The Epigenetics and Chromatin Clinic was the first of its kind in the U.S. Our experts have been caring for patients with epigenetic conditions since 2012. Together, our providers have over 50 years of experience in epigenetics, having trained in some of the world’s best-known epigenetics research laboratories, and now they direct their own research laboratories and the Epigenetics and Chromatin Clinic.
Our Clinical Mission
To diagnose, provide optimal care for, and develop treatment plans for patients with Mendelian disorders of the epigenetic machinery or imprinting disorders.
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.
To educate health care providers and patients about epigenetics and disorders of the epigenetic machinery.
Our Clinical Expertise
Who should be evaluated in the Epigenetics and Chromatin Clinic?
Individuals known to have a Mendelian disorder of the epigenetic machinery (MDEM) or an imprinting disorder
Individuals suspected of having an MDEM or imprinting disorder
Individuals with intellectual disability or global developmental delay and growth differences
Services We Provide
- Full clinical genetics evaluations
- Genetic counseling
- Comprehensive or targeted genetic testing
- Brief developmental assessments
- Referrals for more extensive developmental and cognitive assessments
- Recommendations on medical and behavioral interventions
- Recommendations for schooling, including individualized education program (IEP) recommendations
- Options for clinical trials that test the latest experimental therapies for epigenetics syndromes
- Research opportunities
Conditions We Treat
| Gene | Condition |
|---|---|
| KMT2D | Kabuki syndrome 1 |
| KDM6A | Kabuki syndrome 2 |
| KMT2A | Wiedemann-Steiner syndrome |
| TET3 | Beck-Fahrner syndrome |
| NSD1 | Sotos syndrome |
| EZH2 | Weaver syndrome |
| EED | Cohen-Gibson syndrome |
| DNMT3A | Tatton-Brown-Rahman syndrome; Heyn-Sproul-Jackson syndrome |
| SETD2 | Luscan-Lumish syndrome |
| EHMT1 | Kleefstra syndrome 1 |
| KMT2C | Kleefstra syndrome 2 |
| CREBBP | Rubinstein-Taybi syndrome 1 |
| EP300 | Rubinstein-Taybi syndrome 2 |
| KAT6A | Arboleda-Tham syndrome |
| KAT6B | Say Barber Biessecker Young Simpson syndrome (SBBYSS); Genitopatellar syndrome |
| CHD1 | Pilarowski-Bjornsson syndrome |
| CHD2 | Developmental and epileptic encephalopathy 94 |
| CHD3 | Snijders Blok-Campeau syndrome |
| CHD4 | Sifrim-Hitz-Weiss syndrome |
| CHD5 | Parenti-Mignot neurodevelopmental syndrome |
| CHD7 | CHARGE/hypogonadotropic hypogonadism |
| CHD8 | Intellectual developmental disorder with autism and macrocephaly |
| MBD5 | Intellectual developmental disorder, autosomal dominant 1 |
| MECP2 | Rett syndrome and related disorders |
| PHF6 | Borjeson-Forssman-Lehmann syndrome |
| SMARCA4 | Coffin-Siris syndrome 4 |
| SMARCA2 | Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome |
| DPF2 | Coffin Siris syndrome 7 |
| ATRX | Alpha-thalassemia/mental retardation syndrome; Intellectual disability-hypotonic facies syndrome, X-linked |
| SRCAP | Floating Harbor syndrome; developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities |
| SETD5 | Intellectual developmental disorder, autosomal dominant 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 | Smith Magenis syndrome |
| 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 | Cornelia De Lange syndrome, type 5 |
| ASH1L | Intellectual developmental disorder, autosomal dominant 52 |
| ASXL1 | Bohring-Opitz syndrome |
| ASXL2 | Shashi-Pena syndrome |
| ASXL3 | Bainbridge-Ropers syndrome |
| BRWD3 | Intellectual developmental disorder, X-linked 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 syndrome |
| KMT5B | Intellectual developmental disorder, autosomal dominant 51 |
| KDM3B | Diets-Jongmans syndrome |
| KDM4B | Intellectual developmental disorder, autosomal dominant 65 |
| KAT5 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities |
| KAT8 | Li-Ghorgani-Weisz-Hubshman syndrome |
| PHIP | Chung-Jansen syndrome |
| 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 and behavioral abnormalities |
| UBR7 | Li-Campeau syndrome |
| TAF1 | Intellectual developmental disorder, X-linked syndromic 33 |
| ZMYND11 | Intellectual developmental disorder, autosomal dominant 30 |
| ALG13 | Developmental and epileptic encephalopathy 36 |
| ORC1 | Meier-Gorlin syndrome 1 |
| MSL3 | Basilicata-Akhtar syndrome |
| LBR | Pelger Huet anomaly (PHA) PHA with muskuloskeletal findings Greenberg skeletal dysplasia |
Additional Mendelian Disorders of the Epigenetic Machinery (MDEMs)
| Gene SMN1 | Condition Spinal muscular atrophy 1-4 | Recommendation *Neuromuscular evaluation preferred |
|---|---|---|
| MORC2 | Charcot-Marie-Tooth disease 2Z | *Primary neurology evaluation preferred |
| PRDM12 | Hereditary sensory and autonomic neuropathy (HSAN) 8 | *Primary neurology evaluation preferred |
| PRDM16 | Dilated cardiomyopathy 1LL; left ventricular non-compaction 8 | *Cardiology evaluation preferred |
| PRDM6 | Patent ductus arteriosus 3 | *Cardiology evaluation preferred |
| PRDM5 | Brittle cornea syndrome 2 | *Ophthalmology evaluation preferred |
| TDRD7 | Cataract 36 | *Ophthalmology evaluation preferred |
| MSH6 | Hereditary nonpolyposis colorectal cancer 5 mismatch repair cancer syndrome | *Oncology evaluation preferred |
| CBX2 | Sex reversal | *Endocrinology or Disorders/Differences of Sexual Development Clinic evaluation preferred |
| HR | Alopecia universalis; Atrichia with papular lesions; hypotrichosis type 4 | *Dermatology evaluation preferred |
| TET2 | Immunodeficiency 75; myelodysplastic syndrome, somatic | *Immunology or hematology/oncology evaluation preferred |
| AIRE | Autoimmune polyendocrinopathy syndrome 1 | *Immunology evaluation preferred |
| RAG2 | Omenn syndrome and severe combined immunodeficiency (SCID) | *Immunology evaluation preferred |
| SP110 | Hepatic venoocclusive disease and immune deficiency | *Immunology evaluation preferred |
Note: The above is a complete list of the MDEMs. We care for individuals with many of the disorders shown in black. However, for the disorders that are grayed out, our clinic may not be the most appropriate place to obtain medical care; for those, more appropriate specialty clinics are listed.
Schedule An Appointment
To schedule an appointment, please call 410-955-3071 (new patients) or 443-287-9494 (returning patients) and request an appointment in the Epigenetics and Chromatin Clinic with Dr. Fahrner. An appointment with Dr. Fahrner will allow you to be evaluated by Dr. Fahrner, Dr. Harris and Ms. Britton.