Ask the Expert: Dr. Gabriel Haller on The Genetics of Chiari I Malformation

Описание: Help share more videos like this by donating to Bobby Jones CSF: https://bit.ly/bjcsfdonate

*TIMESTAMPS FOR THIS VIDEO ARE AVAILABLE; CLICK 'SHOW MORE'*

If you are interested in getting involved in this research, visit: https://bobbyjonescsf.org/wustl-genet....

Gabe Haller, PhD, shares some data acquired from some research studies at Washington University in St. Louis on a very hot topic, Genetics of Chiari I Malformation. Is Chiari I genetic? What about the genetics of comorbidities of Chiari I Malformation? Dr. Haller does a fantastic job with delivering a crash course in the basics of genetics and explaining exactly what they were looking for and what they found!

This lecture and Q&A was given completely virtually on March 11, 2021 under the Ask the Expert International Research Series. (2021)

Note from Bobby Jones CSF: We want to take a moment to sincerely thank all those who donated in support of this virtual presentation. Your generosity during such a difficult time for us all was both unexpected and extremely appreciated. From the bottoms of the hearts of our boards, staff and volunteers, we want to thank you for your donations. Your kindness continues to motivate us and makes us all the more certain that this work is valuable and helping the people who need it. Thank you.

For more information and educational materials, visit our website: https://bobbyjonescsf.org

Connect with Us:
Facebook:   / bobbyjonescsf  
Twitter:   / bobbyjonescsf  
Instagram: http://instagram/bobbyjonescsf

TIMESTAMPS
0:12 – Introduction & disclaimer that this is not a clinical session
1:48 – Dr. Haller introduction
3:58 – More about Washington University Chiari clinical and genetics studies
5:35 – What is Chiari malformation and how many people are affected?
7:28 – Is Chiari genetic?
10:09 – What genes might be implicated in Chiari?
12:15 – What other disorders and syndromes can co-occur with Chiari?
15:45 – Washington University’s early genetics research and pedigrees with other institutions
17:49 – Exome sequencing in Chiari families
18:56 – Looking for genes in Chiari families and what Washington University scientists have discovered
21:51 – Potential genes in Chiari and what they might mean
27:00 – CHD8 gene in Chiari malformation
29:00 – Macrocephaly and Chiari 1
31:29 – MRI and brain volumes in Chiari 1
34:01 – Research findings in zebrafish with Chiari
36:33 – Presentation conclusions, takeaways and acknowledgements
38:13 – How does genetic testing work; how do patients get tested? And do those test results go into DNA databanks? Also: does everyone have a CHD8 gene?
41:19 – What does “autosomal recessive” mean?
43:13 – How much of CHD8 gene is part of Chiari? And is there difference in the amount of brain tissue, or just volume in the Chiari zebrafish?
45:16 – What is known about the tenascin-X gene, particularly in connective tissue disorders?
47:19 – If someone has already signed up for a genetics study at Washington University or Utah, do they have to sign up for others? How are study data being shared?
48:13 – In the case of triplets: two identical triplets with Chiari and neurodivergence and one fraternal triplet, without Chiari and who is neurotypical. What are the chances that the neurotypical son may have a child with Chiari or neurodivergence?
50:34 – Can sex at birth impact expression of Chiari?
52:26 – What might be some genetic connections between Chiari and EDS/hypermobility?
54:26 – Anything known about connections between Chiari and trigeminal neuralgia?
54:57 – Is there a difference between Chiari 1 and “complex Chiari,” genetically speaking?
56:00 – What are the genetic connections between Chiari and neurofibromatosis type 1?
57:57 – Some people guess that Chiari is caused from too big a brain and others from too small a skull: is there genetic evidence for both?
1:01:24 – Anything known about how environment plays into Chiari genetics?
1:04:15 – Is there anything specific that someone should bring up in a genetic counseling session?
1:05:16 – What are your plans for future studies and what would you like to learn?
1:10:27 – If people participate in the genetics study, do they get their DNA results?
1:11:16 – Is this just Chiari 1? Or is Chiari 1.5 and others included?
1:11:51 – Conclusion