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Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten
Beckwith-Wiedemann Syndrome
Coffin Lowry Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Epidermolysis Bullosa
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten
Beckwith-Wiedemann Syndrome
Coffin Lowry Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Epidermolysis Bullosa
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Hemihypertrophy
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdle's
Meckel-Gruber Syndrome
Mobius Syndrome
Nail Patella Syndrome
Noonan Syndrome
Opitz Syndrome
Pallister-Hall Syndrome
Pallister Killian Mosaic Syndrome
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdle's
Meckel-Gruber Syndrome
Mobius Syndrome
Nail Patella Syndrome
Noonan Syndrome
Opitz Syndrome
Pallister-Hall Syndrome
Pallister Killian Mosaic Syndrome
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Sirenomelia
Smith-Magenis Syndrome
Smith Lemli Opitz Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Trichothiodystrophy
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Sirenomelia
Smith-Magenis Syndrome
Smith Lemli Opitz Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Trichothiodystrophy
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome
Acoustic Neuroma@
Adie Syndrome@
Adrenal Hyperplasia@
Adrenoleukodystrophy@
Aicardi Syndrome@
Albinism@
Alopecia Areata@
Alstrom Syndrome@
Angelman Syndrome@
Apert Syndrome@
Arthrogryposis@
Ataxia@
Autism@
Bardet-Biedl Syndrome@
Barth Syndrome@
Canavan@
Celiac@
Cerebrocostomandibular Syndrome@
Charcot-Marie-Tooth Disease@
Cleidocranial Dysplasia@
Cockayne Syndrome@
Congenital Pain Insensitivity@
Cornelia De Lange Syndrome@
Cri du Chat Syndrome@
Cystinosis@
Dwarfism@
Adie Syndrome@
Adrenal Hyperplasia@
Adrenoleukodystrophy@
Aicardi Syndrome@
Albinism@
Alopecia Areata@
Alstrom Syndrome@
Angelman Syndrome@
Apert Syndrome@
Arthrogryposis@
Ataxia@
Autism@
Bardet-Biedl Syndrome@
Barth Syndrome@
Canavan@
Celiac@
Cerebrocostomandibular Syndrome@
Charcot-Marie-Tooth Disease@
Cleidocranial Dysplasia@
Cockayne Syndrome@
Congenital Pain Insensitivity@
Cornelia De Lange Syndrome@
Cri du Chat Syndrome@
Cystinosis@
Dwarfism@
Ehlers-Danlos Syndrome@
Factor V Leiden@
Familial Dysautonomia@
Familial Erythromelalgia@
Fanconi Anemia@
Friedreich Ataxia@
Galactosemia@
Gaucher's@
Glycogen Storage Disease Type II@
Hallervorden-Spatz Syndrome@
Hemophilia@
Homocystinuria@
Huntington's@
Hydrocephalus@
Jacobsen Syndrome@
Klippel-Feil Syndrome@
Langer-Giedion Syndrome@
Leber's Congenital Amaurosis@
Leigh's@
Leukodystrophy@
Lissencephaly@
Lymphedema@
Marfan Syndrome@
Menkes' Syndrome@
Multiple Hereditary Exostoses@
Muscular Dystrophies@
Factor V Leiden@
Familial Dysautonomia@
Familial Erythromelalgia@
Fanconi Anemia@
Friedreich Ataxia@
Galactosemia@
Gaucher's@
Glycogen Storage Disease Type II@
Hallervorden-Spatz Syndrome@
Hemophilia@
Homocystinuria@
Huntington's@
Hydrocephalus@
Jacobsen Syndrome@
Klippel-Feil Syndrome@
Langer-Giedion Syndrome@
Leber's Congenital Amaurosis@
Leigh's@
Leukodystrophy@
Lissencephaly@
Lymphedema@
Marfan Syndrome@
Menkes' Syndrome@
Multiple Hereditary Exostoses@
Muscular Dystrophies@
Myotonic Dystrophy@
Narcolepsy@
Neurofibromatosis@
Niemann-Pick@
Osteogenesis Imperfecta@
Phenylketonuria@
Polycystic Kidney@
Porphyrias@
Progeria@
Refsum's@
Retinoblastoma@
Rett's Syndrome@
Rubinstein-Taybi Syndrome@
Sickle Cell@
Spinal Muscular Atrophy@
Stickler's Syndrome@
Tay-Sachs@
Thalassemia@
Tourette Syndrome@
Treacher Collins Syndrome@
Tuberous Sclerosis@
Tyrosinemia@
VATER Syndrome@
WAGR Syndrome@
Wilson's Disease@
Narcolepsy@
Neurofibromatosis@
Niemann-Pick@
Osteogenesis Imperfecta@
Phenylketonuria@
Polycystic Kidney@
Porphyrias@
Progeria@
Refsum's@
Retinoblastoma@
Rett's Syndrome@
Rubinstein-Taybi Syndrome@
Sickle Cell@
Spinal Muscular Atrophy@
Stickler's Syndrome@
Tay-Sachs@
Thalassemia@
Tourette Syndrome@
Treacher Collins Syndrome@
Tuberous Sclerosis@
Tyrosinemia@
VATER Syndrome@
WAGR Syndrome@
Wilson's Disease@
Today's News:
National Institutes of Health (NIH) News Releases
NIH Launches Unique Effort to Advance Study of Urologic Chronic Pelvic Pain Disorders
Fri, 05 Sep 2008 12:25:00 -0400
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health (NIH), announces awards to eight academic research centers to conduct collaborative studies of urologic chronic pelvic pain disorders by looking for clues outside the bladder and prostate. The total research investment for the five-year project is estimated to be up to $37.5 million.
NIDA Announces Recipients of New Avant-Garde Award for Innovative HIV/AIDS Research
Fri, 05 Sep 2008 09:35:00 -0400
The largest genetic analysis of its kind to date for bipolar disorder has implicated machinery involved in the balance of sodium and calcium in brain cells. Researchers supported in part by the National Institute of Mental Health, part of the National Institutes of Health, found an association between the disorder and variation in two genes that make components of channels that manage the flow of the elements into and out of cells, including neurons.
Study Reveals Link Between Apobec3 Gene and Neutralizing Antibody Response to Retrovirus
Thu, 04 Sep 2008 14:05:00 -0400
Scientists have uncovered new evidence that strengthens the link between a host-cell gene called Apobec3 and the production of neutralizing antibodies to retroviruses. Published in the Sept. 5 issue of "Science," the finding adds a new dimension to the set of possible explanations for why most people who are infected with HIV do not make neutralizing antibodies that effectively fight the virus.
CNN.com - Health
When sex becomes an addiction
Fri, 05 Sep 2008 10:31:24 -0400
"Californication" star David Duchovny made headlines for voluntarily entering rehab last week. But it wasn't for drugs or alcohol. It was for another dependency, one that affects millions of Americans but is seldom discussed: sex addiction.
FDA posts list of drugs under investigation
Fri, 05 Sep 2008 17:20:57 -0400
Read full story for latest details.
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NIH Launches Unique Effort to Advance Study of Urologic Chronic Pelvic Pain Disorders
Fri, 05 Sep 2008 12:25:00 -0400
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health (NIH), announces awards to eight academic research centers to conduct collaborative studies of urologic chronic pelvic pain disorders by looking for clues outside the bladder and prostate. The total research investment for the five-year project is estimated to be up to $37.5 million.
NIDA Announces Recipients of New Avant-Garde Award for Innovative HIV/AIDS Research
Fri, 05 Sep 2008 09:35:00 -0400
The largest genetic analysis of its kind to date for bipolar disorder has implicated machinery involved in the balance of sodium and calcium in brain cells. Researchers supported in part by the National Institute of Mental Health, part of the National Institutes of Health, found an association between the disorder and variation in two genes that make components of channels that manage the flow of the elements into and out of cells, including neurons.
Study Reveals Link Between Apobec3 Gene and Neutralizing Antibody Response to Retrovirus
Thu, 04 Sep 2008 14:05:00 -0400
Scientists have uncovered new evidence that strengthens the link between a host-cell gene called Apobec3 and the production of neutralizing antibodies to retroviruses. Published in the Sept. 5 issue of "Science," the finding adds a new dimension to the set of possible explanations for why most people who are infected with HIV do not make neutralizing antibodies that effectively fight the virus.
CNN.com - Health
When sex becomes an addiction
Fri, 05 Sep 2008 10:31:24 -0400
"Californication" star David Duchovny made headlines for voluntarily entering rehab last week. But it wasn't for drugs or alcohol. It was for another dependency, one that affects millions of Americans but is seldom discussed: sex addiction.
FDA posts list of drugs under investigation
Fri, 05 Sep 2008 17:20:57 -0400
Read full story for latest details.
Sites:
Gene Clinics: Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.A3243G: About 1% of Diabetes and Deafness, is 'caused' by a gene defect on the Mitochondrial DNA. This website provides a Support Group, a Forum and Information.
Blepharophimosis Ptosis Epicanthus Inversus Syndrome: BPES / BPEI Self-help group. Worldwide help and support for people who have Blepharophimosis Epicanthus Inversus Syndrome.
Dr. Greene's HouseCalls: A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.
Genetic and Rare Conditions: Information on genetic conditions and birth defects for professionals, educators, and individuals. Links to lay advocacy and support groups, clinics with genetic counselors and geneticists, sites for children and young adults. Maintained by Medical Genetics, University of Kansas Medical Center
Genetic Disorders: The Links to Diet: Explores role of diet and nutrition in birth defects and conditions often attributed to just bad genes.
IMMD Institute of Medical Molecular Diagnostics Ltd.: The IMMD is a leading Genetic Testing Laboratory located in Germany. Founded in 1994, IMMD currently provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
New Scientist: Heroin Addiction Gene Identified and Blocked: The study in heroin-addicted rats led to a treatment that successfully eliminated cravings for the drug - human treatments may follow
Primary Ciliary Dyskinesia: This website is from the PCD Interest Group (PCD Belangengroep). On this site you can find information on Primary Ciliary Dyskinesia in Dutch and English.
The Center For Jewish Genetics Disorders: A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
The UDGD Spot: Information and support for families of infants or children with undiagnosed genetic disordes or very rare synromes.
Washington University in St Louis: Fireworks Splice HTML
XLH Network: XLH Network is a patient support group for: X-Linked Hypophosphatemia (XLH), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
Your Genes, Your Health: Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome, Hemophilia, cystic fibrosis, Duchenne muscular dystrophy Becker muscular dystrophy, phenylketonuria, PKU, huntington disease, neurofibromatosis, NF, sickle cell, ...
This directory is based on the Open Directory and may have been modified