Monday, November 18, 2013

Part 2: Nepal and the Muscular Dystrophy Foundation Pictures




Anil Upadhyay- General Secretary of MDF





Karuna at the place she loves











Anil Upadhyay and Karuna Pokharel,  started Muscular Dystrophy Foundation, Nepal around 2000, shortly after they learned their son, Anushpa Nepal had Duchenne Muscular Dystrophy.  Although Anushpa died in 2008, his parents still fight for the children that need them.


The roads in Kathmandu are in great shape compared to the rest of Nepal but in poor to damn awful shape compared to roads in the US.  Because of this children with muscular dystrophy usually stop going to school due to accessibility problems. They stop going anywhere.

The Center provides physical therapy and ambulance services with a full time Physical Therapist and a driver to go with the ambulance. The driver picks up kids to bring them to the center.  A couple days a week the PT goes to the homes. The center also provides counseling to parents and sisters of boys with muscular dystrophy.

The government supports the Center by paying for diagnosis through CPK or biopsy.  They provide braces and wheelchairs if necessary. 

MDF, Nepal plans to build a Center where every aspect of muscular dystrophy can be addressed, including genetic diagnosis and care of boys with physical therapy. 


A boy with duchenne at the MDF Nepal Center
Prabha Chaulagain offers counseling and runs the MDF office


Karuna and Prabha are in the MDF office every day.

After all of the talk and meeting the wonderful people who do so much with so little to help boys with muscular dystrophy, I did a little sightseeing and souvenir buying. It was so much fun!

Temple in Kathmandu
Me, at a temple door in Kathmandu

They do have cats in Kathmandu!



Hustle and bustle

The gods can be scary!

Anil and me

More temples

So many temples!

In Kathmandu, a local goddess appears once a year in the golden window in this picture

The story of the local goddess

The market street in Kathmandu

so happy

After the fun, I will remember Duchenne and a wonderful 12 year old and his family

Saturday, November 16, 2013

Pictures: The first days in Nepal

Note from Umesh

Most days Umesh sits here

Umesh talks to me

A roof-top with purple flowers
Depesh, 31 years old


Nirmal's wife and son and me

Himalayas
Valley below; Himalaya above


Sunil - hamming it up in the mustard plants
Some kind of bull


Beauty


The grounds of an abandoned resort
Terraced gardens

Sunil with me at the abandoned resort
Azay, his family, and me

temple in the distance


Binita


Mixed use living

Another apartment building
Building in Kavre


haystack


Finding Krishna
A boy named Raju in a makeshift wheelchair



A Temple scene
Umesh and I talk
coming down the mountain

Winter Flowering

Winter Flower
Red Glory




Succulent Plant

Monday, November 11, 2013

Orphan Drug Development in Muscular Dystrophy

I'm taking a break from the Nepal story to put in a plug for an important paper on Orphan Drug Development in Muscular Dystrophy - and not just because it was written in part by my boss, Eric Hoffman!  

Thank you Jon Moulton for posting the link on Facebook, which I have incorporated here.


Orphan Drug Development in Muscular Dystrophy: Update on Two Large Clinical Trials of Dystrophin Rescue Therapies. 

This paper is an insightful update on two dystrophin replacement therapies, stop codon read through and exon skipping. The article discusses the recent ataluran and drisapersen trials and outcome measures used; clinical (six minute walk test) and biochemical (dystrophin). It discusses the difficulties with the six minute walk test as an outcome measure and talks about using alternatives, such as the time to stand or the 10 meter dash. For a biochemical measure, instead of immunostaining and immunoblotting, the authors put forth a mass spec assay as a more sensitive and reliable (.99%) measure of the biomarker, dystrophin.  This assay is now being independently tested.


Which brings me to the true purpose of this post! 



Yetrib Hathout, Associate Professor, George Washington University, who developed the mass spec assay (Accurate Quantitation of Dystrophin Protein in Human Skeletal Muscle Using Mass Spectrometry) will be speaking at our Lunch and Presentation at CNMC in Washington DC along with Carsten Bonnemann,  National Institute of Neurological Disorders and Stroke, NIH, on November 19th. Time, place and directions will be reposted soon!

Message me if you want to attend (GenMedLabMom)!

Yetrib Hathout
Carsten Bonnemann