Prize4Life is using incentive prizes to accelerate ALS research and treatment development. They have run several successful prize competitions, including a $1 million prize for an ALS biomarker that was awarded in 2011. Their most recent prize was an ALS prediction prize, launched in July 2012 in partnership with IBM's DREAM project, which had over 1000 solvers competing to predict patient progression. The prize was won on November 13, 2012 and demonstrated how incentive prizes can attract many new problem solvers.
This document discusses PowerDsine's intellectual property (IP) strategy of aggressively obtaining patents related to Power over Ethernet (PoE) technology and enforcing those patents through litigation to become the market leader with over 80% market share. It outlines PowerDsine's history of innovation in PoE, contributing to the IEEE 802.3af standard. It also details PowerDsine's extensive portfolio of over 20 PoE-related patents and pending patent applications, as well as other intellectual property. Finally, it discusses PowerDsine's litigation efforts to enforce its patents against infringers and how most cases have settled successfully.
The most common lysosomal storage disease,
Incidence: approximately 1 in 40,000 for non-Jewish populations
Caused by a deficiency of the enzyme glucocerebrosidase
The glycolipid glucocerebroside accumulates in lysosomes of macrophages
Lipid-filled Gaucher cells displace normal cells in
Bone marrow
Spleen
Liver
Lungs
CNS
Skeletal disease is slow to respond to ERT and widely varies.
Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.
The document outlines 7 environmental principles:
1) Nature knows best - natural mechanisms maintain balance despite changes. Disruptions have detrimental effects.
2) All forms of life are important - each organism has a role in ecosystems. Biodiversity is highly concentrated in rainforests.
3) Everything is connected - all parts of the environment interact and affect each other through ecosystems.
4) Everything changes - change is constant but human activities have accelerated rates of change like global warming.
5) Everything goes somewhere - waste decomposes and pollutants can biomagnify in the food chain, affecting human health. Proper disposal and treatment are needed.
6) Ours is a finite earth - the Philippines
Advances in gaucher disease priya kishnani modifiedSanjeev Kumar
This document summarizes advances in understanding and treating Gaucher disease. It discusses the metabolic defect, diagnostic testing, clinical heterogeneity including types 1-3, natural history, assessments, and treatment paradigms including enzyme replacement therapy. Long term follow up of over 1000 patients on enzyme therapy showed reversal of symptoms and normalization of markers. A multidisciplinary team approach is now standard for managing this condition.
This document summarizes information about Duchenne Muscular Dystrophy (DMD), including its genotype and phenotype. DMD is a severe, X-linked form of muscular dystrophy caused by mutations in the DMD gene that encodes dystrophin. Common mutations include exon deletions. This results in progressive muscle degeneration and weakness. Diagnosis involves testing for dystrophin deficiencies. While there is no cure, research focuses on approaches like gene therapy, exon skipping, and drugs to treat symptoms and slow disease progression.
ALS is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord. It causes the motor neurons to gradually degenerate and die, resulting in muscle weakness and atrophy. Over time, this leads to increasing paralysis as more motor neurons are damaged. While the exact causes are unknown, excitotoxicity from glutamate and mutations in genes like SOD1 are thought to be involved in the neurodegeneration. The main treatment is riluzole, which extends life by a few months. Other therapies focus on managing symptoms and maintaining function and quality of life for as long as possible. Regular dental care is important for oral health and to reduce risks of pneumonia. Adaptations may be needed to accommodate physical
Lou Gehrig's Disease, also known as amyotrophic lateral sclerosis (ALS), is a progressive neurodegenerative disease that affects neurons in the brain and spinal cord. It causes weakness and paralysis as the motor neurons die and the brain loses ability to initiate and control muscle movement. There is no cure for ALS, though some drugs can treat symptoms, and researchers are investigating potential genetic and viral causes as the disease sometimes runs in families. Famous individuals like baseball player Lou Gehrig and physicist Stephen Hawking had ALS.
The ALS Ice Bucket Challenge was started to raise awareness and funds for ALS/Lou Gehrig's disease. It involves dumping a bucket of ice water on one's head and challenging others to do the same within 24 hours, or donate to ALS research. The challenge went viral on social media in 2014, with many celebrities participating. It significantly increased donations to ALS associations, with $98.2 million donated from July to August 2014 compared to $2.7 million the prior year. The challenge also dramatically grew visits to ALS association websites and the Wikipedia page on ALS.
This document discusses PowerDsine's intellectual property (IP) strategy of aggressively obtaining patents related to Power over Ethernet (PoE) technology and enforcing those patents through litigation to become the market leader with over 80% market share. It outlines PowerDsine's history of innovation in PoE, contributing to the IEEE 802.3af standard. It also details PowerDsine's extensive portfolio of over 20 PoE-related patents and pending patent applications, as well as other intellectual property. Finally, it discusses PowerDsine's litigation efforts to enforce its patents against infringers and how most cases have settled successfully.
The most common lysosomal storage disease,
Incidence: approximately 1 in 40,000 for non-Jewish populations
Caused by a deficiency of the enzyme glucocerebrosidase
The glycolipid glucocerebroside accumulates in lysosomes of macrophages
Lipid-filled Gaucher cells displace normal cells in
Bone marrow
Spleen
Liver
Lungs
CNS
Skeletal disease is slow to respond to ERT and widely varies.
Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.
The document outlines 7 environmental principles:
1) Nature knows best - natural mechanisms maintain balance despite changes. Disruptions have detrimental effects.
2) All forms of life are important - each organism has a role in ecosystems. Biodiversity is highly concentrated in rainforests.
3) Everything is connected - all parts of the environment interact and affect each other through ecosystems.
4) Everything changes - change is constant but human activities have accelerated rates of change like global warming.
5) Everything goes somewhere - waste decomposes and pollutants can biomagnify in the food chain, affecting human health. Proper disposal and treatment are needed.
6) Ours is a finite earth - the Philippines
Advances in gaucher disease priya kishnani modifiedSanjeev Kumar
This document summarizes advances in understanding and treating Gaucher disease. It discusses the metabolic defect, diagnostic testing, clinical heterogeneity including types 1-3, natural history, assessments, and treatment paradigms including enzyme replacement therapy. Long term follow up of over 1000 patients on enzyme therapy showed reversal of symptoms and normalization of markers. A multidisciplinary team approach is now standard for managing this condition.
This document summarizes information about Duchenne Muscular Dystrophy (DMD), including its genotype and phenotype. DMD is a severe, X-linked form of muscular dystrophy caused by mutations in the DMD gene that encodes dystrophin. Common mutations include exon deletions. This results in progressive muscle degeneration and weakness. Diagnosis involves testing for dystrophin deficiencies. While there is no cure, research focuses on approaches like gene therapy, exon skipping, and drugs to treat symptoms and slow disease progression.
ALS is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord. It causes the motor neurons to gradually degenerate and die, resulting in muscle weakness and atrophy. Over time, this leads to increasing paralysis as more motor neurons are damaged. While the exact causes are unknown, excitotoxicity from glutamate and mutations in genes like SOD1 are thought to be involved in the neurodegeneration. The main treatment is riluzole, which extends life by a few months. Other therapies focus on managing symptoms and maintaining function and quality of life for as long as possible. Regular dental care is important for oral health and to reduce risks of pneumonia. Adaptations may be needed to accommodate physical
Lou Gehrig's Disease, also known as amyotrophic lateral sclerosis (ALS), is a progressive neurodegenerative disease that affects neurons in the brain and spinal cord. It causes weakness and paralysis as the motor neurons die and the brain loses ability to initiate and control muscle movement. There is no cure for ALS, though some drugs can treat symptoms, and researchers are investigating potential genetic and viral causes as the disease sometimes runs in families. Famous individuals like baseball player Lou Gehrig and physicist Stephen Hawking had ALS.
The ALS Ice Bucket Challenge was started to raise awareness and funds for ALS/Lou Gehrig's disease. It involves dumping a bucket of ice water on one's head and challenging others to do the same within 24 hours, or donate to ALS research. The challenge went viral on social media in 2014, with many celebrities participating. It significantly increased donations to ALS associations, with $98.2 million donated from July to August 2014 compared to $2.7 million the prior year. The challenge also dramatically grew visits to ALS association websites and the Wikipedia page on ALS.
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
The document discusses amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a progressive neuromuscular condition that affects motor neurons in the brain and spinal cord. Key symptoms include muscle weakness, atrophy, spasms, and increased reflexes. While sensory and cognitive functions remain intact, over time patients have increasing problems with movement, swallowing, speaking and breathing. There is currently no cure for ALS, though treatments aim to reduce symptoms and multidisciplinary care can help prolong life expectancy and quality of life. Occupational therapy focuses on maintaining independence through adaptive equipment and strategies.
This document provides information on various types of muscular dystrophy, including Duchenne Muscular Dystrophy (DMD). It discusses the causes, classifications, signs and symptoms, diagnosis, and management of different muscular dystrophies. Specifically for DMD, it describes the genetic basis involving defects in the DMD gene and dystrophin protein, clinical features from early childhood to late stages, and approaches to diagnosis and management focusing on symptom relief and treatment of cardiac and pulmonary complications.
ALS is a neurodegenerative disease that affects motor neurons in the brain and spinal cord. It causes progressive muscle weakness and atrophy. There is currently no cure, and the average survival time is 3-5 years from symptom onset. Riluzole is the only approved treatment shown to modestly prolong survival. Supportive care focuses on managing symptoms like spasticity, secretions, and respiratory failure to prolong function and quality of life. The ice bucket challenge raised significant funds for ALS research. Diagnosis requires ruling out other causes and demonstrating both upper and lower motor neuron signs that progress over time.
Gaucher disease type 1case presentationSanjeev Kumar
A 6-year-old male presented with progressive abdominal distension and hepatosplenomegaly since age 3. Investigations found pancytopenia, elevated chitotriosidase and reduced glucocerebrosidase enzyme levels, confirming a diagnosis of Gaucher disease type 1. He was started on enzyme replacement therapy to manage his symptoms and prevent further complications.
21 June: The Global Day for Amyotrophic Lateral Sclerosisguimera
ALS is a progressive neurological disease that causes the motor neurons controlling voluntary muscles to break down and die. This results in worsening muscle weakness, atrophy, and spasticity over time. There is no cure for ALS, but symptoms can be treated to prolong survival and quality of life. The cause is largely unknown, though some genetic factors have been identified. Most people live 3-5 years after diagnosis but about 10% of cases are inherited and can have longer survival times. Research continues toward finding effective treatments that target the underlying causes and pathways of the disease.
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
This document summarizes advances in understanding and treating Gaucher disease from the past to present and future prospects. It describes key findings such as the identification of the metabolic defect, development of diagnostic tests, characterization of the Gaucher cell, and establishment of enzyme replacement therapy as an effective treatment that improves outcomes. The summary also notes areas of ongoing research including potential new treatments like chaperone therapy, gene therapy and small molecule approaches, as well as emerging links between Gaucher disease and Parkinson's disease.
A study led by Professor Matthew Disney of the Scripps Research Institute identified a genetic mutation responsible for ALS and FTD. Researchers developed a small molecule drug that targets this mutation, which impacts the C90RF72 gene and creates toxic proteins. When tested, the drug prevented the translation of the abnormal proteins, providing hope for future treatment options for these currently incurable diseases.
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness. It is caused by mutations in the gene encoding dystrophin, and mainly affects boys. Clinical features include difficulty walking, calf pseudohypertrophy, loss of ambulation by age 12, wheelchair dependence, scoliosis, and death often by age 18 from respiratory or cardiac failure. Diagnosis involves elevated creatine kinase levels, muscle biopsy showing dystrophin deficiency, and genetic testing. There is no cure, but management focuses on maintaining mobility and function.
Huntington's disease is a genetic disorder where nerve cells in the brain deteriorate, typically causing death within 10 to 30 years of symptoms appearing. It is caused by a defective gene on chromosome 4 that causes abnormal repetition of the CAG sequence. Anyone can develop the disease if they inherit the defective gene from a parent. While there are no cures, treatments can help manage symptoms, and in vitro fertilization with pre-implantation screening allows selection of embryos without the gene to prevent passing it to children.
Fragile X Syndrome (FXS) is caused by a mutation on the X chromosome involving expansion of the CGG repeat in the FMR1 gene. This leads to hypermethylation and reduced production of the Fragile X Mental Retardation Protein (FMRP). Lack of FMRP results in excessive mGluR signaling and protein synthesis at synapses. FXS is characterized by intellectual disability, autism-like behaviors, and various physical features. Testing involves genetic tests like PCR and Southern blot. Treatment focuses on mGluR antagonists to reduce excessive signaling, with several drugs in clinical trials showing promise based on preclinical findings in animal models of FXS.
Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene that result in a defective chloride channel protein. This leads to thick, sticky mucus in the lungs and other organs. In the lungs, the mucus clogs the airways and traps bacteria, causing chronic lung infections. While treatments can help manage symptoms, the only cure would be gene therapy to replace the defective gene or provide the normal protein before damage occurs. The goal of treatment is to clear the lungs of mucus and control infections.
Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene leading to progressive muscle weakness. It mainly affects boys and symptoms start between ages 2-3. Affected children become wheelchair bound by age 12 and have life-threatening heart, respiratory, and orthopedic complications if not properly managed. Management involves monitoring for cardiomyopathy, respiratory support, orthopedic care, corticosteroids which can prolong ambulation, and future therapies like gene therapy aim to treat the underlying genetic cause.
Cystic Fibrosis is a genetic disorder caused by mutations in the CFTR gene. It causes thick, sticky mucus to build up in the lungs, digestive tract and other organs. Common symptoms include persistent coughing, wheezing, foul-smelling stool, and salty-tasting skin. There is no cure, but treatments aim to clear mucus from the lungs and improve nutrition. Life expectancy has increased to over 37 years on average with advances in care.
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Duchenne muscular dystrophy is a genetic disorder caused by the absence of the dystrophin protein. It is characterized by progressive muscle degeneration and weakness. Symptoms begin in early childhood and worsen over time, often resulting in the need for a wheelchair in the early teens. While there is no cure, treatment focuses on managing symptoms and complications to improve quality of life. Research is ongoing to develop new treatments such as stem cell therapy and gene therapy.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord. The document discusses the pathology, epidemiology, clinical presentation, diagnosis, and management of ALS. Key points include that ALS causes the degeneration of upper and lower motor neurons, leading to muscle weakness, atrophy, and fasciculations. The average age of onset is in the mid-50s. Diagnosis is based on clinical signs and requires the exclusion of other potential causes through laboratory testing. Currently, riluzole is the only approved treatment and modestly prolongs survival. Management involves a multidisciplinary approach to address symptoms like weakness, fatigue, nutrition, and
Why there needs to be open data for ultra-rare and rare disease drug discoverySean Ekins
ACS presentation 11th Aug San Francisco on the need for open data in ultra rare and rare diseases. Describes efforts of parent/ patient advocates to fund drug discovery research. Also it describes software for open collaboration and what needs to be done to create software champions for rare diseases. Mentions diseases like Sanfilippo Syndrome, giant axonal neuropathy and Charcot Marie Tooth. Apps like ODDT are also mentioned as a means to share data.
Disrupting drug discovery one disease at a timeSean Ekins
This document discusses efforts to accelerate research for rare disease MPSIIIC through open science and partnerships. An organization called Jonah's Just Begun is partnering with scientists, clinicians, other patient groups, and a company called Phoenix Nest to pursue multiple treatment approaches including gene therapy, substrate reduction, and mutation correction. Early diagnosis of the main patient Jonah allowed early intervention and the formation of a global network to share knowledge and accelerate research that may find treatments in his lifetime. Open data sharing, patient engagement, and disrupting traditional models are seen as ways to further progress. Support is needed for increased awareness, diagnostics, and funding to move the efforts beyond the current scope.
Founded in 2016, the Glioblastoma Foundation. stands as the premier nonprofit organization in the United States, committed to battling organization of a terminal stage 4 brain tumor. Located at 2451 Croasdaile Farm Parkway, Suite 109 in Durham, NC, the foundation has a national presence, supporting patients from coast to coast while also financing groundbreaking research for a cure.
The Arthritis National Research Foundation is the only charity solely focused on funding arthritis research to cure arthritis. With your help this arthritis foundation can support more arthritis research and find a cure. Please make a donation or get involved today!
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
The document discusses amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a progressive neuromuscular condition that affects motor neurons in the brain and spinal cord. Key symptoms include muscle weakness, atrophy, spasms, and increased reflexes. While sensory and cognitive functions remain intact, over time patients have increasing problems with movement, swallowing, speaking and breathing. There is currently no cure for ALS, though treatments aim to reduce symptoms and multidisciplinary care can help prolong life expectancy and quality of life. Occupational therapy focuses on maintaining independence through adaptive equipment and strategies.
This document provides information on various types of muscular dystrophy, including Duchenne Muscular Dystrophy (DMD). It discusses the causes, classifications, signs and symptoms, diagnosis, and management of different muscular dystrophies. Specifically for DMD, it describes the genetic basis involving defects in the DMD gene and dystrophin protein, clinical features from early childhood to late stages, and approaches to diagnosis and management focusing on symptom relief and treatment of cardiac and pulmonary complications.
ALS is a neurodegenerative disease that affects motor neurons in the brain and spinal cord. It causes progressive muscle weakness and atrophy. There is currently no cure, and the average survival time is 3-5 years from symptom onset. Riluzole is the only approved treatment shown to modestly prolong survival. Supportive care focuses on managing symptoms like spasticity, secretions, and respiratory failure to prolong function and quality of life. The ice bucket challenge raised significant funds for ALS research. Diagnosis requires ruling out other causes and demonstrating both upper and lower motor neuron signs that progress over time.
Gaucher disease type 1case presentationSanjeev Kumar
A 6-year-old male presented with progressive abdominal distension and hepatosplenomegaly since age 3. Investigations found pancytopenia, elevated chitotriosidase and reduced glucocerebrosidase enzyme levels, confirming a diagnosis of Gaucher disease type 1. He was started on enzyme replacement therapy to manage his symptoms and prevent further complications.
21 June: The Global Day for Amyotrophic Lateral Sclerosisguimera
ALS is a progressive neurological disease that causes the motor neurons controlling voluntary muscles to break down and die. This results in worsening muscle weakness, atrophy, and spasticity over time. There is no cure for ALS, but symptoms can be treated to prolong survival and quality of life. The cause is largely unknown, though some genetic factors have been identified. Most people live 3-5 years after diagnosis but about 10% of cases are inherited and can have longer survival times. Research continues toward finding effective treatments that target the underlying causes and pathways of the disease.
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
This document summarizes advances in understanding and treating Gaucher disease from the past to present and future prospects. It describes key findings such as the identification of the metabolic defect, development of diagnostic tests, characterization of the Gaucher cell, and establishment of enzyme replacement therapy as an effective treatment that improves outcomes. The summary also notes areas of ongoing research including potential new treatments like chaperone therapy, gene therapy and small molecule approaches, as well as emerging links between Gaucher disease and Parkinson's disease.
A study led by Professor Matthew Disney of the Scripps Research Institute identified a genetic mutation responsible for ALS and FTD. Researchers developed a small molecule drug that targets this mutation, which impacts the C90RF72 gene and creates toxic proteins. When tested, the drug prevented the translation of the abnormal proteins, providing hope for future treatment options for these currently incurable diseases.
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness. It is caused by mutations in the gene encoding dystrophin, and mainly affects boys. Clinical features include difficulty walking, calf pseudohypertrophy, loss of ambulation by age 12, wheelchair dependence, scoliosis, and death often by age 18 from respiratory or cardiac failure. Diagnosis involves elevated creatine kinase levels, muscle biopsy showing dystrophin deficiency, and genetic testing. There is no cure, but management focuses on maintaining mobility and function.
Huntington's disease is a genetic disorder where nerve cells in the brain deteriorate, typically causing death within 10 to 30 years of symptoms appearing. It is caused by a defective gene on chromosome 4 that causes abnormal repetition of the CAG sequence. Anyone can develop the disease if they inherit the defective gene from a parent. While there are no cures, treatments can help manage symptoms, and in vitro fertilization with pre-implantation screening allows selection of embryos without the gene to prevent passing it to children.
Fragile X Syndrome (FXS) is caused by a mutation on the X chromosome involving expansion of the CGG repeat in the FMR1 gene. This leads to hypermethylation and reduced production of the Fragile X Mental Retardation Protein (FMRP). Lack of FMRP results in excessive mGluR signaling and protein synthesis at synapses. FXS is characterized by intellectual disability, autism-like behaviors, and various physical features. Testing involves genetic tests like PCR and Southern blot. Treatment focuses on mGluR antagonists to reduce excessive signaling, with several drugs in clinical trials showing promise based on preclinical findings in animal models of FXS.
Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene that result in a defective chloride channel protein. This leads to thick, sticky mucus in the lungs and other organs. In the lungs, the mucus clogs the airways and traps bacteria, causing chronic lung infections. While treatments can help manage symptoms, the only cure would be gene therapy to replace the defective gene or provide the normal protein before damage occurs. The goal of treatment is to clear the lungs of mucus and control infections.
Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene leading to progressive muscle weakness. It mainly affects boys and symptoms start between ages 2-3. Affected children become wheelchair bound by age 12 and have life-threatening heart, respiratory, and orthopedic complications if not properly managed. Management involves monitoring for cardiomyopathy, respiratory support, orthopedic care, corticosteroids which can prolong ambulation, and future therapies like gene therapy aim to treat the underlying genetic cause.
Cystic Fibrosis is a genetic disorder caused by mutations in the CFTR gene. It causes thick, sticky mucus to build up in the lungs, digestive tract and other organs. Common symptoms include persistent coughing, wheezing, foul-smelling stool, and salty-tasting skin. There is no cure, but treatments aim to clear mucus from the lungs and improve nutrition. Life expectancy has increased to over 37 years on average with advances in care.
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Duchenne muscular dystrophy is a genetic disorder caused by the absence of the dystrophin protein. It is characterized by progressive muscle degeneration and weakness. Symptoms begin in early childhood and worsen over time, often resulting in the need for a wheelchair in the early teens. While there is no cure, treatment focuses on managing symptoms and complications to improve quality of life. Research is ongoing to develop new treatments such as stem cell therapy and gene therapy.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord. The document discusses the pathology, epidemiology, clinical presentation, diagnosis, and management of ALS. Key points include that ALS causes the degeneration of upper and lower motor neurons, leading to muscle weakness, atrophy, and fasciculations. The average age of onset is in the mid-50s. Diagnosis is based on clinical signs and requires the exclusion of other potential causes through laboratory testing. Currently, riluzole is the only approved treatment and modestly prolongs survival. Management involves a multidisciplinary approach to address symptoms like weakness, fatigue, nutrition, and
Why there needs to be open data for ultra-rare and rare disease drug discoverySean Ekins
ACS presentation 11th Aug San Francisco on the need for open data in ultra rare and rare diseases. Describes efforts of parent/ patient advocates to fund drug discovery research. Also it describes software for open collaboration and what needs to be done to create software champions for rare diseases. Mentions diseases like Sanfilippo Syndrome, giant axonal neuropathy and Charcot Marie Tooth. Apps like ODDT are also mentioned as a means to share data.
Disrupting drug discovery one disease at a timeSean Ekins
This document discusses efforts to accelerate research for rare disease MPSIIIC through open science and partnerships. An organization called Jonah's Just Begun is partnering with scientists, clinicians, other patient groups, and a company called Phoenix Nest to pursue multiple treatment approaches including gene therapy, substrate reduction, and mutation correction. Early diagnosis of the main patient Jonah allowed early intervention and the formation of a global network to share knowledge and accelerate research that may find treatments in his lifetime. Open data sharing, patient engagement, and disrupting traditional models are seen as ways to further progress. Support is needed for increased awareness, diagnostics, and funding to move the efforts beyond the current scope.
Founded in 2016, the Glioblastoma Foundation. stands as the premier nonprofit organization in the United States, committed to battling organization of a terminal stage 4 brain tumor. Located at 2451 Croasdaile Farm Parkway, Suite 109 in Durham, NC, the foundation has a national presence, supporting patients from coast to coast while also financing groundbreaking research for a cure.
The Arthritis National Research Foundation is the only charity solely focused on funding arthritis research to cure arthritis. With your help this arthritis foundation can support more arthritis research and find a cure. Please make a donation or get involved today!
Building Up the Apollo Brain Data Exchange PortalSharpBrains
We will discuss opportunities and challenges arising from this core initiative, spearheaded by One Mind for Research, to provide open access to vast amounts of data and help close the gap between basic research and health outcomes.
- Chair: Alvaro Fernandez, CEO of SharpBrains
- Pete Chiarelli, CEO of One Mind for Research, U.S. Army General (Ret)
Session Two: Barriers to investment in research to find a disease modifying therapy or cure for dementia
Dr Neil Buckholtz , Director of Neuroscience, the National Institute on Aging (NIA), National Institutes of Health (NIH)
This document discusses a research project conducted by a Rural Clinical School investigating the prevalence of Malignant Hyperthermia in a local community. The project aimed to determine the population at risk, assist in building family genetic pedigrees, and evaluate genetic testing as a screening tool. It engaged the local community and medical centers, recruited 66 family members for testing, and found no known mutations though previous testing was unclear for many. The Rural Clinical School facilitated the research by linking the community to specialized medical facilities.
'More than a top 10' presentation impact coffee club 4th feb 2020 (1)Claire Vaughan
How James Lind Alliance priority setting partnerships transform research, people and organisations - presentation from the AMRC/NIHR Impact Coffee Club, Tues 04 Feb 2020
The document discusses the International Rare Disease Research Consortium (IRDiRC), which aims to deliver 200 new therapies and means to diagnose most rare diseases by 2020. It outlines IRDiRC's goals of international cooperation and data sharing between public and private funders. Over $1B has been committed worldwide by over 30 member organizations. Progress includes identifying genes for over 3,400 rare diseases and tests for over 3,300. 137 new therapies have been developed so far. Challenges include increasing gene discovery rates and establishing unified databases. Initiatives to address these include PhenoTips and Matchmaker Exchange for matching unsolved cases.
Evaluating medical evidence for journalistsIvan Oransky
This document provides tips for journalists on evaluating medical evidence from studies. It discusses issues like the reliability of peer review and publication bias. It also covers challenges like overreliance on embargoed studies, how often studies are later found to be wrong, and the rise in retractions. The document provides advice on getting studies, assessing study quality, considering benefits and harms, and maintaining objectivity. It emphasizes the importance of reading full studies rather than just press releases or abstracts. Overall, the document aims to help journalists critically evaluate medical studies and provide accurate reporting to readers.
This document discusses communicating about sensitive medical topics with different audiences. It provides tips for discussing dementia risk factors and unproven treatments with the general public, people with dementia, the press, and patient organizations. The roles of patient organizations in facilitating informed personal choices about off-label treatments are described. Examples are given of resources like ALSUntangled that provide objective information on alternative treatments. The importance of consent, informing family, and the possibility of body donation rejection are covered in relation to donating one's body to medical science. The challenges of involving the public in clinical research through initiatives like Tissue Access for Patient Benefit are also summarized.
GMRF’s 10 year anniversary annual report showcases their incredible achievements and advancements in research to enhance the health of the Australian community. Hanrick Curran is proud to support of GMRF and the milestones reached in the last decade.
Down Syndrome Cognition Research 101: An Introductionplus15campaign
This document summarizes a presentation given on World Down Syndrome Day about Down syndrome cognition research. It discusses the mission of the Down Syndrome Research and Treatment Foundation to fund research to improve cognition for individuals with Down syndrome. It provides an overview of the organization's history, research strategy, and results including identifying 8 potential drug targets and supporting 3 clinical trials. The presentation also discusses cognitive challenges for those with Down syndrome and how targeting memory systems and related mechanisms could help improve learning, memory, and independence.
This document summarizes the Big Data in Medicine: Prize4Life ALS Prediction Challenge. The challenge calls on solvers to develop an algorithm to predict amyotrophic lateral sclerosis (ALS) disease progression over 9 months based on patient data from clinical trials over the first 3 months. The solver with the algorithm producing the smallest error compared to actual patient outcomes will win $25,000. The goal is to accelerate ALS treatment development by reducing clinical trial costs through better patient stratification and trial design.
Growing Stronger Research Fund Overview Jan 2012 For DonorsAmer Haider
Growing Stronger Research Fund aims to accelerate medical research to improve quality of life for people with Achondroplasia, the most common form of dwarfism. Their goal is to eliminate the need for multiple orthopedic surgeries by developing drug therapies. They are currently funding four research strategies, including blocking expression of the mutant gene or disabling the mutant protein. Their next steps are to raise $600,000 over three years to support additional lab testing and advance promising strategies toward clinical trials and approval.
The document discusses the formation and goals of the Global Alliance for Genomics and Health. It was started in 2013 to facilitate international sharing of genomic and clinical data. Its goals are to establish common frameworks for data sharing, catalyze specific data sharing projects, and demonstrate the value of aggregating data from many sources. It currently has over 200 partner organizations from 30 countries. Working groups are advancing priorities around regulatory issues, data standards, security, and clinical implementation. The alliance aims to create a growing, sustainable network that continuously improves understanding of human health through large-scale data sharing and analysis.
Global research into Alzheimer's and dementia is needed to address the growing global crisis of these diseases. Alzheimer's Research UK works to increase awareness of dementia as brain diseases, fund scientific research around the world, and translate scientific findings into new treatments through partnerships like the Dementia Consortium and Drug Discovery Alliance. The UK government has also made a Challenge on Dementia 2020 to accelerate progress toward prevention, diagnosis, research and care.
AzCI presents: Working with Your Demographic Market (in Orphan Drug Development)AnitaBell
Arizona Center for Innovation (AzCI) presents: Working with Your Demographic Market (in orphan drug development)
This presentation is part of a series developed for a workshop on "How to Navigate the Biotech Regulatory Process"
The Arizona Center for Innovation is an incubator and innovation center and provides resources in support of startups getting to the next level and become successful enterprises.
Agile Day Twin Cities - Lightning Talk (Repko)Brian Repko
This document discusses product agility when developing treatments for diseases like cancer. It describes the complex and iterative process of drug discovery and development at Novartis, involving thousands of experiments, assays, and clinical trials across multiple sites. It emphasizes the need for continuous learning, visualizing complexity through various data sources, forming product teams of different experts, planning experiments to learn key scientific questions, and collaborating to clarify goals and explore new approaches. The overall process involves blending discovery work with clinical evaluation in an agile manner to efficiently gain knowledge and progress potential new treatments.
Ben-Gurion International Airport implemented a security concept during Operation Protective Edge to protect the airport from rocket attacks by Hamas. The security division operates under the airport managing director and is responsible for preventing attacks on aircraft, in the airport grounds, and admitting explosives. The security concept combines human security officers and advanced technologies. It uses security circles and zones, as well as automated foreign object detection on runways to maintain airport operations during threats of rocket attacks. During Operation Protective Edge, over 4,000 rockets were fired at Israel but none struck the airport grounds, allowing airport activities to continue without interruption.
This document provides an overview of a counter terrorism management system that aims to increase national security capabilities. It describes the system's goal of managing all aspects of a national security service's operations, including mission planning, intelligence gathering and analysis, mission execution and control, and debriefing. It then outlines the system's concept of operations, scope, and key components such as command centers, communication systems, intelligence capabilities, and command and control functions to support counterterrorism operations and management.
This document discusses the challenges that businesses face in effectively marketing to customers and retaining them in today's digital landscape. It notes that identifying what customers want and better delivering it will be crucial to success, as competitors constantly try to win customers over. The document then outlines Software AG's experience in helping organizations transform digitally to better engage customers through solutions that leverage trends in social, mobile, cloud and big data. It highlights Gartner and Forrester rankings that recognize Software AG as a leader in several product categories.
This document discusses different approaches to scaling blockchain technology, including off-chain solutions, alternative blockchains, and merge mining. It then introduces a new concept called "tree chains" which aims to scale blockchains by splitting and distributing them. Tree chains claim to scale by dividing the blockchain across multiple distributed ledgers while maintaining security through cooperation between individuals.
The document discusses air pollution and how everything manufactured releases harmful gases into the air. It suggests using an app called BreezoMeter to check air quality levels so families know where and when is healthiest to exercise outdoors without risk of sickness from pollution. Brief biographies are provided for the Breezo co-founders who have backgrounds in environmental engineering, software, and business.
This document discusses factors for success in innovation, particularly for clean technologies. It outlines that innovation is the process of changing the world, not just invention. It then discusses several lessons learned for innovation, including that subject matter expertise is not always necessary, having a "can do" culture is important, thinking both inside and outside the box, taking unusual business approaches, advances enabled by nanotechnology, and setting new rules in areas like energy storage and sharing. The document advocates taking on big challenges through collaboration and outlines some examples of prize competitions to spur innovation.
GenCell provides backup power solutions using alkaline fuel cell technology. Their fuel cells can provide clean, reliable backup power for as long as needed. GenCell fuel cells offer several advantages over diesel generators and batteries including longer duration backup from a single fuel source, higher efficiency, and lower fuel costs through the use of ammonia. GenCell is also developing hybrid and off-grid solutions to provide continuous power using their fuel cells combined with batteries and renewable energy sources.
Two researchers, Boaz Melnik and Nitzan Hoorgin, have developed a super cheap and energy efficient air conditioner that can be built at home for a very low budget using common materials. Their design costs only $90 to make and uses passive cooling techniques to circulate air for up to 6 hours and cool an area of 1.5 meters. It has the potential to provide relief from heat for hundreds of millions of people worldwide who cannot otherwise afford air conditioning.
This document introduces GreenSpense, a new propellant-free continuous dispensing technology. GreenSpense aims to eliminate the drawbacks of traditional pressurized dispensing methods such as high costs, safety issues, and limited material options. It claims to be more eco-friendly by reducing greenhouse gas emissions and allowing for less preservatives. GreenSpense also aims to unleash packaging design creativity by enabling any material and shape. It is presented as reducing production and transportation costs. The technology has received recognition from cleantech competitions and the document promotes joining the "propellant-free revolution."
EVR Motors has developed a new direct drive generator for wind turbines that is at least 50% lighter than existing designs. Their generator uses a novel axial flux permanent magnet topology that reduces the overall costs of a wind turbine by approximately 20% compared to traditional radial flux permanent magnet designs. EVR's 27.5kW generator is over 200% lighter and 12% more efficient than comparable generators from Italy and China. EVR plans to initially produce and market small scale turbines under 100kW and license their technology for larger turbines over 1MW to wind turbine manufacturers.
This document summarizes the findings of the "Global Cleantech Innovation Index 2014" report. The report analyzed which countries have the greatest potential to produce entrepreneurial cleantech start-up companies over the next 10 years. Israel placed first overall, scoring highest in emerging cleantech innovation drivers. This is due to Israel demonstrating the greatest density of high-impact cleantech start-ups and strengths in areas like business sophistication, entrepreneurial culture, venture capital activity, and environmental patents.
AutoAgronom Ltd. is an agricultural technology company that has developed a system called AutoAgronom to precisely control nutrient delivery to plants. Field tests show their system has increased crop yields by up to 1200% while reducing water and fertilizer use by up to 75% and 50% respectively compared to traditional farming practices. The system monitors soil conditions and delivers nutrients as needed through capillary action and automatic delivery, adapting nutrient levels for day and night cycles to optimize plant growth. AutoAgronom's system outperformed competitors by better controlling nutrient levels, moisture, and oxygen availability in soils.
This document provides an overview of key legal and business issues for Israeli startup companies entering the US market through New York State. It discusses New York's startup programs and regions favorable for tech companies. While 600-700 Israeli startups are formed each year, only 1,000 successfully raise local funding, so some seek opportunities in the large and diverse US market. The document outlines steps for establishing a US entity, addressing taxation, intellectual property, financing, hiring employees, office space, and immigration status. It aims to help Israeli founders navigate important rules and regulations for entering the US market.
The document discusses two career paths: aerospace engineering and medical. Aerospace engineering involves designing and testing aircraft, spacecraft, satellites and missiles while medical careers focus on helping patients and involve roles like physician, nurse or physical therapist. Both fields offer rewarding work but require extensive education and training.
Big Data in context provides new insights. With more data, predictions can be better by lowering false positives and negatives. More data also requires more context to make sense of it all. Space and time data in particular enables new levels of understanding identities and relationships.
This document discusses big data and provides examples to illustrate key concepts. It begins by defining big data in terms of volume, velocity, and variety of data from various sources like the internet and social networks. It then discusses enterprise information systems and new paradigms for storing, processing, and communicating large amounts of data using cloud computing and distributed systems. Examples are given of how data can be analyzed to gain insights and knowledge to inform decision making, such as what products people buy before hurricanes. The document outlines the big data technology stack and discusses tools for capturing data, processing it, analyzing correlations and causality, and formulating hypotheses. Finally, it provides the specific example of SportVU, a player tracking technology, to demonstrate how
Xplenty provides a cloud-based, Hadoop-as-a-Service solution that allows organizations of any size to easily harness the power of big data without needing Hadoop skills. Their platform includes visualization tools and support for both structured and unstructured data stored in cloud databases.
1. THE NEXT ALS BREAKTHROUGH COULD BE YOURS
Prize4Life: on the road to finding a cure
to ALS disease
Presentation to MIT Enterprise Forum Israel
Nov. 2012
PRIZE4LIFE.ORG
2. What is ALS (Lou Gehrig’s disease)?
A neurodegenerative disease, Amyotrophic
lateral sclerosis (ALS) is also referred to as
‘motor neurone disease‘
Rapid and progressive paralysis of unknown
cause, 100% lethal
Death within 2-5 years from diagnosis
(respiratory failure)
First clinically identified in 1869--over 140
years ago
Only existing FDA-approved treatment
prolongs life by 2-3 months
Affects both men and women primarily in mid-
life but can strike at any adult age (including
rarely in teenagers)
PRIZE4LIFE.ORG
3. ALS presents a clear unmet medical need
No • No disease modifying therapies available
treatment
• ALS strikes as many people as Multiple Sclerosis, and more people than
Need
Fit with Huntington’s Disease, but because ALS is so rapidly fatal, at any given time
increasing
Teva there are fewer people alive with ALS
• Orphan disease with estimated 30,000 individuals affected in the U.S. at
any given time and 600,000 worldwide
• In the industrialized world, more than one in 500 people die of ALS
• With aging, prevalence of ALS- and associated costs- are likely to increase
• Disease cost is extremely high for patients and families – financial and
High cost emotional burden
• $160,000/year for in-home treatment; US$430,000/year for
institution-based treatment
PRIZE4LIFE.ORG
4. So what’s holding us back?
The challenges facing ALS are typical of those in the broader neuro space
Drug development The brain is hard to access
High fail rate
is hard Expensive
Complex and unpredictable regulatory environment
Hard to cross the “Valley of Death”
The nervous system is REALLY complex
Fit with Teva
Basic research Animal models have not yet led to treatments
is hard Multiple levels of analysis difficult to integrate
Incentives are Publish or perish
Incentives for data sharing often lacking
misaligned Few data standards
Clinical research viewed as less attractive than basic research
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PRIZE4LIFE.ORG
5. Due to these challenges, innovation in basic research
often isn’t translated into direct patients’ benefit
Research – Development - Access:
Universities/ “Valley Health Systems
Research of Biotech – Hospitals
Institutions Death” Pharma Health Services
“Valley of Death” = gap between academic research and industry
involvement
Without industry commitment, basic research does not get
translated into tangible results for patients
PRIZE4LIFE.ORG
6. The drug discovery gap: valley of death
Basic Research
• Academic researchers Academia
have typically focused on Disease Mechanism
understanding biological
fundamentals and
Target Identification
disease mechanisms
• Industry focus is now on Assay Development
the later stages of drug
development Valley of Death Screening
• This gap is particularly Lead Optimization
worrisome in the context
of ALS and other Preclinical Development
neurodegenerative
disorders Clinical Trials
Industry
Submission/ Approval
PRIZE4LIFE.ORG
7. Prize4Life: an organization with the sole purpose
of being terminated
Prize4Life is an innovative, results-oriented 501(c)(3) not-for-
profit organization focusing exclusively on ALS
Founded by a group of Harvard Business School students in
2006 after one of their classmates—Avichai (Avi) Kremer—
was diagnosed with ALS at the age of 29
Prize4Life has embraced the Incentive Prize Model to change
the landscape for ALS research
We are small but have grown quickly from 2 staff (2007), to
our current staff of 6 (2012). P4L has raised +$9M for ALS
since 2005
PRIZE4LIFE.ORG
8. From the get-go, Prize4Life’s mission statement was
developed to be both inspirational and pragmatic
Mission Statement
To accelerate the discovery of treatments and a
cure for ALS by using powerful incentives to
attract new people and drive innovation
CONFIDENTIAL PP R I Z E 4 L I F E . O R G
RIZE4LIFE.ORG
9. Prize4Life’s approach: how can we make ALS
breakthroughs more likely
Triple mission
Accelerate existing efforts in ALS research
o Create new tools
o Promote new collaborations
Bring new ideas and new minds into the field
Complement existing funding models
o Draw attention to ALS research
o Raise funding from previously untapped sources
Leverage is our operating principle
Inclusive approach
All of Prize4Life’s programs are designed to accelerate ALS
therapy development across the board and are open to all
(“lift all boats”, “we don’t bet on one horse, we focus on
improving the entire track”)
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PRIZE4LIFE.ORG
10. Over the years, Prize4Life has been launching incentive
prizes and spearheaded several infrastructure program
Ongoing
Incentive Prize Programs
$1M ALS Biomarker Prize (2011 Awarded)
$1M ALS Treatment Prize
ALS Mouse Colony
ALS Mouse Manual
ALS Prediction Prize (algorithm/”big data” challenge,
awarded November 13, 2012(!))
Infrastructure Programs
PRO-ACT Database
ALS Forum Portal
ALSGene Database
Alzforum Science Writer Collaboration
Bi-weekly E-Newsletter
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PRIZE4LIFE.ORG
11. Prize4Life: focus on current programmatic portfolio
• $1M ALS Treatment Prize; Re-launched June 2012
Pre clinical
• Supported by the ALSGene, The ALS forum and the ALS mouse colony.
science
• Allows P4L to understand, define, engage and incentivize the ALS preclinical community
and to bridge between the ALS research community and relevant industry
• PRO-ACT Database: Over 8,500+ records of patients from 20+ clinical trials from Teva,
PRO ACT Sanofi Aventis, Novartis, Regeneron and NEALS; to be launched early 2013
database
• ALS Prediction Prize; Launched July 2012 and won Nov. 2012. Attracted over 750 solvers;
Can reduce clinical trials variability by up to ~25%.
• Allows P4L to support finding biomarkers, progression algorithms, stratification for
personal medicine, stratification of drug responses and more
Promoting • Avichai Kremer awarded 2012 Prime Minister award for innovation and
research entrepreneurship in a non profit
funding • Avichai has been involved in fostering ALS research such as through ISF
• Prize4Life is developing advocacy efforts regarding an Israeli “Orphan Disease Act” and
efforts to promote foreign investment in Israeli orphan disease R&D.
• Allows P4L to support funding and remove barriers for R&D of orphan diseases
PRIZE4LIFE.ORG
12. Prize4Life is constantly monitoring global ALS research so it
can develop the best programs to accelerate research
Drug and Biotech
companies
currently
investing in ALS
R&D
PRIZE4LIFE.ORG
13. What is an incentive prize?
What is an incentive prize Benefits of an incentive prize
• An effective form of crowd- • Democratic funding model which does not
sourcing/open innovation pre-select a winner/idea based on any
• Crowd-funding particular criteria (anyone can compete)
• Open source movement unlike other up-front funding models,
which are often predicated on prior results
• A results-based reward for a very or pedigree or networks
specific pre-determined need (not a
recognition prize like the Nobel Prizes) • Attracts new minds, new media, and new
money
• An example of “pull” funding vs. “push”
(upfront) funding (e.g. grant or contract) • Encourages outside-of-the-box thinking
• A mechanism to create excitement, • Complimentary to existing funding models
momentum, competition, and attention
• Results focused (you get what you want
• Prize purses can range from 0 to or you don’t pay)
millions of dollars
• Efficient from a funder/donor perspective
PRIZE4LIFE.ORG
15. The incentive prize model has grown exponentially over
the last fifteen years
Aggregate prize purse, prizes over $100,000 Large prize purses by sector
18% CAGR
18% CAGR
Source: Set of 219 prizes worth >$100,000 from “And the Winner Is …”, McKinsey, 2009
PRIZE4LIFE.ORG
16. History of the ALS biomarker prize challenge
Prize4Life launched the $1,000,000 ALS Biomarker Prize in
November 2006
Challenge was for an ALS Biomarker capable of reducing the cost of
ALS clinical trials by 50% or greater
Five $15,000 “idea prizes” awarded in May 2007 to researchers who
submitted theoretical solutions to finding a biomarker including:
o Plant biologist
o Chemist
o Dermatologist
o Small biotech
o Anonymous solver
54 teams from 18 different countries around the world actively
competed
27 of these teams initiated interdisciplinary collaborations
65% of teams competing for the prize came from a discipline other
than ALS (new minds!)
60% of teams competing for the prize came from academia and
40% from other domains (industry, gov’t, individuals)
PRIZE4LIFE.ORG
17. History of the ALS biomarker prize challenge – cont’d
ALS Biomarker Prize closed in November 2008
12 submissions received from 7 countries
In 2009 Prize4Life awarded $100,000 in Progress Prizes to two teams
for a:
o Novel skin-based biomarker
o Novel electrophysiological based biomarker
Relaunched the $1,000,000 Prize4Life ALS Biomarker Prize in May
2009
Over 1000 potential teams viewed the prize criteria
Received 4 submissions within the first year
Submissions vetted by Prize4Life’s SAB, expert biostatisticians, and
several additional outside experts
One submission was deemed to have met all 5 basic requirements and
5/7 desirable features
ALS Biomarker identified and $1M Prize Challenge officially awarded in
February, 2011
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PRIZE4LIFE.ORG
18. Pooled Resource Open-Access ALS Clinical Trials
(PRO-ACT) Project: Prediction Prize >> Won yesterday!!
ALS Prediction Prize Overview
The ALS Prediction Prize was designed to capitalize on the creation of the PRO-ACT
Database and attract widespread attention to the database (and ALS) from various
quantitative communities (statisticians, computer scientists, bioinformatics
specialists, computational neuroscientists, etc.). The 50K prizes were given for the
best prediction algorithm(s) enabling prediction of the degree of change in a
patient’s disease status over the following year (with an ultimate goal of improving
ALS clinical trials).
Prize Details:
The algorithm needs to predict a patient’s individual progression, using data only
from the first three months of clinical data collection
The prize was launched on July 15th in collaboration with IBM’s DREAM Project
(Dialogue for Reverse Engineering Assessments and Methods) and using the
InnoCentive platform
Three winners announced Nov. 13 out of ~1040 solvers registered for the
competition and 25 unique solvers who have submitted an algorithm for testing
and ranking on a leaderboard
Active solvers currently competing from AMIA, IBM, Microsoft, Google, MIT,
Stanford, Princeton, and many other leading institutions around the world
18 CONFIDENTIAL P R I ZI E 4 L ILFI E . O O G
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19. Key lessons learned
There are multiple kinds of crowdsourcing; prizes are just one
example
Crowdsourcing can be used successfully to address complex
biological questions/problems but it isn’t easy
It is ok to increment a challenge/divide a problem into intermediate
steps and milestones
Defining and articulating your goal/question/challenge carefully is
key
Lower barriers to entry whenever possible (to maximize the benefits
of using the incentive prize model you want a large diverse pool of
solvers)
Marketing
IP policy
Access to resources
Maintain momentum (especially for large/multi-year challenges)
Big and small incentives can both work (depends on the complexity
and resource requirements of the desired solution)
The “community” formed by crowdsourcing competitions is typically
ephemeral but ties to the challenge/problem, as well as to the entity
posting the challenge, can be lasting
PRIZE4LIFE.ORG