表观遗传学和染色质诊所
The 表观遗传学和染色质诊所 was the first of its kind in the U.S. Our experts have been caring for patients with epigenetic conditions since 2012. Together, 我们的供应商团队 有超过50年的表观遗传学经验吗, having trained in some of the world’s best-known epigenetics research laboratories, and now they direct their own research laboratories and the 表观遗传学和染色质诊所.
Learn more about:
我们的临床使命
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To diagnose, 提供最佳护理, and develop treatment plans for patients with Mendelian disorders of the epigenetic machinery or imprinting disorders.
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To learn from our patients some fundamental truths about epigenetics with the hope that this additional knowledge will lead to future therapeutic development for our patients.
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To educate health care providers and patients about epigenetics and disorders of the epigenetic machinery.
我们的临床专长
Who should be evaluated in the 表观遗传学和染色质诊所?
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Individuals known to have a Mendelian disorder of the epigenetic machinery (MDEM) or an imprinting disorder
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Individuals suspected of having an MDEM or imprinting disorder
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Individuals with intellectual disability or global developmental delay and growth differences
Services We Provide
- 完整的临床遗传学评估
- Genetic counseling
- 全面或有针对性的基因检测
- 简要发展评估
- Referrals for more extensive developmental and cognitive assessments
- 关于医疗和行为干预的建议
- Recommendations for schooling, including individualized education program (IEP) recommendations
- Options for clinical trials that test the latest experimental therapies for epigenetics syndromes
- 研究的机会
我们治疗的疾病
| Gene | Condition |
|---|---|
| KMT2D | Kabuki syndrome 1 |
| KDM6A | Kabuki syndrome 2 |
| KMT2A | Wiedemann-Steiner综合症 |
| TET3 | Beck-Fahrner综合症 |
| NSD1 | Sotos syndrome |
| EZH2 | Weaver syndrome |
| EED | Cohen-Gibson综合症 |
| DNMT3A | Tatton-Brown-Rahman syndrome; Heyn-Sproul-Jackson syndrome |
| SETD2 | Luscan-Lumish综合症 |
| EHMT1 | Kleefstra综合征 |
| KMT2C | 克利夫斯特拉综合征 |
| CREBBP | 鲁宾斯坦-泰比综合征 |
| EP300 | 鲁宾斯坦-泰比综合征 |
| KAT6A | Arboleda-Tham综合症 |
| KAT6B | Say Barber Biessecker Young Simpson syndrome (SBBYSS); Genitopatellar syndrome |
| CHD1 | Pilarowski-Bjornsson综合症 |
| CHD2 | 发展性和癫痫性脑病 |
| CHD3 | Snijders block - campeau综合症 |
| CHD4 | Sifrim-Hitz-Weiss综合症 |
| CHD5 | 父母-米诺神经发育综合症 |
| CHD7 | 电荷/ hypogonadotropic性腺机能减退 |
| CHD8 | Intellectual developmental disorder with autism and macrocephaly |
| MBD5 | 智力发育障碍，常染色体显性1 |
| MECP2 | Rett综合征及相关疾病 |
| PHF6 | Borjeson-Forssman-Lehmann综合症 |
| SMARCA4 | 棺材-赛里斯综合症 |
| SMARCA2 | Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome |
| DPF2 | 柯芬·赛里斯综合症 |
| ATRX | Alpha-thalassemia/mental retardation syndrome; Intellectual disability-hypotonic facies syndrome, X-linked |
| SRCAP | Floating Harbor syndrome; developmental delay, hypotonia, 肌肉骨骼的缺陷, 行为异常 |
| SETD5 | 智力发育障碍，常染色体显性23 |
| SETD1A | Epilepsy, early onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| SETD1B | Intellectual developmental disorder with seizures and language delay |
| RAI1 | 史密斯·马格尼斯综合症 |
| KDM1A | Cleft palate, psychomotor retardation, and distinctive facial features (CPFR) |
| KDM6B | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| KDM5C | Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type |
| KDM5B | Intellectual developmental disorder, autosomal recessive 65 |
| PHF8 | Intellectual developmental disorder, X-linked syndromic, Siderius type |
| DNMT1 | Autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCADN); hereditary sensory neuropathy 1E (HSN1E) |
| DNMT3B | Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome 1 |
| NSD2 | Rauch-Steindl syndrome (formerly Wolf-Hirschhorn syndrome) |
| HDAC4 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies (formerly brachydactyly mental retardation syndrome) |
| HDAC6 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
| HDAC8 | 科妮莉亚·德·兰格综合症，5型 |
| ASH1L | Intellectual developmental disorder, autosomal dominant 52 |
| ASXL1 | Bohring-Opitz综合症 |
| ASXL2 | Shashi-Pena综合症 |
| ASXL3 | Bainbridge-Ropers综合症 |
| BRWD3 | 智力发育障碍，x连锁93 |
| BPTF | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| BRPF1 | Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) |
| KMT2B | Childhood-onset dystonia 28; Intellectual developmental disorder, autosomal dominant 68 |
| KMT2E | O 'Donnell-Luria-Rodan综合症 |
| KMT5B | 智力发育障碍，常染色体显性 |
| KDM3B | Diets-Jongmans综合症 |
| KDM4B | 智力发育障碍，常染色体显性65 |
| KAT5 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities |
| KAT8 | Li-Ghorgani-Weisz-Hubshman综合症 |
| PHIP | Chung-Jansen综合症 |
| RERE | Neurodevelopmental disorder with or without anomalies of the brain, eye or heart |
| PHF21A | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| TCF20 | Developmental delay with variable intellectual impairment 行为异常 |
| UBR7 | Li-Campeau综合症 |
| TAF1 | 智力发育障碍，x连锁综合症 |
| ZMYND11 | 智力发育障碍，常染色体显性 |
| ALG13 | 发展性和癫痫性脑病 |
| ORC1 | 迈尔-戈林综合征 |
| MSL3 | Basilicata-Akhtar综合症 |
| LBR | Pelger Huet anomaly (PHA) PHA with muskuloskeletal findings Greenberg skeletal dysplasia |
Additional Mendelian Disorders of the Epigenetic Machinery (MDEMs)
| Gene SMN1 | 脊髓性肌萎缩1-4 | *首选神经肌肉评估 |
|---|---|---|
| MORC2 | 沙克-玛丽-牙病2Z | *首选初级神经学评估 |
| PRDM12 | 遗传性感觉和自主神经病变(HSAN | *首选初级神经学评估 |
| PRDM16 | Dilated cardiomyopathy 1LL; left ventricular non-compaction 8 | *心脏病学评估优先 |
| PRDM6 | 动脉导管未闭 | *心脏病学评估优先 |
| PRDM5 | 角膜脆性综合征 | *眼科检查优先 |
| TDRD7 | Cataract 36 | *眼科检查优先 |
| MSH6 | Hereditary nonpolyposis colorectal cancer 5 mismatch repair cancer syndrome | *肿瘤学评估优先 |
| CBX2 | Sex reversal | *Endocrinology or Disorders/Differences of Sexual Development Clinic evaluation preferred |
| HR | Alopecia universalis; Atrichia with papular lesions; hypotrichosis type 4 | *皮肤科评估优先 |
| TET2 | Immunodeficiency 75; myelodysplastic syndrome, somatic | *Immunology or hematology/oncology evaluation preferred |
| AIRE | 自身免疫性多内分泌病综合征 | *免疫学评价优先 |
| RAG2 | 妇女综合征和严重联合免疫缺陷(SCID) | *免疫学评价优先 |
| SP110 | 肝静脉闭塞性疾病和免疫缺陷 | *免疫学评价优先 |
注:以上是mdem的完整列表. We care for individuals with many of the disorders shown in black. However, 为了那些灰色的紊乱, our clinic may not be the most appropriate place to obtain medical care; for those, 列出了更合适的专科诊所.
安排预约
如需预约，请致电 410-955-3071 (new patients) or 443-287-9494 (returning patients) and request an appointment in the 表观遗传学和染色质诊所 with Dr. Fahrner. 与医生的预约. 法纳会允许你接受. Fahrner, Dr. Harris and Ms. Britton.