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

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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)

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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