Dr. Emil Kakkis is an American geneticist who works to fight against rare diseases and disorders. In 2009, Emil Kakkis created the Kakkis EveryLife Foundation in order to accelerate biotech innovation for rare diseases. This foundation would go on to initiate the CureTheProcess Campaign which is dedicated to improving the regulatory and clinical development process for rare diseases. Since its inception, over 175 patient organizations and physician society partners have endorsed the campaign. The foundation also supports projects with similar ideals, including RareArtist.org, EveryLife Art Contest, Global Genes Project, National MPS Society, Rare Disease Legislative Advocates and the SIMD’s North American Metabolic Academy (NAMA). As for Kakkis himself, he has worked with the FDA and Congress to help his goals, and this work led to the Brownback Brown Amendment to the 2010 FDA appropriation bill. The amendment required the FDA to review its rare disease regulatory policies and look for ways to improve.
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Emil Kakkis
Source: Emil Kakkis. (2012, August 21). In Wikipedia, The Free Encyclopedia. Retrieved October 15, 2012, from http://bit.ly/lz6mh7
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Dr. Wexler has played a pivotal role in recent progress toward a cure for Huntington's disease. Learning that her family was affected by the disease, she did not bemoan her situation, but rose to the challenge and used her adversity to set her life goal to conquering this late-onset, invariably fatal genetic disorder. Through her work with the Hereditary Disease Foundation, she has mobilized the American public to the importance of genetic diseases.
Working in Venezuela, Dr. Wexler and her colleagues constructed an enormous pedigree of over 13,000 individuals, collecting blood samples from more than 3000 people with Huntington's disease in their families. These samples led to the discovery of the Huntington's disease gene at the tip of human chromosome 4 and the recent identification of the gene itself.
Localization of the gene marked the first time that recombinant DNA markers were used successfully to identify a gene whose chromosomal assignment was unknown. The availability of markers tightly linked to the gene led to the development of a presymptomatic test for Huntington's disease. Dr. Wexler directed one of the world's first research programs on genetic counseling and delivery of this test.
Not only has she brought her formidable scientific talents to bear, but her personal charisma has marshaled an army of scientists, citizens and clinicians to work together to attack this genetic disease, and in so doing has provided an example to people working on analogous disorders in other fields.
Dr. Wexler serves as President of the Hereditary Disease Foundation, where she guides its unique workshop program designed to educate scientists and catalyze research on the key biological questions posed by Huntington's disease and other hereditary disorders. The Hereditary Disease Foundation, founded by Dr. Milton Wexler, has been a major vehicle for stimulating interest in Huntington's disease and allied disorders in the scientific community and bringing them to the attention of the public.
To Dr. Nancy Wexler, for her extraordinary research that led to the localization and later identification of the Huntington's disease gene and for mobilizing research, policy development and scientific advocacy in the worldwide effort to find a cure, this 1993 Albert Lasker Public Service Award is given.]]>2023-02-24T18:30:59-05:00
For her groundbreaking work in the scientific and public arenas towards finding a cure for Huntington's disease and for increasing awareness of all genetic disease.
Dr. Wexler has played a pivotal role in recent progress toward a cure for Huntington's disease. Learning that her family was affected by the disease, she did not bemoan her situation, but rose to the challenge and used her adversity to set her life goal to conquering this late-onset, invariably fatal genetic disorder. Through her work with the Hereditary Disease Foundation, she has mobilized the American public to the importance of genetic diseases.
Working in Venezuela, Dr. Wexler and her colleagues constructed an enormous pedigree of over 13,000 individuals, collecting blood samples from more than 3000 people with Huntington's disease in their families. These samples led to the discovery of the Huntington's disease gene at the tip of human chromosome 4 and the recent identification of the gene itself.
Localization of the gene marked the first time that recombinant DNA markers were used successfully to identify a gene whose chromosomal assignment was unknown. The availability of markers tightly linked to the gene led to the development of a presymptomatic test for Huntington's disease. Dr. Wexler directed one of the world's first research programs on genetic counseling and delivery of this test.
Not only has she brought her formidable scientific talents to bear, but her personal charisma has marshaled an army of scientists, citizens and clinicians to work together to attack this genetic disease, and in so doing has provided an example to people working on analogous disorders in other fields.
Dr. Wexler serves as President of the Hereditary Disease Foundation, where she guides its unique workshop program designed to educate scientists and catalyze research on the key biological questions posed by Huntington's disease and other hereditary disorders. The Hereditary Disease Foundation, founded by Dr. Milton Wexler, has been a major vehicle for stimulating interest in Huntington's disease and allied disorders in the scientific community and bringing them to the attention of the public.
To Dr. Nancy Wexler, for her extraordinary research that led to the localization and later identification of the Huntington's disease gene and for mobilizing research, policy development and scientific advocacy in the worldwide effort to find a cure, this 1993 Albert Lasker Public Service Award is given.
Source: The Lasker Foundation. (n.d.). Albert Lasker public service award. In The lasker foundation. Reterieved October 12, 2012, from http://bit.ly/RjAYp2