Institut National De La Sante Et De La Recherche Medicale

Other

Adelaide Medical Centre for Women and Children

Jean-Louis Mandel

Patrick Aubourg

Claude Sarde

Jean Mosser

John Charles Mulley

Melanie April Pritchard

Robert I Richards

Elizabeth Baker

Grant R Sutherland

David Schlessinger

Ramaiah Nagaraja

Eric J Kremer

Sui Yu

Michael Lynch

Erica E Davis

Philip L Beales

Corinne Stoetzel

Nicholas Katsanis

Richard Alan Lewis

The present invention relates to the identification of a gene, designated BBS1O, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. Methods of use for the gene, for example in diagnosis and therapy of BBS, also are described.

BBS10 related diagnostic methods for Bardet-Biedl syndrome

The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders. Polyclonal and monoclonal antibodies to an amino acid sequence encoded by SEQ ID NO:1, a DNA sequence from the Fragile X site, are also disclosed.

Monoclonal and polyclonal antibodies relating to fragile X syndrome

The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders.

DNA sequences related to fragile X syndrome

The present invention relates to adrenoleukodystrophy proteins and uses thereof. More particularly, the invention relates to human adrenoleukodystrophy proteins. Mutations of the adrenoleukodystrophy protein cause adrenoleukodystrophy or adrenomyelopathy.

X-linked adrenoleukodystrophy gene and corresponding protein

A method for the treatment of adrenoleukodystrophy or adrenomyeloneuropathy, in which there is administered to a human patient in need of the same an effective amount of hematopoietic cells modified ex vivo by infection with a retroviral vector containing a nucleic acid fragment comprising a sequence as represented on FIG. 2 (SEQ. ID No: 1) or FIG. 6 (SEQ. ID. No: 4-17) or FIG. 7 (SEQ. ID No: 18-23). Also, human hematopoietic cells can be treated ex vivo to correct the content of very long chain fatty acids in them, by providing human hematopoietic cells of a patient affected by adrenoleukodystrophy or adrenomyeloneuropathy, and infecting them ex vivo with a retroviral vector containing, operably linked to a promoter, a nucleic acid fragment as above. The expression of the nucleic acid in the hematopoietic cells corrects the content of very long chain fatty acids in the hematopoietic cells.

The cDNA and genomic DNA sequences encoding the human adrenoleukodystrophy protein are provided. Mutations of the adrenoleukodystrophy protein cause adrenoleukodystrophy or adrenomyelopathy.

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Schiltigheim, France

Jean-Louis Mandel