinnudreamz @ConnectRD
🔎bit.ly/3Azwcpf

We are delighted to announce that Hanns is this year’s winner of the Researcher of the Year award conferred by @uOttawaMed and @OttawaHospital.🥳Congratulations Hanns, your team is very proud of you!

🏆Read more about the award: lochmullerlab.org/?p=349627

We are pleased to share a new collaborative study with the NIMHANS NM team in Bangalore! From author Dr. @kinnudreamz, this study identifies a recurrent homozygous intronic variant in DES as causative in 3 previously unsolved LG-CMS patients from India.

➡️lochmullerlab.org/?p=349621

Exciting start if the week!
We are meeting with 25 European rare disease experts on-site (plus 10 online) from @Solve_RD for a long-read #solvathon. @radboudumc @GeneticNijmegen
Goal is to use use the joint expertise to „solve so far undiagnosed rare diseases“!

We are seeking a PhD student to join our team at the CHEO RI!

The project involves work with cell models, biomarker studies, and mechanistic investigations into #DM1 as part of the @uOttawaBMRI & @HeartInstitute Brain-Heart Interconnectome.

Learn more: bit.ly/LLPhD

🗓️Save the Date! We will be hosting our first basic science #NMD4Csummerschool for neuromuscular trainees over May 27th-28th, 2024 in Montreal, QC to provide lectures & training workshops in wet lab and bioinformatics techniques. 🧬🔬

Learn more➡️neuromuscularnetwork.ca/news/save-the-…

Exciting news for 🇨🇦 researchers! Hopefully we see this as a stepping stone for new investments into science and research.

The push is on to continue to invest in the tri-councils improving the funding for graduate students, post docs and research groups!

#SupportOurScience

Exciting News in Genetic Diagnosis! Our researchers have pioneered a groundbreaking workflow closing the gap in detecting 5q-Spinal Muscular Atrophy (5q-SMA). 🌐

Read about the innovative approach in the Journal of Neuromuscular Diseases: bit.ly/3FYGGgX

🎊Congratulations Dr. Andreas Roos on winning the @WorldMuscleSoc President’s Prize for Emerging Myologist of the Year! The prize highlights Dr. Roos’ exceptional portfolio of recent work, in particular his study on FILIP1 variants.

🔗lochmullerlab.org/AndreasPrize
📸: @WorldMuscleSoc

The @OttawaHospital NeuroMuscular Centre is now accepting applications for 1 or 2 year funded Neuromuscular/Clinical Neurophysiology (EMG) #fellowships!

Learn more about the program at: lochmullerlab.org/TOHfellowship

🔔Applications are due: Oct 31, 2023

🚨New publication from lab postdoc @kinnudreamz, whose first-author publication 'Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort' has recently been published in @Brain1878!

➡️Learn about the study: lochmullerlab.org/CMScohort

A busy summer for #ProDGNE filled with great discussions on #GNEMyopathy🧬!

Big thanks to @LochmullerLab for hosting our internal #ProDGNEmeeting2023 in Ottawa 🇨🇦last week and to our amazing advisors and keynote speakers Stella Mitrani-Rosenbaum and David Wishart @WishartLab

This is Dr. Dimple Jangda.
She makes us believe that she is an Ayurvedic practitioner.

But the fact is that she is not a doctor.
She is not even an Ayurvedic practitioner.
She has no formal training in real medicine or pseudomedicine of Ayurveda.

She was a television producer. er. Then a podcast host. And thereafter, a talk show host.

She has a masters degree in business administration. She has a virtual online degree from National American University in (?)management which she claims is "honorary." She has a diploma in Yoga from Yoga Mumbai Institute. She has a virtual and unidentifiable degree in (?) business management from Thames International University, Paris.

She has no formal training in any aspect of healthcare. She is a quack of quacks. A top of the line fearmongering "wellness fraud" - a bottom feeder in the ecosystem of healthcare business.

She is a female version of Sadhguru. Lots of confidently sounding English words that takes shape of a word salad containing some of the biggest health-related misinformation and disinformation in Indian social media today.

See this video for instance.
She tells gullible people (who are already fearmongered about modern medicine and have distrust in doctors and medical science) not to opt for gall bladder removal surgery even if it gets complicated with stones disease or inflammation (called acute cholecystitis).

A dangerous misinformation that can lead to loss of life.

The physiology of gall bladder function and the change in function after gall bladder surgery that she provides is top-class garbage.

Complicated gall stone disease require surgery for cure and to prevent further complications. If you remove the gall bladder, you do not develop more diseases like diabetes or obesity. The bile gets stored in the upper part of the small intestine in the absence of gall bladder and keeps helping in digestion.

There is no food or diet shortcut that can dissolve gall stones. The story that this lady speaks about - from her own father's experience of using Ayurveda to remove gall stones is complete fabrication. It is an unverifiable, anecdotal bluff. There is no way, gall stones can just disappear in a month.

There is only ONE method to diagnose and treat gall stones disease and it is the scientific method based consensus guidelines.

See this from the European Association for Study of Liver - Clinical Practice Guidelines on the prevention, diagnosis and treatment of gallstones.
journal-of-hepatology.eu/article/S0168-…
It provides all information on
1. Prevention of gall stones
2. Diagnosis of gall bladder stones
3. Medical therapy of gall bladder stones
4. Surgical therapy of gall bladder stones
5. Diagnosis of bile duct stones
6. Endoscopic and surgical therapy of bile duct stones
7. Diagnosis and therapy of stones inside liver
8. Therapy of gall stones during pregnancy

Peppermint tea, hibiscus tea, lemon water and such easy sounding kitchen-hacks are not the treatment for gall bladder disease or complicated gall stones.

Gall bladder stones that are uncomplicated or incidentally detected do not require treatment. Do not worry about them unnecessarily. Gall stones that get stuck in the neck of the gall bladder or come down into the bile duct, causing bile duct obstruction, bile block and infection requires antibiotic therapy and after an interval, removal of gall bladder. Otherwise it could happen again and the second hit of infection could kill the person. It can also lead to gall stone pancreatitis that can lead to multiple organ failure.

No amount of hibiscus tea and lemon water will save you when you are in septic shock due to cholangitis and a ruptured gall bladder, on the ventilator inside an ICU.

High cholesterol, high blood pressure, obesity and fatty liver are not caused by removal of gall bladder, but are risk factors for development of the stones themselves - that is, metabolic diseases are associated with higher risk of developing gall stone disease and not the other way around.
bmcprimcare.biomedcentral.com/articles/10.11…

The lady had gotten it all topsy-turvy - why?
Because she has no formal education in medicine and would probably have no clue on which side of the body the liver is.

Increasing fruit and vegetable consumption in women aged 48-60 years prevented (a correlation) risk of complicated gall stone disease, and subsequent surgery, but is not in anyway same as not doing surgery for complicated gall stone disease. Once complicated, surgery is the best bet to prevent further complications.
ncbi.nlm.nih.gov/pmc/articles/P…

There is no evidence that drinking carrot and beetroot juice helps reduce complicated gall stone disease or dissolves gall stones. This is utter nonsense.

You may be wondering why my post is so long and I had to keep going on and on to debunk small points made by Dimple Jangda.

It is not so simple.

Its because of this: The Bullshit Asymmetry Principle, also known as Brandolini’s Law, states that the amount of energy needed to refute bullshit is an order of magnitude bigger than that needed to produce it.

PS: Please dont share any more of this quack's videos for me to debunk. I am getting too old for this.

We're excited to share our paper “Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects” published in @Brain1878, authored by Dr Andreas Roos together with @kaelaoconnor31 & Dr Hanns Lochmüller.

Read more 🔽
bit.ly/3NMhiQ8

Exciting news for neuromuscular research and networking in Canada. Can't wait to get started on our new plans! Happy to hear from others (especially early-career researchers) who want to get involved.