Breathing is Everything
Our speaker, Randy Fishman and Dr. John Hansen-Flaschen, MD from University of Pennsylvania will discuss Respiratory care for people with ALS. Randy L. Fishman is a founder and key advisor to both the Jay S. Fishman ALS Augmentative Communication Program at Boston Children’s Hospital and the Home Assisted Ventilation Program at the University of Pennsylvania. She is co-founder and member of the Advisory Board of Answer ALS and a member of the Executive Committee of ALS Finding a Cure. In these roles, she continues the work that she and her late husband Jay S. Fishman, began in support of ALS research projects and patient care programs for the ALS community. She also serves on the Board of Citymeals on Wheels and New York City Ballet. Mrs. Fishman holds a B.S. in Physical Therapy from Washington University in St. Louis. John Hansen-Flaschen is the Paul F. Harron Jr. Family Emeritus Professor of Medicine at the University of Pennsylvania. He served from 1990 through 2014 as the Chief of the Pulmonary, Allergy and Critical Care Division at Penn. As Division Chief, Dr. Hansen-Flaschen founded the multidisciplinary Paul Harron Lung at Penn with the benefit of a major gift from family members of one of his patients. From 2013 to 2017, Dr. Hansen-Flaschen served as the founding Editor of the international medical journal, the Annals of the American Thoracic Society. In March 2017, Dr. Hansen-Flaschen founded the Jay and Randy Fishman Program for Home Assisted Ventilation within the Harron Lung Center at Penn. This endowed program serves adults who require long-term mechanically assisted ventilation for chronic hypoventilation. Application of the latest technology for respiratory support enables people who are disabled by chronic nerve or muscle diseases such as and amyotrophic lateral sclerosis and muscular dystrophy to live at home and engage in their communities. Dr. Hansen-Flaschen is a career medical educator focusing on medical ethics and humanism. His scholarly interests have focused on reducing the burden of advanced lung disease and critical medical illnesses for patients and family members. His many honors include the Praxis Award in Professional Ethics from Villanova University, the Leonard P Lang Award of the American Lung Association, and the Career Achievement Award of the American Thoracic Society.
Mesenchymal Stem CellTherapies for ALS from Dr Nathan Staff
Our speaker, Dr. Nathan Staff from Mayo Clinic, will share the phase 2 study on mesenchymal stem cells derived from patient adipose (fat) tissue as therapy for ALS. Dr. Staff is a neurologist at Mayo Clinic in Rochester, Minnesota, and an associate professor of neurology at the Mayo Clinic College of Medicine and Science. His research focus is to discover new treatments or prevent peripheral nervous system damage that occurs after surgery, from chemotherapy and ALS. Dr. Staff's Translational Neuromuscular Disease Research Lab helps accomplish the development of treatments in the laboratory setting and then apply them in clinical trials. Dr. Staff's research team has led studies focused on mesenchymal stem cells (MSCs) in amyotrophic lateral sclerosis (ALS), having completed a Phase I first-in-human study and launched a Phase II study using these cells. Active clinical trials for the Translational Neuromuscular Disease Research Lab include: Intrathecal Autologous Adipose-Derived Mesenchymal Stromal Cells for Amyotrophic Lateral Sclerosis (ALS) Safety and Efficacy of Repeated Administration of NurOwn in ALS Patients Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS
Guam Disease and ALS by Dr. Paul Allan Cox
Hosted by Everythingals.org. Visit Everythingals.org/research Our speaker, Paul Allan Cox, from Brain Chemistry Labs, will share his journey that led to discovery of L-Serine as a potential drug for ALS. https://brainchemistrylabs.org/lserine As one of the world’s leading ethnobotanists, Dr. Paul Alan Cox has lived in remote island villages searching for new medicines. He was awarded the Goldman Environmental Prize, sometimes known as the Nobel Prize of the Environment and was named one of TIME magazine’s eleven “Heroes of Medicine” for his discovery of the HIV drug prostratin. His conservation foundation, Seacology, has set aside over 1.5 million acres of rain forest and coral reef in 60 countries around the world. Cox was both a Danforth Fellow and a National Science Foundation Fellow at Harvard where he received his Ph.D. He currently serves as the Executive Director of the Brain Chemistry Labs in Jackson Hole, Wyoming, a nonprofit charity focused on finding new treatments for ALS and Alzheimer’s disease.
Behind the Curtains of ALS Clinical Trials by Alexion Pharmaceuticals
Sign up for EverythingALS ALS Research -- Help to discover biomarkers for clinical trial measures and early diagnosis. https://www.everythingals.org/research Our speakers from Alexion Pharmaceuticals will share this very important knowledge -- Behind the Curtain: clinical trials process and overview & update us on Alexion CHAMPION ALS phase 3 Clinical Trial. Wendy Erler will take us behind the curtain of clinical trials process and overview. Wendy has built her patient advocacy career in many rare disease communities and oncology. Wendy Erler is the Vice President of Patient Experience, STAR and Advocacy at Alexion Pharmaceuticals where she is responsible for leading the enterprise innovation model to gather and incorporate patient insights throughout the drug development and commercialization processes. She leads the Global Patient Advocacy function and has responsibility the advocacy team. Previously, Ms. Erler was on the executive leadership team at Wave Life Sciences where she led Patient Advocacy and Commercial. Wendy graduated from Miami University and earned her MBA from St. Joseph’s University. Dr. Erik Kuppmerman will give us an update on Alexion CHAMPION ALS phase 3 Clinical Trial. Erik is an Executive Director and Global Project Team Leader for the Amyotrophic Lateral Sclerosis (ALS) and Guillain-Barré syndrome (GBS) programs at Alexion pharmaceuticals. His passion is leading cross functional project teams, developing and communicating asset strategies in oncology and neurology drug development, both early and late stage. His goal is to continue to bring innovative new medicines to patients. He earned his Doctor of Philosophy (Ph.D.) in Biomedical Sciences from UC San Diego.
Genomics & the Genetics of ALS with Dr. Matthew Harms, MD of Columbia
EverythingALS trial uses advanced computation technology and speech, audio and video data to find ALS biomarkers. signup @ https://www.everythingals.org/research 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