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Dr. Matt Harms from Columbia University discusses his work on whole genome and transcriptome sequencing to bring precision medicine to amyotrophic lateral sclerosis (ALS).
Following is a summary of his presentation:
02:20 Intro of Matt Harms
05:55 ALS Gene Discovery Timeline
07:07 Human Genome Data
10:11 How Gene Mutations Work
13:35 Why Researchers look for Genes in ALS
15:19 Genes that Cause ALS & their Pathological Mechanisms
16:38 How to find Genetic Mutations
18:58 Mutations in Familial vs Sporadic ALS
20:08 Sporadic ALS & Genetic Defects
21:55 Understanding Penetrance
25:40 ALS as Monogenic vs Oliogenic
28:28 Undiscovered ALS Genes
32:24 ALS Exome Consortium (TBK1 & NEK1 discovery)
34:15 GTAC study – Genomic Translation for ALS Care
40:32 Failed ALS Trials & Precision Medicine for ALS Patients
45:47 ALS Genetic Trials
49:17 QUESTIONS
50:14 Should all ALS Patients get their genome sequenced?
52:34 How do I go about getting my genome sequenced & what is the cost?
54:26 What do I do with the info re my genome & Variants of Unknown Significance?
56:58 Does IVF genetic testing include ALS gene testing?
57:57 What is the difference between Genome vs Exome Sequencing, which is about 2% of genome?
59:59 Are any mutations more common among women vs men?
1:01:25 Will CRISPR technology be able to be used on ALS genes?
1:03:35 What is the penetrance of the C9ORF72 gene?
1:06:02 Are there any genes that affect rate of progression or type of onset?
1:08:35 Do ALS Patients or Families have more than one gene mutation & different phenotypes?
1:14:24 Should ALS Patients get the COVID-19 vaccine?
1:15:50 SOD1 Hypothetical: 5 affected members with different age of onset & limb/bulbar onset
1:18:18 Have you heard about TRIP4 gene & its impact on ALS?
1:20:04 Is it possible that environmental exposures to copper, zinc or manganese could mirror the genetic mutations in the copper-zinc SOD1 or the manganese SOD2?
1:21:25 Have you heard about the RARS gene & a connection with ALS?
1:23:34 Can the gut play a role in developing ALS & are any genes related to the microbiome & ALS?
1:25:02 Can you explain the epigenetics of how to change the expression of your genes causing ALS?
1:28:00 Are there any genetic connections between Ig antibodies & ALS?
1:28:30 Can you discuss how you’ve been able to get insurance coverage for Sodium Phenyl Butyrate?
1:30:38 Do you have any thoughts on the connection between ALS & the declining function of the 7 longevity genes called SIRTUINs?
Our Speaker, Matthew Harms, MD is an Associate Professor of Neurology at Columbia University as well as a neurologist at the Eleanor & Lou Gehrig ALS Center of Excellence. His practice & research include a focus on genomics and the genetics of ALS. Dr. Harms is the Director of the Precision Medicine Initiative at the Institute for Genomic Medicine at Columbia. In that capacity, he is directing an international multi-site effort using whole genome and transcriptome sequencing to bring precision medicine to ALS. The Precision Medicine Initiative will help drive innovation in genomic medicine for research, diagnosis and treatment of genetically based diseases like familial ALS. Dr. Harms is also a Principal investigator of the “Genomic Translation for ALS Care” (“GTAC”) Project. GTAC’s mission is to better understand how different genes contribute to various clinical forms of ALS. This will in turn help researchers design better, more focused clinical trials for the development of more effective treatments. Ultimately, this precision medicine approach will ensure ALS treatments are tailored to each person’s unique genetic makeup.
Dr. Harms has received following NIH Grants
NEW YORK CITY CONSORTIUM FOR PRECISION MEDICINE (Federal Gov) Mar 24 2018 - Feb 28 2023
INTEGRATED GENOMICS IN CLINICAL ALS (Private) Oct 1 2015 - Dec 31 2020
BIOGEN IDEC (Private) Nov 1 2014 - Dec 31 2020
NOVEL EXTRACELLULAR VESICLE AND MOLECULAR BIOMARKERS OF ENVIRONMENTAL EXPOSURE AND DISEASE PROGRESSION IN ALS (Federal Gov) Sep 30 2018 - Sep 29 2020
CREATE CAPTURE (CLINICAL PROCEDURES TO SUPPORT RESEARCH) (Federal Gov) Sep 30 2019 - Aug 31 2020
