Researchers Identify a New Therapeutic Target for C9orf72-Associated ALS

Researchers supported by The ALS Association announced that they had identified a new protein called SUPT4H1 that has potential to be used in therapy development for people whose ALS is caused by the C9orf72 gene. This research was published in the journal Science by Drs. Aaron Gitler at Stanford University in Stanford, California and Leonard Petrucelli at the Mayo Clinic in Jacksonville, Florida. Read on to learn more about this latest discovery.

Why SUPT4H1?

Drs. Gitler and Petrucelli targeted SUPT4H1 since it was shown that reducing its presence decreases the production of proteins containing long repeat expansions associated with another neurodegenerative disease, Huntington’s disease. However, reduction of SUPT4H1 did not affect expression of normal, non-expanded proteins. Continue reading Researchers Identify a New Therapeutic Target for C9orf72-Associated ALS

NEK1 Discovery: Questions and Answers

Over the last day, The ALS Association has received multiple questions surrounding the NEK1 gene discovery and how it affects people living with ALS. Below are some common questions and our answers, along with places to read more information.

Are NEK1 mutations associated with both familial (inherited) and sporadic (non-inherited) ALS?

Yes – NEK1 mutations are associated with both familial and sporadic ALS. Together, NEK1 is associated with 3% of all ALS cases.

How is the NEK1 gene inherited?

Currently, researchers do not know how the NEK1 gene is inherited, its penetrance (i.e. the proportion of individuals with the NEK1 mutation that show ALS symptoms) or whether the mutation is sufficient alone to cause disease. Researchers are now working diligently to answer these significant questions.

Most familial ALS genes are autosomal dominant for inheritance, meaning that the parent who has a genetic change (mutation) that causes ALS has a 50% chance of passing that mutation to each of his or her children. It is also important to understand that if a person inherits the genetic change, the person is not certain to develop ALS symptoms. Continue reading NEK1 Discovery: Questions and Answers

Breaking Research News: Largest Ever Study of Inherited ALS Identifies New ALS Gene NEK1

[UPDATED AUGUST 8, 2016]:  On August 16, co-leader for the U.S. arm of Project MinE, Dr. John Landers joins Project MinE co-founder Dr. Leonard van den Berg for a Webinar overview of the exciting discovery of NEK1. Mark your calendars today!


[UPDATED JULY 26, 2016]: Over the last day, The ALS Association has received multiple questions surrounding the NEK1 gene discovery and how it affects people living with ALS. For answers to the most common questions, please visit our NEK1 Questions and Answers post.


Today researchers from Project MinE, a large, international ‘big data’ initiative funded by The ALS Association through ALS Ice Bucket Challenge donations*, shared the exciting news that they have identified a new gene, NEK1, that ranks among the most common genes that contribute to ALS.

It is known that 10 percent of ALS cases are familial, meaning genes are inherited from a family member. The other 90 percent of ALS cases are sporadic, or without a family history. It is very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases. The discovery of NEK1 – which is present in both sporadic AND familial ALS – gives scientists an exciting new target for drug development. Continue reading Breaking Research News: Largest Ever Study of Inherited ALS Identifies New ALS Gene NEK1

Brainstorm Announces Positive Results for NurOwn Phase II U.S. Clinical Trial

Today, leadership from Brainstorm Cell Therapeutics announced results from their recently completed U.S. phase II stem cell study of NurOwn® in patients with ALS through a press release and webinar. Below we provide some detail on this study.

Background:

The Brainstorm stem cell trial is based off of NurOwn, which is a cell therapy platform centered on mesenchymal stem cells derived from bone marrow samples given by the participants in the trial. They are induced to secrete neurotrophic factors (MSC-NTF), which are a type of nutrient for cells that was previously show to have protective effects in animal models of neurodegenerative disease. Continue reading Brainstorm Announces Positive Results for NurOwn Phase II U.S. Clinical Trial

ALS Reversals: What Are They and How Can We Make Them Happen More Often?

My name is Rick Bedlack. I am a neurologist at Duke University in Durham North Carolina, and I started the Duke ALS Clinic 16 years ago. I am working to empower people with this disease to live longer and better lives and to have a greater role in research. I currently run the ALSUntangled Program (www.alsuntangled.org) and The Northeast ALS Consortium (NEALS) ALS Clinical Research Learning Institute. This is the story of a new program I recently started called ALS Reversals.

ALS is a degenerative disease of motor neurons, typically characterized by progressive muscle weakness, increasing disability and shortened survivals. It is widely recognized that ALS progression can be variable. It can be variable between patients, with some folks progressing much more slowly than others. It can also be variable within a given patient, with periods where the disease seems to speed up or slow down for a while. Less appreciated is the fact that ALS progression can stop (plateau) or even reverse with significant recovery of lost motor functions. Continue reading ALS Reversals: What Are They and How Can We Make Them Happen More Often?

Neuralstem Phase II Stem Cell Trial Appears Safe

Researchers at Neuralstem Inc. are investigating a potential ALS therapy that involves injecting stem cells into a person’s spinal cord. This week, the results of the phase II study that tested the safety of this type of stem cell transplantation were published in the journal Neurology. Below we give some background on this latest study. Continue reading Neuralstem Phase II Stem Cell Trial Appears Safe

Choice of Stem Cells Can Improve Therapeutic Potential

Stem cell therapy could represent an effective and comprehensive approach to treating ALS. Stefania Corti, M.D., Ph.D., Assistant Professor of Neurology at the University of Milan, and her colleagues set out to find ways to improve stem cell therapy. Their work, supported by The ALS Association, was published on June 6, 2016 in the journal Human Molecular Genetics.

Stem cells are cells that are capable of developing into different cell types, including neurons (brain cells) and glia (brain support cells). Not all stem cells are the same and choosing stem cell populations with specific desirable properties could in fact improve the therapeutic potential of stem cell therapy. Continue reading Choice of Stem Cells Can Improve Therapeutic Potential