HNRNPH2-related Disorders

HNRNPH2-related Disorders

Connecting families, understanding the disease, and finding treatment

Family Meeting 2020

Since the initial 6 individuals were identified, as of 2021 we have enrolled 50 additional cases of individuals with variants in hnRNP H2, although many more individuals have been identified. The majority of individuals affected...

Annual hnRNP H2 Family Meeting

A Note From the HNRNPH2 Research Team: Since the initial 6 individuals were identified, as of 2021 we have enrolled 50 additional cases of individuals with variants in hnRNP H2, although many more individuals have...

Donate

Help us work to deepen our understanding of our this genetic condition and to study possible interventions at the laboratory level. DONATE BY CHECK Please send all checks to: Dr. Jennifer Bain Harkness Pavilion, 5th Floor...

Family Meeting 2020

Since the initial 6 individuals were identified, as of 2021 we have enrolled 50 additional cases of individuals with variants in hnRNP H2, although many more individuals have been identified. The majority of individuals affected are girls, although we have confirmed variants in 5 boys. Our research has employed the use of a prospective testing battery where we administer assessments remotely to test for various neurologic, behavioral, psychiatric, developmental, and social factors in this genetic group. We have also gathered information from former genetic reports and medical records. Our virtual family meeting this year was incredible. We were so ecstatic by the turnout. Of the 41 families who attended the meeting, we had the opportunity to conduct physical and neurological exams on 25 individuals, occupational therapy assessments on 20 individuals, physical therapy assessments on 14 individuals, and gait analysis on 11 individuals. These testing measures revealed similar clinical symptoms to that of the original cohort, including atypical facial features, neurologic abnormalities, atypical gait, and abnormal muscle tone, among other clinical findings. Our research manuscript was recently accepted to the journal of Neurology Genetics, and will soon be publicly available! We are immensely grateful for your contribution and hope to give back what you have so generously given to us.

We invite families with hnRNP H2 variants to help us improve our understanding by contacting us and partnering. We need to better understand why changes in hnRNP H2 causes problems with brain function so we can develop new treatments. Please see our posting on clinicaltrials.gov for more information on our study: https://clinicaltrials.gov/ct2/show/NCT03492060?cond=hnrnp&rank=1 or reach out to us at hnrnp@columbia.edu.

– Bain Research Lab at Columbia University Irving Medical Center

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Annual hnRNP H2 Family Meeting

A Note From the HNRNPH2 Research Team:

Since the initial 6 individuals were identified, as of 2021 we have enrolled 50 additional cases of individuals with variants in hnRNP H2, although many more individuals have been identified. The majority of individuals affected are girls, although we have confirmed variants in 5 boys. Our research has employed the use of a prospective testing battery where we administer assessments remotely to test for various neurologic, behavioral, psychiatric, developmental, and social factors in this genetic group. We have also gathered information from former genetic reports and medical records. Our virtual family meeting this year was incredible. We were so ecstatic by the turnout. Of the 41 families who attended the meeting, we had the opportunity to conduct physical and neurological exams on 25 individuals, occupational therapy assessments on 20 individuals, physical therapy assessments on 14 individuals, and gait analysis on 11 individuals. These testing measures revealed similar clinical symptoms to that of the original cohort, including atypical facial features, neurologic abnormalities, atypical gait, and abnormal muscle tone, among other clinical findings. Our research manuscript was recently accepted to the journal of Neurology Genetics, and will soon be publicly available! We are immensely grateful for your contribution and hope to give back what you have so generously given to us.

We invite families with hnRNP H2 variants to help us improve our understanding by contacting us and partnering. We need to better understand why changes in hnRNP H2 causes problems with brain function so we can develop new treatments. Please see our posting on clinicaltrials.gov for more information on our study: https://clinicaltrials.gov/ct2/show/NCT03492060?cond=hnrnp&rank=1 or reach out to us at hnrnp@columbia.edu.

YBRP Meeting 2020 Flyer ybrpybrp mission rhNKA

Donate

Help us work to deepen our understanding of our this genetic condition and to study possible interventions at the laboratory level.


DONATE BY CHECK

Please send all checks to:

Dr. Jennifer Bain
Harkness Pavilion, 5th Floor
180 Fort Washington Avenue
New York, NY 10032
Phone: (646) 426-3876
Email: jb3634@cumc.columbia.edu


DONATE BY PAYPAL/CREDIT CARD

Please visit The Yellow Brick Road Project for more information.

Connect With Other Families

Your family is not alone. We are here to try and connect all families affected by this genetic finding in hopes to learn more, build support and provide optimal patient care. Please consider joining our mailing list so we can contact you about further family meetings, research opportunities or clinical updates.


The Yellow Brick Road Project


From the Board of Directors:

The Yellow Brick Road Project is a quest to cure HNRNPH2 mutations, our daughters’ ultra rare genetic neuro-developmental disease. The friends Dorothy made on her journey to meet The Wizard of Oz, in the timeless 1939 film, inspired the name of our organization.

Like the Scarecrow who wishes for a brain, our girls’ neurological development is severely impaired and impacts everything; we strive to improve their cognition. Like the Cowardly Lion, each one affected suffers from anxiety; we strive to find ways to give them confidence and courage to navigate in the world.

And what about the Tin Man? He longs for a heart in the story. Like him, we strive to give our girls a more fulfilling life, free from HNRNPH2 mutations and everything this despicable disease has stolen from them.

Dorothy, as the story goes, wants to return home, to where she belongs. Help us on our journey, on our Yellow Brick Road home, to a cure.”

 

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